BCPM
MCID: BNG091
MIFTS: 56

Benign Chronic Pemphigus (BCPM)

Categories: Cancer diseases, Genetic diseases, Immune diseases, Oral diseases, Rare diseases, Skin diseases

Aliases & Classifications for Benign Chronic Pemphigus

MalaCards integrated aliases for Benign Chronic Pemphigus:

Name: Benign Chronic Pemphigus 57 12 53 25
Hailey-Hailey Disease 57 12 75 53 25 59 74 13 55 15
Pemphigus, Benign Familial 57 12 25 44
Familial Benign Pemphigus 53 29 6 72
Familial Benign Chronic Pemphigus 25 59 37
Benign Familial Pemphigus 53 25 74
Bcpm 57 53
Hhd 57 74
Benign Chronic Familial Pemphigus of Hailey-Hailey 59
Hailey-Hailey Disease; Hhd 57
Pemphigus, Chronic, Benign 40

Characteristics:

Orphanet epidemiological data:

59
familial benign chronic pemphigus
Inheritance: Autosomal dominant; Age of onset: Adult; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset third-fourth decade
lesions provoked by friction, sun exposure, heat, and injury


HPO:

32
benign chronic pemphigus:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:0050429
OMIM 57 169600
KEGG 37 H00844
MeSH 44 D016506
NCIt 50 C82865
SNOMED-CT 68 79468000
ICD10 33 Q82.8
ICD10 via Orphanet 34 Q82.8
UMLS via Orphanet 73 C0085106
Orphanet 59 ORPHA2841
MedGen 42 C0085106
UMLS 72 C0085106

Summaries for Benign Chronic Pemphigus

Genetics Home Reference : 25 Benign chronic pemphigus, often called Hailey-Hailey disease, is a rare skin condition that usually appears in early adulthood. The disorder is characterized by red, raw, and blistered areas of skin that occur most often in skin folds, such as the groin, armpits, neck, and under the breasts. These inflamed areas can become crusty or scaly and may itch and burn. The skin problems tend to worsen with exposure to moisture (such as sweat), friction, and hot weather. The severity of benign chronic pemphigus varies from relatively mild episodes of skin irritation to widespread, persistent areas of raw and blistered skin that interfere with daily activities. Affected skin may become infected with bacteria or fungi, leading to pain and odor. Although the condition is described as "benign" (noncancerous), in rare cases the skin lesions may develop into a form of skin cancer called squamous cell carcinoma. Many affected individuals also have white lines running the length of their fingernails. These lines do not cause any problems, but they can be useful for diagnosing benign chronic pemphigus.

MalaCards based summary : Benign Chronic Pemphigus, also known as hailey-hailey disease, is related to skin disease and pemphigus. An important gene associated with Benign Chronic Pemphigus is ATP2C1 (ATPase Secretory Pathway Ca2+ Transporting 1), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Cardiac conduction. The drugs Acetylcholine and Cholinergic Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, breast and testes, and related phenotypes are hyperkeratosis and erythema

Disease Ontology : 12 A pemphigus that is characterized by recurring blistering most commonly occurring in the folds of the skin and has material basis in mutations in the ATP2C1 gene that result in loss of adhesion within the skin.

NIH Rare Diseases : 53 Hailey-Hailey disease is a genetic skin disease that causes blistering. Signs and symptoms include a painful rash and blistering in skin folds, such as the armpits, groin, neck, under the breasts, and between the buttocks. Secondary bacterial infections are not uncommon. Symptoms are often worse in summer months due to heat, sweating, and friction. Hailey-Hailey disease is caused by mutations in the ATP2C1 gene and is inherited in an autosomal dominant manner. Treatment focuses on reducing symptoms and preventing flares, and may include topical medication, laser, and other procedures.

OMIM : 57 Hailey-Hailey disease, also known as benign chronic pemphigus, is a rare autosomal dominant cutaneous disorder that usually becomes manifest in the third or fourth decade of life with erythema, vesicles, and erosions involving the body folds, particularly the groin and axillary regions. Other sites of the body, such as the neck, perianal, and submammary regions, may likewise be affected (summary by Poblete-Gutierrez et al., 2004). This disorder was first described by the dermatologist brothers Hailey and Hailey (1939). (169600)

KEGG : 37
Familial benign chronic pemphigus, also known as Hailey-Hailey disease, is a rare, autosomal dominant skin disorder. The clinical features are uncomfortable skin blisters and vegetative lesions caused by friction. Lesions generally begin between 20 and 40 years of age. In two third of all cases, positive family history is detected. Mutations in ATP2C1 that encodes a secretory pathway Ca2+/Mn2+-ATPase in the Golgi apparatus impair desmosomal keratinocyte adhesion in Hailey-Hailey disease.

UniProtKB/Swiss-Prot : 74 Hailey-Hailey disease: Autosomal dominant disorder characterized by persistent blisters and suprabasal cell separation (acantholysis) of the epidermis, due to impaired keratinocyte adhesion. Patients lacking all isoforms except isoform 2 have HHD.

Wikipedia : 75 Hailey-Hailey disease, or familial benign chronic pemphigus or familial benign pemphigus, was originally... more...

Related Diseases for Benign Chronic Pemphigus

Diseases in the Pemphigus family:

Benign Chronic Pemphigus

Diseases related to Benign Chronic Pemphigus via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 74, show less)
# Related Disease Score Top Affiliating Genes
1 skin disease 31.4 DSP ATP2C1 ATP2A2
2 pemphigus 31.1 JUP DSP ATP2C1
3 keratosis 30.3 DSP ATP2A2
4 grover's disease 30.1 JUP DSP
5 darier-white disease 27.8 JUP DSP CDH3 ATP2C2 ATP2C1 ATP2A2
6 herpes simplex 10.7
7 pemphigus vulgaris, familial 10.6
8 squamous cell carcinoma 10.6
9 contact dermatitis 10.6
10 pemphigus foliaceus 10.6
11 scabies 10.5
12 bullous pemphigoid 10.5
13 rare genetic skin disease 10.5
14 end stage renal failure 10.4
15 acrokeratosis verruciformis 10.3
16 autoimmune disease 10.3
17 major affective disorder 1 10.3
18 multiple sclerosis 10.3
19 erythema multiforme 10.3
20 exanthem 10.3
21 graves' disease 10.3
22 hidradenitis suppurativa 10.3
23 hidradenitis 10.3
24 basal cell carcinoma 10.3
25 epidermolysis bullosa 10.3
26 skin atrophy 10.3
27 facial dermatosis 10.3
28 neurilemmoma 10.3
29 mucoepidermoid carcinoma 10.3
30 malignant peripheral nerve sheath tumor 10.3
31 genital herpes 10.3
32 in situ carcinoma 10.3
33 seborrheic dermatitis 10.3
34 rosacea 10.3
35 hypereosinophilic syndrome 10.3
36 47,xyy 10.3
37 acute monoblastic leukemia 10.3
38 drug reaction with eosinophilia and systemic symptoms 10.3
39 stevens-johnson syndrome/toxic epidermal necrolysis 10.3
40 acute generalized exanthematous pustulosis 10.3
41 small cell cancer of the lung 10.2
42 cytokine deficiency 10.2
43 epidermolysis bullosa, lethal acantholytic 10.2 JUP DSP
44 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.1 JUP DSP
45 pustulosis of palm and sole 10.1
46 psoriasis 10.1
47 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.1 JUP DSP
48 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.1 JUP DSP
49 palmoplantar keratoderma and woolly hair 10.1 JUP DSP
50 naxos disease 10.1 JUP DSP
51 arrhythmogenic right ventricular dysplasia, familial, 1 10.1 JUP DSP
52 arrhythmogenic right ventricular dysplasia, familial, 9 10.1 JUP DSP
53 ectodermal dysplasia/skin fragility syndrome 10.0 JUP DSP
54 erythrokeratoderma ''en cocardes'' 10.0
55 arrhythmogenic right ventricular dysplasia, familial, 8 10.0 JUP DSP
56 cardiomyopathy, dilated, with woolly hair and keratoderma 10.0 JUP DSP
57 bullous skin disease 10.0 DSP ATP2C1 ATP2A2
58 cellulitis 10.0 DSP ATP2C1 ATP2A2
59 palmoplantar keratosis 10.0 JUP DSP
60 hair disease 9.9 DSP CDH3
61 anogenital venereal wart 9.9
62 allergic hypersensitivity disease 9.9
63 tinea corporis 9.9
64 candidiasis 9.9
65 syringoma 9.9
66 papilloma 9.9
67 dermatitis 9.9
68 dermatophytosis 9.9
69 eczema herpeticum 9.9
70 pulmonary embolism 9.9
71 leukoplakia 9.9
72 dowling-degos disease 1 9.9
73 intrinsic cardiomyopathy 9.8 JUP DSP
74 atrial standstill 1 9.6 JUP DSP

Graphical network of the top 20 diseases related to Benign Chronic Pemphigus:



Diseases related to Benign Chronic Pemphigus

Symptoms & Phenotypes for Benign Chronic Pemphigus

Human phenotypes related to Benign Chronic Pemphigus:

59 32 (showing 5, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperkeratosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000962
2 erythema 59 32 hallmark (90%) Very frequent (99-80%) HP:0010783
3 skin vesicle 59 32 hallmark (90%) Very frequent (99-80%) HP:0200037
4 skin erosion 59 32 hallmark (90%) Very frequent (99-80%) HP:0200041
5 acantholysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0100792

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin:
erythema
skin blisters and erosions (neck, perianal, submaxillary, groin, axilla, popliteal fossa)

Skin Nails Hair Skin Histology:
suprabasal acantholysis

Clinical features from OMIM:

169600

MGI Mouse Phenotypes related to Benign Chronic Pemphigus:

46 (showing 1, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.02 ATP2A2 ATP2C1 CDH3 DSP JUP

Drugs & Therapeutics for Benign Chronic Pemphigus

Drugs for Benign Chronic Pemphigus (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 10, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved, Investigational Phase 1 51-84-3 187
2 Cholinergic Agents Phase 1
3 Acetylcholine Release Inhibitors Phase 1
4 Neurotransmitter Agents Phase 1
5 Botulinum Toxins Phase 1
6
Fusidic Acid Approved, Investigational 6990-06-3 3000226
7
Lidocaine Approved, Vet_approved 137-58-6 3676
8 Pharmaceutical Solutions
9 Chlorhexidine gluconate
10 Anesthetics

Interventional clinical trials:

(showing 3, show less)
# Name Status NCT ID Phase Drugs
1 Evaluation of the Improvement of Quality of Life of Patients Suffering From Hailey Hailey or Darier Disease After Injections of Botulism Toxin Into Large Folds. Toxin Hailey Darier Completed NCT02782702 Phase 1 Botulism Toxin Treatment
2 Research Registry for Inherited Disorders of Keratinization Unknown status NCT00074685
3 Expression of hSPCA1 and Ultrastructural Analysis of the Skin Before and After Laser Therapy in Hailey-Hailey Disease Recruiting NCT03849989

Search NIH Clinical Center for Benign Chronic Pemphigus

Cochrane evidence based reviews: pemphigus, benign familial

Genetic Tests for Benign Chronic Pemphigus

Genetic tests related to Benign Chronic Pemphigus:

# Genetic test Affiliating Genes
1 Familial Benign Pemphigus 29 ATP2C1

Anatomical Context for Benign Chronic Pemphigus

MalaCards organs/tissues related to Benign Chronic Pemphigus:

41
Skin, Breast, Testes, Brain, Colon, Liver, Testis

Publications for Benign Chronic Pemphigus

Articles related to Benign Chronic Pemphigus:

(showing 578, show less)
# Title Authors PMID Year
1
Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease. 9 38 8 71
10615129 2000
2
Allelic loss underlies type 2 segmental Hailey-Hailey disease, providing molecular confirmation of a novel genetic concept. 38 8 71
15545997 2004
3
Relapsing linear acantholytic dermatosis. 38 8 71
3978039 1985
4
Analysis of ATP2C1 gene mutation in 10 unrelated Japanese families with Hailey-Hailey disease. 9 38 71
11874499 2002
5
Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca(2+) pump. 9 38 71
10767338 2000
6
Narrowing of the Hailey-Hailey disease gene region on chromosome 3q and identification of one kindred with a deletion in this region. 38 8
8595906 1995
7
Hailey-Hailey disease maps to a 5 cM interval on chromosome 3q21-q24. 38 8
7665912 1995
8
Localization of the gene whose mutations underlie Hailey-Hailey disease to chromosome 3q. 38 8
7981684 1994
9
Hailey-Hailey disease of the vulva. 38 8
8215508 1993
10
Familial benign chronic pemphigus (Hailey-Hailey disease). Treatment with carbon dioxide laser vaporization. 38 8
1575528 1992
11
Hailey-Hailey disease: the clinical features, response to treatment and prognosis. 38 8
1554604 1992
12
Hailey-Hailey disease: a widespread abnormality of cell adhesion. 38 8
2025553 1991
13
Contact allergies in patients with familial benign chronic pemphigus (Hailey-Hailey disease) 38 8
2528572 1989
14
Generalized familial benign chronic pemphigus. 38 8
7398981 1980
15
Generalized Hailey-Hailey disease. 38 8
708629 1978
16
Familial benign chronic pemphigus. Surgical treatment and pathogenesis. 38 8
4939904 1971
17
Familial benign chronic pemphigus. The role of trauma including contact sensitivity. 38 8
5093171 1971
18
Familial benign chronic pemphigus: the role of pyogenic bacteria. 38 8
14417924 1959
19
Interventional treatments for Hailey-Hailey disease. 38 6
27745906 2017
20
HLA-B 16 in Hailey-Hailey's disease. 8
2426907 1986
21
Pemphigus benignus familiaris (with special reference to the histopathological diagnosis). 8
6033006 1967
22
Vesicular Darier's disease (so-called benign familial pemphigus); a variant of Darier's disease. 8
15411213 1950
23
[Benign familial chronic pemphigus (Hailey-Hailey disease). Treatment with carbon dioxide laser]. 9 38
20390242 2010
24
Six novel ATP2C1 mutations identified in Chinese patients with Hailey-Hailey disease. 9 38
20226632 2010
25
Exacerbation of Darier disease by lithium carbonate. 9 38
20338123 2010
26
Genetic diagnosis of Hailey-Hailey disease in two Chinese families: novel mutations in the ATP2C1 gene. 9 38
20055875 2009
27
Familial benign chronic pemphigus (Hailey-Hailey disease). 9 38
19891923 2009
28
Acantholytic dermatosis of the crural folds with ATP2C1 mutation is a possible variant of Hailey-Hailey Disease. 9 38
19426624 2009
29
A novel mutation in the ATP2C1 gene is associated with Hailey-Hailey disease in a Chinese family. 9 38
19126050 2009
30
Hailey-Hailey disease: a novel mutation of the ATP2C1 gene in a Taiwanese family with divergent clinical presentation. 9 38
18266684 2008
31
Molecular and clinical characterization in Japanese and Korean patients with Hailey-Hailey disease: six new mutations in the ATP2C1 gene. 9 38
18372165 2008
32
Immunohistological study of involucrin expression in Darier's disease skin. 9 38
18312435 2008
33
Three novel ATP2C1 mutations in Chinese patients with Hailey-Hailey disease. 9 38
18205868 2008
34
A novel deletion mutation of the ATP2C1 gene in Chinese patients with Hailey-Hailey disease. 9 38
18211433 2008
35
[Mutation detection of ATP2C1 gene in Chinese patients with Hailey-Hailey disease]. 9 38
18247307 2008
36
Diagnosis of Hailey-Hailey disease facilitated by DNA testing: a novel mutation in ATP2C1. 9 38
18709316 2008
37
Loss of the Atp2c1 secretory pathway Ca(2+)-ATPase (SPCA1) in mice causes Golgi stress, apoptosis, and midgestational death in homozygous embryos and squamous cell tumors in adult heterozygotes. 9 38
17597066 2007
38
Involucrin expression is decreased in Hailey-Hailey keratinocytes owing to increased involucrin mRNA degradation. 9 38
17392835 2007
39
Two novel mutations of the ATP2C1 gene in Chinese patients with Hailey-Hailey disease. 9 38
17503064 2007
40
Calcium in the Golgi apparatus. 9 38
17140658 2007
41
[Identification of a novel mutation in the ATP2C1 gene in a Chinese pedigree with Hailey-Hailey disease]. 9 38
17536260 2007
42
Eight novel mutations of ATP2C1 identified in 17 Chinese families with Hailey-Hailey disease. 9 38
17911984 2007
43
Diseases involving the Golgi calcium pump. 9 38
18193645 2007
44
Darier disease and Hailey-Hailey disease. 9 38
18060195 2007
45
Mutations in the ATP2C1 gene in Chinese patients with Hailey-Hailey disease. 9 38
16901313 2006
46
ATP2C1 is specifically localized in the basal layer of normal epidermis and its depletion triggers keratinocyte differentiation. 9 38
16621454 2006
47
Two novel mutations of the ATP2C1 gene in Chinese families with Hailey-Hailey disease. 9 38
16540292 2006
48
Dissection of the functional differences between human secretory pathway Ca2+/Mn2+-ATPase (SPCA) 1 and 2 isoenzymes by steady-state and transient kinetic analyses. 9 38
16332677 2006
49
Activity of the hSPCA1 Golgi Ca2+ pump is essential for Ca2+-mediated Ca2+ response and cell viability in Darier disease. 9 38
16467572 2006
50
Novel mutation in ATP2C1 gene in a Japanese patient with Hailey-Hailey disease. 9 38
16484827 2006
51
Expression of SPCA1 (Hailey-Hailey disease gene product) in acantholytic dermatoses. 9 38
16199140 2005
52
ATP2C1 gene mutation analysis in Italian patients with Hailey-Hailey disease. 9 38
16297192 2005
53
Functional comparison between secretory pathway Ca2+/Mn2+-ATPase (SPCA) 1 and sarcoplasmic reticulum Ca2+-ATPase (SERCA) 1 isoforms by steady-state and transient kinetic analyses. 9 38
16192278 2005
54
Calcium and magnesium competitively influence the growth of a PMR1 deficient Saccharomyces cerevisiae strain. 9 38
16143464 2005
55
[The first genetically supported case of chronic benign pemphigus (Hailey-Hailey disease in Hungary]. 9 38
16255378 2005
56
Novel mutations in the ATP2C1 gene in two patients with Hailey-Hailey disease. 9 38
16045696 2005
57
Keratinocytes cultured from patients with Hailey-Hailey disease and Darier disease display distinct patterns of calcium regulation. 9 38
16029335 2005
58
Transcriptional regulation of ATP2C1 gene by Sp1 and YY1 and reduced function of its promoter in Hailey-Hailey disease keratinocytes. 9 38
15955096 2005
59
Effects of drugs and anticytokine antibodies on expression of ATP2A2 and ATP2C1 in cultured normal human keratinocytes. 9 38
15888147 2005
60
Hailey-Hailey disease as an orthodisease of PMR1 deficiency in Saccharomyces cerevisiae. 9 38
15811312 2005
61
Caenorhabditis elegans PMR1, a P-type calcium ATPase, is important for calcium/manganese homeostasis and oxidative stress response. 9 38
15670846 2005
62
Detection of ATP2C1 gene mutation in familial benign chronic pemphigus. 9 38
16463682 2005
63
The Ca2+/Mn2+ pumps in the Golgi apparatus. 9 38
15590060 2004
64
SPCA1 pumps and Hailey-Hailey disease. 9 38
15336968 2004
65
Hailey-Hailey disease: identification of novel mutations in ATP2C1 and effect of missense mutation A528P on protein expression levels. 9 38
15191544 2004
66
Calcium pumps and keratinocytes: lessons from Darier's disease and Hailey-Hailey disease. 9 38
15149492 2004
67
Human keratinocyte ATP2C1 localizes to the Golgi and controls Golgi Ca2+ stores. 9 38
14632183 2003
68
Four novel mutations in ATP2C1 found in Chinese patients with Hailey-Hailey disease. 9 38
14510977 2003
69
Similar Ca(2+)-signaling properties in keratinocytes and in COS-1 cells overexpressing the secretory-pathway Ca(2+)-ATPase SPCA1. 9 38
12810057 2003
70
Effect of Hailey-Hailey Disease mutations on the function of a new variant of human secretory pathway Ca2+/Mn2+-ATPase (hSPCA1). 9 38
12707275 2003
71
PMR1/SPCA Ca2+ pumps and the role of the Golgi apparatus as a Ca2+ store. 9 38
12739151 2003
72
Mutation analysis of ATP2C1 gene in Taiwanese patients with Hailey-Hailey disease. 9 38
11966689 2002
73
Hailey-Hailey disease: molecular and clinical characterization of novel mutations in the ATP2C1 gene. 9 38
11841554 2002
74
Functional expression in yeast of the human secretory pathway Ca(2+), Mn(2+)-ATPase defective in Hailey-Hailey disease. 9 38
11741891 2002
75
Mutations of ATP2C1 in Japanese patients with Hailey-Hailey disease: intrafamilial and interfamilial phenotype variations and lack of correlation with mutation patterns. 9 38
11886536 2001
76
Upregulation of P-cadherin expression in the lesional skin of pemphigus, Hailey-Hailey disease and Darier's disease. 9 38
11401672 2001
77
A case of generalized Hailey-Hailey disease with fatal liver injury. 9 38
11450592 2001
78
Ultrastructural localization of cell junctional components (desmoglein, plakoglobin, E-cadherin, and beta-catenin) in Hailey-Hailey disease, Darier's disease, and pemphigus vulgaris. 9 38
9521500 1998
79
Adhesion molecules and related proteins in Darier's disease and Hailey-Hailey disease. 9 38
1419753 1992
80
Low-dose naltrexone therapy in benign chronic pemphigus (Hailey-Hailey disease): A case series. 38
31002846 2019
81
Acantholytic dyskeratosis of the vulva presenting with clinical features of vulval lichen sclerosus- a possible rare collision entity. 38
31393620 2019
82
Review of 52 cases with Hailey-Hailey disease identified 25 novel mutations in Chinese Han population. 38
31435946 2019
83
Generalized Hailey-Hailey disease with flexural keratotic papules: An interesting presentation and remarkable response with minocycline. 38
31012213 2019
84
Acitretin as a successful treatment for Hailey-Hailey disease. 38
30280408 2019
85
The uses of naltrexone in dermatologic conditions. 38
30582992 2019
86
Variable response to low-dose naltrexone in patients with Darier disease: a case series. 38
30712317 2019
87
Use of low-dose naltrexone in the treatment of severe Hailey-Hailey disease: One case report. 38
30958613 2019
88
Hailey-Hailey-Like Pattern of Acantholysis on the Scalp Should Raise the Possibility of Incipient Pemphigus Vulgaris. 38
30640761 2019
89
Hailey-Hailey disease with lichenoid lesions around the anus. 38
30855357 2019
90
A novel splice-site mutation in the ATP2C1 gene of a Chinese family with Hailey-Hailey disease. 38
30654607 2019
91
Hailey-Hailey disease: a diagnostic challenge. 38
31039223 2019
92
Low Dose Naltrexone in Dermatology 38
30909326 2019
93
Altered levels of focal adhesion and extracellular matrix-receptor interacting proteins were identified in Hailey-Hailey disease by quantitative iTRAQ proteome analysis. 38
30506709 2019
94
Botulinum toxin type A for the first-line treatment of Hailey-Hailey disease. 38
29896862 2019
95
Utility of Naltrexone Treatment for Chronic Inflammatory Dermatologic Conditions: A Systematic Review. 38
30484835 2019
96
The Use of Naltrexone in Dermatology. Current Evidence and Future Directions. 38
30887922 2019
97
Hailey-Hailey disease successfully treated with vitamin D oral supplementation. 38
30291662 2019
98
Treatment of Hailey-Hailey disease with narrowband phototherapy and acitretin: A case report. 38
31105943 2019
99
Hailey-Hailey disease: the role of azathioprine an immunomodulator. 38
31223357 2019
100
Naltrexone Therapy for Hailey-Hailey Disease: Confirming My Addiction to Evidence-Based Medicine. 38
30888948 2019
101
Distinguishing histopathologic features of acantholytic dermatoses and the pattern of acantholytic hypergranulosis. 38
30203619 2019
102
Narrowband UV-B Phototherapy in the Treatment of Generalized Hailey-Hailey Disease. 38
29467079 2018
103
Treatment of Severe Hailey-Hailey Disease With Apremilast. 38
30304341 2018
104
Segmental Hailey-Hailey disease of the vulva. 38
30168169 2018
105
Afamelanotide in the Treatment of Dermatologic Disease 38
30517779 2018
106
Mild Hailey-Hailey disease cases with aberrant splicing variants of ATP2C1 successfully controlled with excimer light. 38
29705999 2018
107
Hailey-Hailey disease patient with a novel missense mutation in ATP2C1 successfully treated with minocycline hydrochloride. 38
29740863 2018
108
Looking for a Treatment for Hailey-Hailey Disease: The Importance of Being Consistent in Case Reports. 38
30322310 2018
109
Identification of a recurrent mutation in ATP2C1 demonstrates that papular acantholytic dyskeratosis and Hailey-Hailey disease are allelic disorders. 38
29944739 2018
110
Hailey-Hailey Disease With Coexistent Herpes Virus Infection: Insights Into the Diagnostic Conundrum of Herpetic/Pseudoherpetic Features in Cutaneous Acantholytic Disorders. 38
28475517 2018
111
New trends in botulinum toxin use in dermatology. 38
30479855 2018
112
Low-Dose Naltrexone (LDN)-Review of Therapeutic Utilization. 38
30248938 2018
113
Long-term improvement of recalcitrant Hailey-Hailey disease with electron beam radiation therapy: Case report and review. 38
29907515 2018
114
Safety of Topical Calcineurin Inhibitors for Hailey-Hailey Disease. 38
30422293 2018
115
Safety of Topical Calcineurin Inhibitors for Hailey-Hailey Disease-Reply. 38
30422296 2018
116
Treatment of Hailey-Hailey disease with botulinum toxin. 38
29044476 2018
117
Generalized familial benign chronic pemphigus (Hailey-Hailey disease) treated successfully with low-dose naltrexone. 38
30167446 2018
118
Mild case of Hailey-Hailey disease caused by a novel ATP2C1 mutation. 38
29383827 2018
119
Yeast-Based Screen to Identify Natural Compounds with a Potential Therapeutic Effect in Hailey-Hailey Disease. 38
29925776 2018
120
Store-independent coupling between the Secretory Pathway Ca2+ transport ATPase SPCA1 and Orai1 in Golgi stress and Hailey-Hailey disease. 38
29555205 2018
121
A Case of Hailey-Hailey Disease Managed With Oral Magnesium Citrate and High-Dose Vitamin D3. 38
29865954 2018
122
The non-neuronal and nonmuscular effects of botulinum toxin: an opportunity for a deadly molecule to treat disease in the skin and beyond. 38
29086923 2018
123
Low-dose naltrexone: a novel treatment for Hailey-Hailey disease. 38
28991360 2018
124
Variable Response to Naltrexone in Patients With Hailey-Hailey Disease. 38
29344611 2018
125
Dermoscopy of Hailey Hailey Disease. 38
29644210 2018
126
Skin diseases of the vulva: inflammatory, erosive-ulcerating and apocrine gland diseases, zinc and vitamin deficiency, vulvodynia and vestibulodynia. 38
28764581 2018
127
Hailey-Hailey Disease and Reduction Mammoplasty: Surgical Treatment of a Gene Mutation. 38
28916958 2018
128
Dermoscopic and reflectance confocal microscopic presentation of Hailey-Hailey disease: A case series. 38
28782140 2018
129
Psoriasiform Hailey-Hailey Disease Presenting as Erythematous Psoriasiform Plaques Throughout the Body: A Case Report. 38
29236657 2018
130
Non-Desmoglein Antibodies in Patients With Pemphigus Vulgaris. 38
29915578 2018
131
Hailey-Hailey disease due to ATP2C1 splice site mutation, successfully treated with minocycline hydrochloride. 38
28653466 2018
132
Identification of 2 Novel Mutations in ATP2C1 Gene in Hailey-Hailey Disease and a Literature Review of Variations in a Chinese Han Population. 38
29104283 2017
133
Is photodynamic therapy a relevant therapeutic option in refractory benign familial pemphigus (Hailey-Hailey disease)? A series of eight patients. 38
28301978 2017
134
Low-Dose Naltrexone Treatment of Familial Benign Pemphigus (Hailey-Hailey Disease). 38
28768314 2017
135
[Treatment of Hailey-Hailey disease with botulinic toxin: A retrospective study of 8 cases]. 38
28669425 2017
136
A Case of Hailey-Hailey Disease with a Novel Nonsense Mutation in the ATP2C1 Gene. 38
28966528 2017
137
The role of the ATP2C1 gene in Hailey-Hailey disease. 38
28551824 2017
138
Treatment of Hailey-Hailey Disease With Low-Dose Naltrexone. 38
28768313 2017
139
Pharmacokinetics and Pharmacodynamics of Afamelanotide and its Clinical Use in Treating Dermatologic Disorders. 38
28063031 2017
140
Bullous, pseudobullous, & pustular dermatoses. 38
28108048 2017
141
Dermatosis papular acantolítica de la vulva con buena respuesta a tacrólimus tópico. 38
28541878 2017
142
Mendelian Disorders of Cornification Caused by Defects in Intracellular Calcium Pumps: Mutation Update and Database for Variants in ATP2A2 and ATP2C1 Associated with Darier Disease and Hailey-Hailey Disease. 38
28035777 2017
143
[Clinicopathological features of acantholytic mammary Paget's disease: a report of 28 cases]. 38
28395432 2017
144
Structure/activity relationship of thapsigargin inhibition on the purified Golgi/secretory pathway Ca2+/Mn2+-transport ATPase (SPCA1a). 38
28264934 2017
145
The coexistence of Darier's disease and Hailey-Hailey disease symptoms. 38
28507500 2017
146
Exacerbation of Hailey-Hailey disease by topiramate. 38
27510943 2017
147
[Hailey-Hailey disease: Efficiency of combined doxycycline and vitamin PP]. 38
28011089 2017
148
Corrigendum: The loss of ATP2C1 impairs the DNA damage response and induces altered skin homeostasis: Consequences for epidermal biology in Hailey-Hailey disease. 38
28300154 2017
149
Oral magnesium chloride: A novel approach in the management of Hailey-Hailey disease. 38
28164896 2017
150
[Clinicopathological study of 56 cases of extramammary Paget's disease with or without acantholysis]. 38
28260304 2017
151
The Effect of Cryotherapy in Hailey-Hailey Disease. 38
28223763 2017
152
Dermoscopic presentation of Hailey-Hailey disease. 38
28087023 2017
153
Hailey-Hailey Disease Presenting as Lichenoid Plaques on the Thigh. 38
29139371 2017
154
An Unusual Location of Subungual Warty Dyskeratoma: A Case Report and Review of the Literature. 38
28326204 2017
155
A study of clinical, histopathological and direct immunofluorescence diagnosis in pemphigus group Utility of direct immunofluorescence. 38
28471236 2017
156
Non-cosmetic dermatological uses of botulinum neurotoxin. 38
27421250 2016
157
Reflectance confocal microscopy in the diagnosis of vesicobullous disorders: case series with pathologic and cytologic correlation and literature review. 38
27259839 2016
158
The efficacy of botulinum toxin type A in the treatment of Hailey-Hailey disease. 38
26970226 2016
159
Koebnerization of Hailey-Hailey disease into a cutaneous drug eruption of acute generalized exanthematous pustulosis associated with systemic symptoms. 38
27433827 2016
160
A Bullous Flare of a Hyperkeratotic Affair: A Case Report. 38
27407050 2016
161
Glutathione S-transferase ϴ-subunit as a phenotypic suppressor of pmr1Δ strain, the Kluyveromyces lactis model for Hailey-Hailey disease. 38
27523793 2016
162
Novel clinical and molecular findings in Chinese families with Hailey-Hailey disease: an update. 38
27663161 2016
163
Four novel ATP2C1 mutations in Chinese patients with Hailey-Hailey disease. 38
27095120 2016
164
Papular acantholytic dyskeratosis of the anogenital and genitocrural area: case series and review of the literature. 38
27161553 2016
165
Hailey-Hailey disease. 38
27657314 2016
166
The loss of ATP2C1 impairs the DNA damage response and induces altered skin homeostasis: Consequences for epidermal biology in Hailey-Hailey disease. 38
27528123 2016
167
A novel deletion mutation of the ATP2C1 gene in a family with Hailey-Hailey disease. 38
26242806 2016
168
Papular acantholytic dyskeratosis of the vulva associated with familial Hailey-Hailey disease. 38
27028372 2016
169
Good Response to Doxycycline in Hailey-Hailey Disease. 38
26810769 2016
170
ATP2C1 gene mutations in Hailey-Hailey disease and possible roles of SPCA1 isoforms in membrane trafficking. 38
27277681 2016
171
Three novel mutations of the ATP2C1 gene in Chinese families with Hailey-Hailey disease. 38
25845280 2016
172
Progressive osseous heteroplasia is not a Mendelian trait but a type 2 segmental manifestation of GNAS inactivation disorders: A hypothesis. 38
27058263 2016
173
Familial benign pemphigus atypical localization. 38
27617466 2016
174
Efficacy of magnesium chloride in the treatment of Hailey-Hailey disease: some further considerations. 38
26519325 2016
175
Familial benign chronic pemphigus (Hailey-Hailey disease) treated with electron beam radiation. 38
27222876 2016
176
The forgotten yeast model of Hailey-Hailey disease. 38
26517976 2016
177
Hailey-Hailey disease. 38
27057511 2016
178
Management of familial benign chronic pemphigus. 38
27695354 2016
179
Benign familial pemphigus (Hailey-Hailey disease). 38
26990332 2015
180
Refractory Hailey-Hailey Disease That Responded Well to Photodynamic Therapy. 38
26387451 2015
181
Recalcitrant Hailey-Hailey disease responds to oral tacrolimus and botulinum toxin type A. 38
26761940 2015
182
The ATP2C1 gene in Hailey-Hailey disease patients: one novel deletion and one novel splicing mutation. 38
24981372 2015
183
Two novel ATP2C1 mutations in patients with Hailey-Hailey disease and a literature review of sequence variants reported in the Chinese population. 38
26782588 2015
184
Carbon dioxide laser treatment for Hailey-Hailey disease: a retrospective chart review with patient-reported outcomes. 38
26341946 2015
185
A three-dimensional in vitro culture model of Hailey-Hailey disease. 38
26121994 2015
186
Extensive Darier Disease Successfully Treated with Doxycycline Monotherapy. 38
26594170 2015
187
A case of bullous pemphigoid associated with psoriasis vulgaris showing Hailey-Hailey disease-like histopathological changes in regenerated epidermis without genomic mutation in ATP2C1 or ATP2A2 gene. 38
24750354 2015
188
Skin aging, gene expression and calcium. 38
25262846 2015
189
A recurrent melanocytic nevus phenomenon in the setting of Hailey-Hailey disease. 38
25950447 2015
190
Desmocollin-specific antibodies in a patient with Hailey-Hailey disease. 38
25580559 2015
191
Hailey-Hailey disease: A fold (intertriginous) dermatosis. 38
26051060 2015
192
Laser therapy for the treatment of Hailey-Hailey disease: a systematic review with focus on carbon dioxide laser resurfacing. 38
25418614 2015
193
Acantholytic dermatosis of the vulva. 38
26295855 2015
194
Successful treatment of refractory Hailey-Hailey disease with a 595-nm pulsed dye laser: a series of 7 cases. 38
25773417 2015
195
Manganese redistribution by calcium-stimulated vesicle trafficking bypasses the need for P-type ATPase function. 38
25713143 2015
196
Successful treatment of hailey-hailey disease with aminolevulinic Acid photodynamic therapy. 38
25834370 2015
197
Remission of refractory benign familial chronic pemphigus (hailey-hailey disease) with the addition of systemic cyclosporine. 38
25775626 2015
198
Hailey-Hailey disease: investigation of a possible compensatory SERCA2 up-regulation and analysis of SPCA1, p63, and IRF6 expression. 38
25256005 2015
199
Oral glycopyrrolate for the treatment of Hailey-Hailey disease. 38
25651401 2015
200
Bullous melanoma: a rare variant of melanoma causing practical problems in determination of tumor thickness. 38
25079203 2015
201
Identification of several mutations in ATP2C1 in Lebanese families: insight into the pathogenesis of Hailey-Hailey disease. 38
25658765 2015
202
Hailey-Hailey disease with skin lesions at unusual sites and a good response to acitretin. 38
25566918 2015
203
A family with atypical Hailey Hailey disease--is there more to the underlying genetics than ATP2C1? 38
25837627 2015
204
Successful botulinum toxin (onabotulinumtoxinA) treatment of Hailey-Hailey disease. 38
25607910 2015
205
Hailey-Hailey disease improved by fractional CO2 laser. 38
25602185 2015
206
Efficacy of magnesium chloride in the treatment of Hailey-Hailey disease: from serendipity to evidence of its effect on intracellular Ca(2+) homeostasis. 38
25430969 2015
207
Reflectance confocal microscopy and Hailey-Hailey disease: assessment of response to treatment after CO2 laser ablation. 38
25482702 2014
208
Reflectance confocal microscopy as a non-invasive diagnostic tool for Hailey-Hailey disease. 38
24528151 2014
209
Hailey-Hailey disease and review of management. 38
25607561 2014
210
Remission of refractory benign familial chronic pemphigus (hailey-hailey disease) with the addition of systemic cyclosporine. 38
25278261 2014
211
Hailey-Hailey disease associated with herpetic eczema-the value of the Tzanck smear test. 38
25396081 2014
212
Hailey-Hailey disease exacerbated by multiple pregnancies: case report and review of the literature. 38
25526005 2014
213
Using yeast to model calcium-related diseases: example of the Hailey-Hailey disease. 38
24583118 2014
214
Diagnostic value of nail examination in Hailey-Hailey disease. 38
25445094 2014
215
Hailey-Hailey disease. 38
25101346 2014
216
Mutation-dependent effects on mRNA and protein expressions in cultured keratinocytes of Hailey-Hailey disease. 38
24698124 2014
217
Successful treatment with narrow-band UVB therapy for a case of generalized Hailey-Hailey disease with a novel splice-site mutation in ATP2C1 gene. 38
24962025 2014
218
Mononeuritis multiplex: association with infectious condition and familial background in a tropical environment: a case report. 38
24664309 2014
219
Type 2 segmental Hailey-Hailey disease with systematized bilateral arrangement. 38
24320931 2014
220
Hailey-hailey disease responding to thalidomide. 38
24700941 2014
221
Familial benign chronic pemphigus and doxycycline: a review of 6 cases. 38
23106313 2014
222
Efficacy of the melanocortin analogue Nle4-D-Phe7-α-melanocyte-stimulating hormone in the treatment of patients with Hailey-Hailey disease. 38
24256215 2014
223
Hailey-Hailey disease diagnosed based on an exacerbation of contact dermatitis with topical crotamiton. 38
24721608 2014
224
Combined therapeutic use of oral alitretinoin and narrowband ultraviolet-B therapy in the treatment of hailey-hailey disease. 38
25386331 2014
225
Tzanck smear utilized in the diagnosis of Hailey-Hailey disease mimicking genital herpes. 38
24117014 2014
226
Sibling cases of Hailey-Hailey disease showing atypical clinical features and unique disease course. 38
24352221 2014
227
Successful therapy of refractory Hailey-Hailey disease with oral alitretinoin. 38
23937159 2014
228
Oral terbinafine as an alternative treatment for Hailey-Hailey disease. 38
23659757 2013
229
A novel ATP2C1 early truncation mutation suggests haploinsufficiency as a pathogenic mechanism in a patient with Hailey-Hailey disease. 38
23474827 2013
230
What's in a name?: Hailey-Hailey disease. 38
24132318 2013
231
Hailey-hailey disease on sun-exposed areas. 38
24082234 2013
232
Hailey-hailey disease treated with topical tacalcitol. 38
24003293 2013
233
The secretory pathway calcium ATPase PMR-1/SPCA1 has essential roles in cell migration during Caenorhabditis elegans embryonic development. 38
23696750 2013
234
Carbon dioxide laser treatment in Hailey-Hailey disease: a series of 8 patients. 38
23582735 2013
235
A familial case of Hailey-Hailey disease successfully treated with minocycline and nicotinamide. 38
23518512 2013
236
Six novel mutations of ATP2C1 identified in eight Chinese patients with Hailey-Hailey disease. 38
23442470 2013
237
Papular acantholytic dermatosis in the genito-crural region: a localized form of Darier disease or Hailey-Hailey disease? 38
22995947 2013
238
Reflectance confocal microscopy characteristics of eight cases of pustular eruptions and histopathological correlations. 38
22934633 2013
239
How do keratinizing disorders and blistering disorders overlap? 38
23039137 2013
240
Overlapping ATP2C1 and ASTE1 genes in human genome: implications for SPCA1 expression? 38
23344038 2013
241
Successful therapeutic use of targeted narrow-band ultraviolet B therapy for refractory Hailey-Hailey disease. 38
22735754 2013
242
Painful erosions induced by patch testing in a patient with Hailey-Hailey disease. 38
22233195 2013
243
[Acantholytic rosacea of the forehead and scalp in a patient with Hailey-Hailey disease]. 38
23122375 2012
244
Four novel mutations of the ATP2C1 gene in Chinese patients are associated with familial benign chronic pemphigus. 38
22607350 2012
245
[Antidesmoglein antibodies in a patient with Hailey-Hailey disease]. 38
23122374 2012
246
A novel splice mutation in the ATP2C1 gene in a woman with concomitant psoriasis vulgaris and disseminated Hailey-Hailey disease. 38
22788811 2012
247
Hailey-Hailey disease and tight junctions: Claudins 1 and 4 are regulated by ATP2C1 gene encoding Ca(2+) /Mn(2+) ATPase SPCA1 in cultured keratinocytes. 38
22639968 2012
248
[Botulinum toxin A for the treatment of familial benign pemphigus]. 38
21872830 2012
249
Topical tacrolimus and 50% zinc oxide paste for Hailey-Hailey disease: less is more. 38
22293917 2012
250
Genitoperineal papular acantholytic dyskeratosis is allelic to Hailey-Hailey disease. 38
22229453 2012
251
Acute generalized erythematous pustulosis occurring with Hailey-Hailey disease. 38
23008946 2012
252
Hailey-Hailey disease treated with methotrexate. 38
22826719 2012
253
Impaired manganese metabolism causes mitotic misregulation. 38
22493290 2012
254
Detection and comparison of two types of ATP2C1 gene mutations in Chinese patients with Hailey-Hailey disease. 38
22124882 2012
255
Analysis of ATP2C1 gene mutations in Chinese patients with Hailey-Hailey disease. 38
21883398 2012
256
Generalized Hailey-Hailey disease triggered by nonsteroidal antiinflammatory drug-induced rash: case report. 38
23069308 2012
257
Evaluation of clinical and histopathologic/direct immunofluorescence diagnosis in autoimmune vesiculobullous dermatitis: utility of direct immunofluorescence. 38
22207426 2012
258
Pityriasis rubra pilaris: the clinical context of acantholysis and other histologic features. 38
22097993 2011
259
Bullous Darier's disease mimicking Hailey-Hailey disease. 38
22984662 2011
260
Oxidative stress activation of miR-125b is part of the molecular switch for Hailey-Hailey disease manifestation. 38
21913998 2011
261
Novel clinical and molecular findings in Chinese families with Hailey-Hailey disease. 38
21623880 2011
262
Hailey-Hailey disease: effective treatment with topical cadexomer iodine. 38
20673150 2011
263
Diagnostic procedures in dermatology. 38
21855731 2011
264
Effective treatment of Hailey-Hailey disease with a long-pulsed (5 ms) alexandrite laser. 38
21692642 2011
265
Laser therapy for Hailey-Hailey disease: review of the literature and a case report. 38
25386280 2011
266
Segmental multilayered argon plasma coagulation: effective therapy option for perianal and scrotal Hailey-Hailey disease. 38
20478009 2011
267
Refractory Hailey-Hailey disease successfully treated with sandpaper dermabrasion. 38
21980715 2011
268
Ectopic facial Hailey-Hailey disease. 38
21679827 2011
269
Familial benign chronic pemphigus (Hailey-Hailey Disease): use of topical immunomodulators as a modern treatment option. 38
22051715 2011
270
Secretory pathway stress responses as possible mechanisms of disease involving Golgi Ca2+ pump dysfunction. 38
21674634 2011
271
Cold atmospheric plasma: a successful treatment of lesions in Hailey-Hailey disease. 38
21482888 2011
272
[Familial benign chronic pemphigus (Hailey-Hailey disease): successful treatment with carbon dioxide laser]. 38
21424889 2011
273
A case of Hailey-Hailey disease in an infant with a new ATP2C1 gene mutation. 38
20403116 2011
274
A novel missense mutation of the ATP2C1 gene in a Chinese patient with Hailey-Hailey disease. 38
21329674 2011
275
Two patients with Hailey-Hailey disease, multiple primary melanomas, and other cancers. 38
21339448 2011
276
The practical use of cytology for diagnosis in dermatology. 38
20553359 2011
277
Hailey-Hailey disease: A case treated with topical tacrolimus. 38
23130220 2011
278
Familial benign chronic pemphigus (Hailey-Hailey disease). 38
21163165 2010
279
Dermoscopy of longitudinal leukonychia in Hailey-Hailey disease. 38
20956678 2010
280
Heterogeneous mutations of the ATP2C1 gene causing Hailey-Hailey disease in Hong Kong Chinese. 38
20236194 2010
281
Squamous cell carcinoma arising from a localized vulval lesion of Hailey-Hailey disease after tacrolimus therapy. 38
20816142 2010
282
Hailey-Hailey disease treatment with Botulinum toxin type A. 38
21152802 2010
283
Pitfall: pemphigus herpeticatus should not be confounded with resistant pemphigus vulgaris. 38
19895326 2010
284
[Mutation analysis of ATP2C1 gene in a Chinese family with Hailey-Hailey disease]. 38
20677148 2010
285
Grover disease: a reappraisal of histopathological diagnostic criteria in 120 cases. 38
20526170 2010
286
Benign familial pemphigus (Hailey-Hailey disease) responsive to low dose cyclosporine. 38
20657133 2010
287
Successful laser therapy of a papular acantholytic dyskeratosis of the vulva: case report and review of literature. 38
20012979 2010
288
Hailey-Hailey disease in Tunisia. 38
20465693 2010
289
Persistent improvement of previously recalcitrant Hailey-Hailey disease with electron beam radiotherapy. 38
20169303 2010
290
Complex multipathways alterations and oxidative stress are associated with Hailey-Hailey disease. 38
19903178 2010
291
Methotrexate for refractory Hailey-Hailey disease. 38
19627406 2010
292
[Hailey-Hailey disease. Case for diagnosis]. 38
20191184 2009
293
Superimposed segmental manifestation of both rare and common cutaneous disorders: a new paradigm. 38
20096200 2009
294
Tight junctions in Hailey-Hailey and Darier's diseases. 38
25386233 2009
295
Successful treatment of Hailey-Hailey disease with topical 5-fluorouracil. 38
19663874 2009
296
A case of eczema herpeticum with hailey-hailey disease. 38
20523813 2009
297
Reevaluation of the normal epidermal calcium gradient, and analysis of calcium levels and ATP receptors in Hailey-Hailey and Darier epidermis. 38
19052563 2009
298
Development of familial benign chronic pemphigus in a patient undergoing treatment with efalizumab for psoriasis. 38
18759787 2009
299
[Botulinum toxin in disabling dermatological diseases]. 38
19576479 2009
300
Perianal Hailey-Hailey disease: an unusual differential diagnosis of condylomata acuminata. 38
18931279 2008
301
Uncommon flexural presentation of Darier disease. 38
18845096 2008
302
Hailey-hailey disease: a novel method of management by radiofrequency surgery. 38
20300352 2008
303
Supernumerary nipples in association with Hailey-Hailey disease in a Tunisian family. 38
18713596 2008
304
Genetic diagnosis in a Chinese Hailey-Hailey disease pedigree with novel ATP2C1 gene mutation. 38
18259764 2008
305
Longitudinal leukonychia in Hailey-Hailey Disease: a sign not to be missed. 38
18627718 2008
306
A case report of Hailey-Hailey disease treated with alefacept (Amevive). 38
17941942 2008
307
Hailey-Hailey disease from a clinical perspective. 38
17707506 2008
308
Experience with photodynamic therapy in Hailey-Hailey disease. 38
18608733 2008
309
Botulinum toxin type A as an adjuvant treatment modality for extensive Hailey-Hailey disease. 38
18629693 2008
310
Occult herpes simplex virus colonization of bullous dermatitides. 38
18429645 2008
311
A case of bullous Darier's disease histologically mimicking Hailey-Hailey disease. 38
18328222 2007
312
Successful treatment of Hailey-Hailey disease with acitretin. 38
17763599 2007
313
Fixed and soluble immune complexes in the epidermis in Hailey-Hailey disease. 38
17535412 2007
314
Effective treatment of recalcitrant Hailey-Hailey disease with electron beam radiotherapy. 38
17374007 2007
315
Human papillomavirus type 5 infection in a patient with Hailey-Hailey disease successfully treated with imiquimod. 38
17300256 2007
316
Presence of human papillomavirus type 6 DNA in the perineal verrucoid lesions of Hailey-Hailey disease. 38
17062074 2006
317
Autosomal-dominant calcium ATPase disorders. 38
16794587 2006
318
Novel cutaneous uses for botulinum toxin type A. 38
17177750 2006
319
Hailey-Hailey disease with affective disorder: report of a case with novel ATP2C1 gene mutation. 38
16644186 2006
320
[Efficacy of topical tacrolimus in Hailey-Hailey disease]. 38
16760841 2006
321
Anaesthesia in patient with Hailey-Hailey disease. 38
16674646 2006
322
Case reports of etanercept in inflammatory dermatoses. 38
16488329 2006
323
Lithium suppresses epidermal SERCA2 and PMR1 levels in the rat. 38
17189987 2006
324
A case of Darier's disease successfully treated with topical tacrolimus. 38
16405615 2006
325
Disseminated Hailey-Hailey disease treated with topical tacrolimus and oral erythromycin: Case report and review of the literature. 38
17311740 2006
326
Aminoglycosides as potential pharmacogenetic agents in the treatment of Hailey-Hailey disease. 38
16417242 2006
327
Oesophageal involvement in familial benign chronic pemphigus. 38
16710588 2006
328
Bacterial infection-induced generalized Hailey-Hailey disease successfully treated by etretinate. 38
16309483 2006
329
Botulinum toxin in dermatology - beyond wrinkles and sweat. 38
17168867 2005
330
Relapsing linear acantholytic dermatosis in a four-year-old boy. 38
16394463 2005
331
Hailey-Hailey disease failing to respond to treatment. 38
16045714 2005
332
[Treatment of Hailey-Hailey disease with carbon dioxide laser vaporization]. 38
16230912 2005
333
Undiagnosed Hailey-Hailey disease causing painful erosive skin changes during patch testing. 38
16029372 2005
334
Effects of ultraviolet B irradiation, proinflammatory cytokines and raised extracellular calcium concentration on the expression of ATP2A2 and ATP2C1. 38
15840101 2005
335
[Tacrolimus--a new therapeutic option for Hailey-Hailey-disease?]. 38
16370477 2005
336
Hailey-Hailey disease responsive to topical calcitriol. 38
15840130 2005
337
Hailey-Hailey disease exacerbated by scabies. 38
15863873 2005
338
A novel isoform of the secretory pathway Ca2+,Mn(2+)-ATPase, hSPCA2, has unusual properties and is expressed in the brain. 38
15677451 2005
339
Deficiency of ATP2C1, a Golgi ion pump, induces secretory pathway defects in endoplasmic reticulum (ER)-associated degradation and sensitivity to ER stress. 9
15623514 2005
340
'Atypical' cases of hailey-hailey disease may represent typical examples of a type 2 segmental manifestation. 38
15785043 2005
341
Topical tacrolimus in Hailey-Hailey disease. 38
16440577 2005
342
Severe impairment of quality of life in Hailey-Hailey disease. 38
15823906 2005
343
Expression of Hailey-Hailey disease mutations in yeast. 38
15610533 2004
344
Hailey-Hailey disease and calcium: lessons from yeast. 38
15610534 2004
345
Yeast researchers consider Hailey-Hailey disease. 38
15610504 2004
346
[What is your diagnosis? Familial benign chronic pemphigus]. 38
15672763 2004
347
Smoothbeam laser treatment may help improve hidradenitis suppurativa but not Hailey-Hailey disease. 38
15545102 2004
348
Calcium pump disorders of the skin. 38
15468148 2004
349
[Patterns on the skin. New aspects of their embryologic and genetic causes]. 38
15351866 2004
350
Is topical tacrolimus really an effective therapy for Hailey-Hailey disease? 38
15492199 2004
351
Functional expression of heterologous proteins in yeast: insights into Ca2+ signaling and Ca2+-transporting ATPases. 38
15308463 2004
352
Treatment of Hailey-Hailey disease with topical calcitriol. 38
15337998 2004
353
Treatment of Hailey-Hailey disease with tacrolimus ointment and clobetasol propionate foam. 38
15098980 2004
354
Immunohistochemical examination of P-cadherin in bullous and acantholytic skin diseases. 38
15206690 2004
355
Topical tacrolimus ointment is an effective therapy for Hailey-Hailey disease. 38
14623698 2003
356
Actin reorganization is abnormal and cellular ATP is decreased in Hailey-Hailey keratinocytes. 38
14632182 2003
357
Type 1 segmental manifestation of Hailey-Hailey disease. 38
14512922 2003
358
[Study on gene mutation in 11 Chinese families with Hailey-Hailey disease]. 38
12947555 2003
359
Was Henri Gougerot the first to describe "Hailey-Hailey Disease"? 38
12775990 2003
360
Physiological functions of plasma membrane and intracellular Ca2+ pumps revealed by analysis of null mutants. 38
12763865 2003
361
[Disseminated M. Hailey-Hailey]. 38
12669216 2003
362
Benign familial pemphigus: little benefit from superficial radiotherapy. 38
12423441 2002
363
Photodynamic therapy with 5-aminolevulinic acid for recalcitrant familial benign pemphigus (Hailey-Hailey disease). 38
12399767 2002
364
Effective treatment of Hailey-Hailey disease with topical tacrolimus. 38
12399782 2002
365
Hailey-Hailey disease on sun-exposed areas. 38
12390681 2002
366
Acute generalized Hailey-Hailey disease. 38
12139673 2002
367
Botulinum toxin type A as an effective adjuvant therapy for Hailey-Hailey disease. 38
12081692 2002
368
Atopic dermatitis is associated with a decrement in health-related quality of life. 38
12010340 2002
369
Intracutaneous botulinum toxin A versus ablative therapy of Hailey-Hailey disease--a case report. 38
12554326 2001
370
Contact irritation provoking Hailey-hailey disease. 38
11417525 2001
371
Desmosomes: structure and function in normal and diseased epidermis. 38
11476106 2001
372
[Segmental type 2 manifestation of autosome dominant skin diseases. Development of a new formal genetic concept]. 38
11382117 2001
373
The Golgi PMR1 P-type ATPase of Caenorhabditis elegans. Identification of the gene and demonstration of calcium and manganese transport. 38
11134055 2001
374
Acantholytic dermatosis of the vulvocrural area. 38
11270294 2001
375
Cloning and characterization of human WDR10, a novel gene located at 3q21 encoding a WD-repeat protein that is highly expressed in pituitary and testis. 38
11242542 2001
376
Hailey-Hailey disease: exacerbation by scabies. 38
11167724 2001
377
[Hailey-Hailey disease]. 38
11173697 2000
378
Squamous cell carcinoma arising in Hailey-Hailey disease. 38
10901726 2000
379
Giant-sized condyloma of the breast with focal acantholytic changes. 38
10885411 2000
380
Type 2 segmental manifestation of Hailey-Hailey disease: poor therapeutic response to dermabrasion is due to severe involvement of adnexal structures. 38
10846251 2000
381
Botulinum toxin type A for the treatment of axillary Hailey-Hailey disease. 38
10759827 2000
382
Dissociation of intra- and extracellular domains of desmosomal cadherins and E-cadherin in Hailey-Hailey disease and Darier's disease. 38
10792220 2000
383
Genetic basis of Darier-White disease: bad pumps cause bumps. 38
11179934 2000
384
Squamous cell carcinoma arising in Hailey-Hailey disease of the vulva. 38
10735968 2000
385
Successful treatment of Hailey-Hailey disease with a scanned carbon dioxide laser. 38
10721838 2000
386
[Intracellular calcium: physiology and physiopathology]. 38
11196578 2000
387
[Efficacy of CO2 laser in Hailey-Hailey disease. A case report]. 38
10609379 1999
388
[Intertriginous acantholytic dyskeratosis: abortive form of Darier disease or a specific entity?]. 38
10550360 1999
389
Treatment of Hailey-Hailey disease (or benign familial pemphigus) using short pulsed and short dwell time carbon dioxide lasers. 38
10491050 1999
390
Internalization of gap junctions in benign familial pemphigus (Hailey-Hailey disease) and keratosis follicularis (Darier's disease). 38
10468792 1999
391
Clinical analysis of 69 patients with familial benign chronic pemphigus. 38
11601291 1999
392
Hereditary diseases of desmosomes. 38
10379701 1999
393
Efficacy of erbium:YAG laser ablation in Darier disease and Hailey-Hailey disease. 38
10206049 1999
394
Grover's disease: clinicopathologic review of 72 cases. 38
10089990 1999
395
Human papillomavirus types 16 and 39 in a vulval carcinoma occurring in a woman with Hailey-Hailey disease. 38
10233276 1999
396
Coexistence of psoriasis and familial benign chronic pemphigus: efficacy of ultraviolet B treatment. 38
10233250 1999
397
Benign familial pemphigus (Hailey-Hailey disease). Treatment with the pulsed carbon dioxide laser. 38
9865214 1998
398
1alpha,24-dihydroxyvitamin D3 (tacalcitol) is effective against Hailey-Hailey disease both in vivo and in vitro. 38
9892963 1998
399
Relationship between keratinocyte adhesion and death: anoikis in acantholytic diseases. 38
9836502 1998
400
The simultaneous occurrence of Hailey-Hailey disease, Graves' disease and multiple sclerosis in the same patient. 38
9228239 1997
401
Conjunctival involvement in familial chronic benign pemphigus (Hailey-Hailey disease). 38
9169328 1997
402
Dominantly inherited epidermal acantholysis in dogs, simulating human benign familial chronic pemphigus (Hailey-Hailey disease). 38
9068730 1997
403
Hailey-Hailey disease keratinocytes: normal assembly of cell-cell junctions in vitro. 38
8941678 1996
404
Handicap in Darier's disease and Hailey-Hailey disease. 38
8977719 1996
405
Vesiculobullous Hailey-Hailey disease: successful treatment with oral retinoids. 38
8961587 1996
406
Focal adhesion kinase is expressed in acantholytic keratinocytes associated with pemphigus vulgaris and pemphigus foliaceus. 38
8915152 1996
407
Involvement of the adherens junction-actin filament system in acantholytic dyskeratosis of Hailey-Hailey disease. A histological, ultrastructural, and histochemical study of lesional and non-lesional skin. 38
8793655 1996
408
Hailey-Hailey disease with acrokeratosis verruciformis Hopf. 38
8740277 1996
409
Serum is a potent stimulator of keratinocyte tissue plasminogen activator expression. 38
8601722 1996
410
Immunolocalization of human gelatinase (type IV collagenase, MMP-9) and tissue inhibitor of metalloproteinase 1 in Hailey-Hailey and Darier's diseases. 38
8884145 1996
411
Relapsing linear acantholytic dermatosis. 38
7593812 1995
412
Bullous drug eruption to griseofulvin in a man with Hailey-Hailey disease. 38
8565613 1995
413
[Exacerbation of Hailey-Hailey disease by infection with herpes simplex virus. Detection with polymerase chain reaction]. 38
7672991 1995
414
Benign familial chronic pemphigus (Hailey-Hailey disease) responds to cyclosporin. 38
7671404 1995
415
Hailey-Hailey disease. Eradication by dermabrasion. 38
8085869 1994
416
Hailey-Hailey disease is not allelic to Darier's disease. 38
7516400 1994
417
Immunohistochemical distribution of CD44 and desmoplakin I & II in Hailey-Hailey's disease and Darier's disease. 9
7520458 1994
418
[Pemphigus chronicus benignus familiaris (Hailey-Hailey disease) and bipolar affective disease in 3 members of a family]. 38
8050901 1994
419
Acantholytic dermatosis localized to genitalia and crural areas of male patients: a report of three cases. 38
8188931 1994
420
Cantharidin-induced acantholysis: adhesion molecules, proteases, and related proteins. 38
7510121 1994
421
Rare anorectal pathologic conditions. 38
7583937 1994
422
Incidental acantholysis. 38
8300927 1993
423
[Surgical treatment of Hailey-Hailey disease or benign chronic familial pemphigus. Apropos of a case of submammary localization]. 38
7944232 1993
424
Hailey-Hailey disease masquerading as candidiasis. 38
8103482 1993
425
Familial cosegregation of affective disorder and Hailey-Hailey disease. 38
8353676 1993
426
[Hailey-Hailey disease. Early detection of heterozygotes by an ultraviolet provocation tests--clinical relevance of the method]. 38
8335461 1993
427
Successful management of Hailey-Hailey disease with potent topical steroid ointment. 38
8241075 1993
428
Treatment of Hailey-Hailey disease by dermabrasion. 38
8496429 1993
429
Eczema herpeticum in association with familial benign chronic pemphigus. 38
8432925 1993
430
Topical cyclosporine in chronic benign familial pemphigus (Hailey-Hailey disease). 38
1401318 1992
431
Dermabrasion of Hailey-Hailey disease and Darier's disease. 38
1619066 1992
432
[Leukonychia longitudinalis as the primary symptom of Hailey-Hailey disease]. 38
1506206 1992
433
Genital benign chronic pemphigus (Hailey-Hailey disease) presenting as condylomas. 38
1607414 1992
434
Hailey-Hailey disease--exacerbation by herpes simplex virus and patch tests. 38
1451302 1992
435
Seborrhoeic dermatitis of the scalp--a manifestation of Hailey-Hailey disease in a predisposed individual? 38
1532504 1992
436
Cell adhesion in Hailey-Hailey disease and Darier's disease: immunocytological and explant-tissue-culture studies. 38
1751348 1991
437
Surgical management of Hailey-Hailey disease. 38
1918483 1991
438
An immunohistological study of desmosomes in Darier's disease and Hailey-Hailey disease. 38
2018730 1991
439
Desmoplakin I and II in acantholytic dermatoses: preservation in pemphigus vulgaris and pemphigus erythematosus and dissolution in Hailey-Hailey's disease and Darier's disease. 9
2054341 1991
440
No significant change of glycoconjugates exists in the epidermis of familial benign chronic pemphigus. 38
1723871 1991
441
mRNA for tissue-type plasminogen activator is present in lesional epidermis from patients with psoriasis, pemphigus, or bullous pemphigoid, but is not detected in normal epidermis. 38
2121833 1990
442
Carbon dioxide laser vaporization of recalcitrant symptomatic plaques of Hailey-Hailey disease and Darier's disease. 38
2123894 1990
443
Familial benign chronic pemphigus (Hailey-Hailey disease) and contact allergies. 38
2145330 1990
444
[Genetics of Hailey-Hailey familial chronic benign pemphigus]. 38
2083607 1990
445
Darier's disease, familial benign chronic pemphigus (Hailey-Hailey disease) and contact hypersensitivity. 38
2137137 1990
446
[The photochemotherapy of Hailey-Hailey disease]. 38
2256369 1990
447
Immunohistochemical localization of desmosomal and cytoskeletal proteins in the epidermis of healthy individuals and patients with Hailey-Hailey's disease. 9
1694381 1990
448
Histologic findings of Hailey-Hailey disease in a patient with bullous pemphigoid. 38
2681296 1989
449
Reproduction of the characteristic morphologic changes of familial benign chronic pemphigus in cultures of lesional keratinocytes onto dead deepidermized dermis. 38
2808832 1989
450
Acantholytic dermatosis localized to the vulvocrural area. 38
2760291 1989
451
Wide excision of perineal Hailey-Hailey disease with healing by secondary intention. 38
2702374 1989
452
[Surgical treatment of Hailey-Hailey disease by surgical grafting (2d report): results after a 5-year follow-up]. 38
2619203 1989
453
Acantholytic acanthoma. 38
2461398 1988
454
Chronic benign familial pemphigus. 38
3065260 1988
455
Unusual presentation of familial benign chronic pemphigus. 38
3410673 1988
456
Squamous cell carcinoma arising in Hailey-Hailey disease. 38
3183139 1988
457
[Hailey-Hailey disease with dissemination and eczema herpeticatum in therapy with etretinate]. 38
2975644 1988
458
Epidermal plasminogen activator is abnormal in cutaneous lesions. 38
3131439 1988
459
[Benign familial chronic pemphigus and pityriasis rosea. Clinical aspects and histology of the coexistence of both dermatoses]. 38
3403270 1988
460
[Hailey-Hailey disease. Evidence of ectopic calcifications in 3 cases]. 38
3410505 1988
461
Surgical control of Hailey-Hailey disease. 38
3318985 1987
462
Carbon dioxide laserabrasion: a new approach to management of familial benign chronic pemphigus (Hailey-Hailey disease). 38
3117856 1987
463
Herpes simplex associated with Hailey-Hailey disease. 38
3668020 1987
464
[Treatment of Hailey-Hailey disease]. 38
3666801 1987
465
Familial benign chronic pemphigus. 38
3551656 1987
466
Familial benign chronic pemphigus. 38
3802913 1987
467
Retinoids in disorders of keratinization: their use in adults. 38
2961628 1987
468
Plasmin induces acantholysis in skin organ cultures. 38
2957965 1987
469
[Combination of psoriasis and Hailey-Hailey disease]. 38
3673251 1987
470
[Clinical aspects, diagnosis and treatment of chronic benign familial pemphigus (Gougerot-Hailey-Hailey disease)]. 38
3617924 1987
471
Familial benign chronic pemphigus generalized by Pseudomonas infection. 38
3549826 1986
472
[Therapeutic activity of calcitriol (1,25-dihydroxycholecalciferol) in Hailey-Hailey disease]. 38
3839766 1985
473
[Chronic benign familial pemphigus. Clinical, histological and immunological study of 7 cases]. 38
3912629 1985
474
Familial benign chronic pemphigus appearing as leukoplakia of the vulva. 38
6500799 1984
475
[Surgical treatment of Hailey-Hailey disease with surgical grafts]. 38
6397092 1984
476
Hailey-Hailey disease--case report. 38
6672559 1983
477
Hailey-Hailey disease: response to vitamin E therapy. 38
6859881 1983
478
Isolated perianal verrucoid familial benign chronic pemphigus. 38
7172747 1982
479
Familial benign chronic pemphigus. 38
6753764 1982
480
"Familial benign chronic pemphigus" by Hailey and Hailey, April 1939. Commentary: Hailey-Hailey disease, familial benign chronic pemphigus. 38
6753757 1982
481
Surgical management of familial benign chronic pemphigus by excision and primary closure. 38
7149568 1982
482
Surgical management of familial benign chronic pemphigus (Hailey-Hailey disease) by excision and primary closure. 38
7096674 1982
483
Vaginal involvement in familial benign chronic pemphigus (Morbus Hailey-Hailey). 38
6175148 1982
484
Hailey-Hailey disease. Report of a case treated surgically. 38
7030648 1981
485
Surgical treatment of familial benign chronic pemphigus. 38
7027965 1981
486
Atypical familial benign chronic pemphigus. 38
7238118 1981
487
Esophagitis dissecans superficialis associated with pemphigus vulgaris. 38
7016940 1981
488
[Hailey-Hailey disease]. 38
7257898 1981
489
Surgical management of Hailey-Hailey disease: report of a case. 38
7410688 1980
490
Ultraviolet light in familial benign chronic pemphigus. 38
521531 1979
491
Disrupted desmosomes in induced lesions of familial benign chronic pemphigus. 38
521532 1979
492
[Familial benign chronic pemphigus or Hailey-Hailey disease (apropos of a case)]. 38
546609 1979
493
Keratosis follicularis and familial benign chronic pemphigus in the same patient. 38
478073 1979
494
Multinucleate epidermal cells in non-neoplastic dermatoses. 38
708622 1978
495
Simultaneous occurrence of familial benign chronic pemphigus (Hailey-Hailey disease) and syringoma on the vulva. 38
646408 1978
496
[Familial benign Hailey-Hailey disease]. 38
636590 1978
497
Isolated familial benign chronic pemphigus. 38
900981 1977
498
Bi-directional isomorphism: coexistence of psoriasis vulgaris and familial benign chronic pemphigus. 38
869558 1977
499
A peculiar acantholytic dermatosis. 38
15461335 1977
500
Coexistence of benign familial pemphigus and psoriasis vulgaris. 38
984864 1976
501
Familial benign chronic pemphigus: report of a case. 38
1044653 1976
502
Familial benign chronic pemphigus (Hailey-Hailey disease). 38
993398 1976
503
[Familial benign chronic pemphigus (Hailey-Hailey disease). Study of 3 cases in a family]. 38
1180140 1975
504
Treatment of familial benign chronic pemphigus by skin grafting. 38
52977 1975
505
Surgical management of familial benign chronic pemphigus. Case report. 38
4605192 1974
506
Esophageal involvement in familial benign chronic pemphigus. 38
4828539 1974
507
Familial benign chronic pemphigus. A papular variant. 38
4764714 1973
508
[Darier's disease and Hailey-Hailey disease: comparative study of the uptake of tritiated thymidine in epidermal cells]. 38
4597062 1973
509
Superinfection induced by antibiotics in familial benign chronic pemphigus. 38
4120810 1973
510
Hailey-Hailey disease in a black family. 38
4639937 1972
511
Familial benign chronic pemphigus. 38
5060881 1972
512
Hailey-Hailey disease (chronic benign familial pemphigus). 38
5173285 1971
513
Familial benign chronic pemphigus of perianal skin. 38
5552347 1971
514
[Varioliform psutulosis of Kaposi and Juliusberg of herpetic origin, superinfected with a bullous genodermatosis in a 21-year-old girl: Hailey-Hailey disease, transitional form with Darier's disease. Familial study and discussion]. 38
4332506 1971
515
Hailey-hailey disease--an electron microcopic study. 38
5440021 1970
516
[Note on the behavior of steroid hormone secretion in Hailey-Hailey disease]. 38
5450210 1970
517
Microbial flora in familial benign chronic pemphigus. 38
5413251 1970
518
Familial Benign Chronic Pemphigus (hailey & Hailey). 38
29160258 1970
519
[Familial benign chronic pemphigus. Hailey-Hailey disease]. 38
5395721 1969
520
Familial Benign Chronic Pemphigus of Hailey and Hailey. 38
29176124 1969
521
Surgical eradication of familial benign chronic pemphigus from the axillae. Report of a case. 38
5822368 1969
522
Histochemical study of oxidative enzymes and cysteine desulfurase in familiar benign chronic pemphigus and Darier's disease. 38
4390259 1969
523
[Familial benign chronic pemphigus (Hailey-Hailey disease). Electron microscopic study]. 38
4185723 1969
524
[A case of Hailey-Hailey disease]. 38
5801694 1969
525
Surgical treatment of familial chronic pemphigus (Hailey-Hailey disease). Report of a case. 38
5684227 1968
526
[Hailey-Hailey's familial benign chronic pemphigus diagnosed in a 37-year-old]. 38
5688406 1968
527
[Hailey-Hailey familial, benign, chronic pemphigus diagnosed only at the age of 43. Study of the karyotype]. 38
5677927 1968
528
[Hailey-Hailey, familial benign chronic pemphigus diagnosed at age 37]. 38
5677916 1968
529
[Seborrheic eczematous erythroderma revealing Gougerot-Hailey-Hailey disease]. 38
4235575 1968
530
[Hailey-Hailey disease with predominant vulvar localization. Genetic and ultrastructural study]. 38
5723939 1968
531
Ultraviolet-induced acantholysis in familial benign chronic pemphigus. Detection of the forme fruste. 38
6075780 1967
532
Hailey-Hailey disease. 38
6037931 1967
533
Familial benign chronic pemphigus. 38
5910874 1966
534
[Present nosologic picture of the Hailey-Hailey disease. Second clinico-experimental note]. 38
5935092 1966
535
[Present nosologic classification of the Hailey-Hailey disease. I. Clinical and histocytomorphologic study]. 38
5858642 1965
536
Bullous dyskeratosis follicularis and acrokeratosis verruciformis. Report of a case. 38
11850920 1965
537
[Darier's disease and Hailey-Hailey disease associated in the same patient]. 38
5859863 1965
538
[Hailey-Hailey disease (?)]. 38
5842178 1965
539
[NEW CASE OF HAILEY-HAILEY DISEASE ASSOCIATED WITH DARIER'S DISEASE]. 38
14335359 1965
540
KERATOSIS FOLLICULARIS (DARIER) AND FAMILIAL BENIGN CHRONIC PEMPHIGUS (HAILEY-HAILEY) IN THE SAME PATIENT. 38
14252680 1965
541
[ACANTHOLYSIS IN FAMILIAL BENIGN CHRONIC PEMPHIGUS]. 38
14254859 1964
542
[BENIGN FAMILIAL PEMPHIGUS OR HAILEY-HAILEY DISEASE]. 38
14254799 1964
543
[GOUGEROT-HAILEY-HAILEY DISEASE (PEMPHIGUS FAMILIARIS BENIGNUS CHRONICUS)]. 38
14207511 1964
544
[Investigations of familial benign chronic pemphigus Hailey--Haifey's by electron microscopy]. 38
5861059 1964
545
[BENIGN FAMILIAL CHRONIC PEMPHIGUS (HAILEY-HAILEY DISEASE)]. 38
14075005 1963
546
[Familial benign chronic pemphigus (Hailey-Hailey disease)]. 38
13972121 1962
547
[Familial benign chronic pemphigus]. 38
13892662 1962
548
[Hailey-Hailey disease (2 recent patients). Failure of vitamin A]. 38
13902468 1961
549
[Benign chronic familiar pemphigus (Hailey-Hailey disease)]. 38
13738753 1960
550
[On the relationship between bullous form of Darier's disease (dyskeratosis follicularis typ. bullosus) and Hailey-Hailey disease (pemphigus benignus chronicus familiaris)]. 38
14411416 1960
551
Specific systemic antibiotic therapy in familial benign chronic pemphigus. 38
14445788 1959
552
Grenz-ray treatment of familial benign chronic pemphigus. 38
14441748 1959
553
Familial benign chronic pemphigus. 38
14435605 1959
554
Atypical features in familial benign chronic pemphigus. 38
13582186 1958
555
Familial benign chronic pemphigus (Hailey-Hailey) in Negroes. 38
13410137 1957
556
[A case of Hailey-Hailey disease]. 38
13305252 1956
557
[Case of chronic benign familial pemphigus (Gougerot-Hailey-Hailey disease)]. 38
13241364 1955
558
[Case of Hailey-Hailey disease (pemphigus chronicus benignus familiaris)]. 38
13262974 1955
559
[Hailey-Hailey Disease]. 38
13214826 1954
560
[Chronic benign familial pemphigus (Hailey-Hailey disease); case report with special reference to the therapy]. 38
13200970 1954
561
Familial benign chronic pemphigus (Hailey-Hailey). 38
13196889 1954
562
Familial benign chronic pemphigus; report thirteen years after first observation of a new entity. 38
13076803 1953
563
Familial benign chronic pemphigus (Hailey and Hailey) treated with cortisone. 38
13079526 1953
564
[Hailey's disease (familial benign chronic pemphigus)]. 38
14863494 1951
565
[Senear-Usher's type of benign chronic pemphigus]. 38
14848853 1951
566
Treatment of familial benign chronic pemphigus (Hailey and Hailey syndrome); rapid healing with aureomycin. 38
14770494 1950
567
Sisters with familial benign chronic pemphigus (Gougerot, Hailey and Hailey). 38
15440776 1950
568
Familial Benign Chronic Pemphigus (Hailey-Hailey). 38
19993725 1950
569
[Familial benign chronic pemphigus (Hailey's disease)]. 38
15421035 1950
570
Familial benign chronic pemphigus (Hailey and Hailey disease). 38
18147171 1949
571
Case of familial benign chronic pemphigus. 38
18118477 1949
572
A case of familial benign chronic pemphigus. 38
18119943 1949
573
Familial benign chronic pemphigus; report of a case. 38
18932956 1948
574
Treatment of familial benign chronic pemphigus; rapid improvement with penicillin therapy. 38
18110536 1948
575
Familial benign chronic pemphigus (Hailey). 38
18100973 1948
576
Bullous dyskeratosis (familial benign chronic pemphigus). 38
20240703 1947
577
A case for diagnosis (familial benign chronic pemphigus; erythema annulare centrifugum?). 38
20341240 1946
578
Familial benign chronic pemphigus. 38
21015829 1946

Variations for Benign Chronic Pemphigus

ClinVar genetic disease variations for Benign Chronic Pemphigus:

6 (showing 48, show less)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ATP2C1 NM_001001486.1(ATP2C1): c.2371_2374TTGT[1] (p.Phe792fs) short repeat Pathogenic rs1057517706 3:130716581-130716584 3:130997737-130997740
2 ATP2C1 NM_001001486.1(ATP2C1): c.769_772dup (p.Leu258fs) duplication Pathogenic 3:130674960-130674963 3:130956116-130956119
3 ATP2C1 NM_001001486.1(ATP2C1): c.910G> A (p.Ala304Thr) single nucleotide variant Pathogenic rs137853012 3:130682825-130682825 3:130963981-130963981
4 ATP2C1 NM_001001486.1(ATP2C1): c.1402C> T (p.Arg468Ter) single nucleotide variant Pathogenic rs137853013 3:130688229-130688229 3:130969385-130969385
5 ATP2C1 NM_001001486.1(ATP2C1): c.900-1G> A single nucleotide variant Pathogenic 3:130682814-130682814 3:130963970-130963970
6 ATP2C1 NM_001001486.1(ATP2C1): c.1469G> T (p.Cys490Phe) single nucleotide variant Pathogenic rs137853014 3:130694231-130694231 3:130975387-130975387
7 ATP2C1 NM_001001486.1(ATP2C1): c.2460del (p.Met820fs) deletion Pathogenic 3:130717206-130717206 3:130998362-130998362
8 ATP2C1 NM_001001486.1(ATP2C1): c.1751T> C (p.Leu584Pro) single nucleotide variant Pathogenic rs137853015 3:130699435-130699435 3:130980591-130980591
9 ATP2C1 ATP2C1, IVS22, G-A, +1 single nucleotide variant Pathogenic
10 ATP2C1 NM_001001486.1(ATP2C1): c.-66C> T single nucleotide variant Uncertain significance rs886057979 3:130613548-130613548 3:130894704-130894704
11 ATP2C1 NM_001001486.1(ATP2C1): c.996G> A (p.Val332=) single nucleotide variant Uncertain significance rs886057982 3:130682911-130682911 3:130964067-130964067
12 ATP2C1 NM_001001486.1(ATP2C1): c.2754+133A> G single nucleotide variant Uncertain significance rs767826698 3:130720321-130720321 3:131001477-131001477
13 ATP2C1 NM_001001486.1(ATP2C1): c.-64A> G single nucleotide variant Uncertain significance rs886057980 3:130613550-130613550 3:130894706-130894706
14 ATP2C1 NM_001001486.1(ATP2C1): c.135T> C (p.Gly45=) single nucleotide variant Uncertain significance rs753216597 3:130650883-130650883 3:130932039-130932039
15 ATP2C1 NM_001001486.1(ATP2C1): c.532-6C> T single nucleotide variant Uncertain significance rs886057981 3:130672659-130672659 3:130953815-130953815
16 ATP2C1 NM_001001486.1(ATP2C1): c.2057+7T> A single nucleotide variant Uncertain significance rs368071107 3:130712949-130712949 3:130994105-130994105
17 ATP2C1 NM_001001486.1(ATP2C1): c.2694T> C (p.Val898=) single nucleotide variant Uncertain significance rs886057983 3:130720128-130720128 3:131001284-131001284
18 ATP2C1 NM_001001486.1(ATP2C1): c.2754+349T> A single nucleotide variant Uncertain significance rs777719092 3:130720537-130720537 3:131001693-131001693
19 ATP2C1 NM_001001486.1(ATP2C1): c.2754+1209del deletion Uncertain significance rs886057988 3:130721397-130721397 3:131002553-131002553
20 ATP2C1 NM_001001486.1(ATP2C1): c.2754+1210A> T single nucleotide variant Uncertain significance rs886057989 3:130721398-130721398 3:131002554-131002554
21 ATP2C1 NM_001001486.1(ATP2C1): c.2754+1220A> G single nucleotide variant Uncertain significance rs886057990 3:130721408-130721408 3:131002564-131002564
22 ATP2C1 NM_001001486.1(ATP2C1): c.2754+1570C> T single nucleotide variant Uncertain significance rs886057993 3:130721758-130721758 3:131002914-131002914
23 ATP2C1 NM_001001486.1(ATP2C1): c.-80_-79TC[1] short repeat Uncertain significance rs886057978 3:130613536-130613537 3:130894692-130894693
24 ATP2C1 NM_001001486.1(ATP2C1): c.2754+952T> G single nucleotide variant Uncertain significance rs886057987 3:130721140-130721140 3:131002296-131002296
25 ATP2C1 NM_001001486.1(ATP2C1): c.2754+1261G> A single nucleotide variant Uncertain significance rs886057991 3:130721449-130721449 3:131002605-131002605
26 ATP2C1 NM_001001486.1(ATP2C1): c.2754+1270T> C single nucleotide variant Uncertain significance rs886057992 3:130721458-130721458 3:131002614-131002614
27 ATP2C1 NM_001001486.1(ATP2C1): c.2754+1477T> A single nucleotide variant Uncertain significance rs878906207 3:130721665-130721665 3:131002821-131002821
28 ATP2C1 NM_001001486.1(ATP2C1): c.782G> A (p.Ser261Asn) single nucleotide variant Uncertain significance rs200665127 3:130674973-130674973 3:130956129-130956129
29 ATP2C1 NM_001001486.1(ATP2C1): c.1905C> A (p.Asn635Lys) single nucleotide variant Uncertain significance rs781604274 3:130712790-130712790 3:130993946-130993946
30 ATP2C1 NM_001001486.1(ATP2C1): c.2754+332_2754+335del short repeat Uncertain significance rs886057984 3:130720520-130720523 3:131001676-131001679
31 ATP2C1 NM_001001486.1(ATP2C1): c.2754+504_2754+508del short repeat Likely benign rs141448272 3:130720692-130720696 3:131001848-131001852
32 ATP2C1 NM_001001486.1(ATP2C1): c.2754+887A> G single nucleotide variant Likely benign rs181188000 3:130721075-130721075 3:131002231-131002231
33 ATP2C1 NM_001001486.1(ATP2C1): c.1348G> A (p.Ala450Thr) single nucleotide variant Likely benign rs41434650 3:130688175-130688175 3:130969331-130969331
34 ATP2C1 NM_001001486.1(ATP2C1): c.1840-12G> A single nucleotide variant Likely benign rs201666095 3:130711783-130711783 3:130992939-130992939
35 ATP2C1 NM_001001486.1(ATP2C1): c.2754+1845A> G single nucleotide variant Likely benign rs141516276 3:130722033-130722033 3:131003189-131003189
36 ATP2C1 NM_001001486.1(ATP2C1): c.117+7G> A single nucleotide variant Likely benign rs41266501 3:130649377-130649377 3:130930533-130930533
37 ATP2C1 NM_001001486.1(ATP2C1): c.531+10G> A single nucleotide variant Likely benign rs559826369 3:130660553-130660553 3:130941709-130941709
38 ATP2C1 NM_001001486.1(ATP2C1): c.1570+9A> G single nucleotide variant Likely benign rs199864073 3:130694341-130694341 3:130975497-130975497
39 ATP2C1 NM_001001486.1(ATP2C1): c.2754+356del deletion Likely benign rs200037424 3:130720544-130720544 3:131001700-131001700
40 ATP2C1 NM_001001486.1(ATP2C1): c.2754+692G> A single nucleotide variant Likely benign rs150024961 3:130720880-130720880 3:131002036-131002036
41 ATP2C1 NM_001001486.1(ATP2C1): c.2754+1004C> T single nucleotide variant Likely benign rs116671177 3:130721192-130721192 3:131002348-131002348
42 ATP2C1 NM_014382.4(ATP2C1): c.-213C> A single nucleotide variant Likely benign rs181664730 3:130613401-130613401 3:130894557-130894557
43 ATP2C1 NM_001001486.1(ATP2C1): c.1683C> T (p.Ala561=) single nucleotide variant Likely benign rs114319700 3:130698205-130698205 3:130979361-130979361
44 ATP2C1 NM_001001486.1(ATP2C1): c.585T> C (p.Cys195=) single nucleotide variant Likely benign rs2760272 3:130672718-130672718 3:130953874-130953874
45 ATP2C1 NM_001001486.1(ATP2C1): c.2598G> A (p.Lys866=) single nucleotide variant Benign rs16835513 3:130718472-130718472 3:130999628-130999628
46 ATP2C1 NM_001001486.1(ATP2C1): c.636G> A (p.Ser212=) single nucleotide variant Benign rs6810181 3:130672769-130672769 3:130953925-130953925
47 ATP2C1 NM_001001486.1(ATP2C1): c.6+15C> G single nucleotide variant Benign rs112703671 3:130613634-130613634 3:130894790-130894790
48 ATP2C1 NM_001001486.1(ATP2C1): c.2754+1826A> G single nucleotide variant Benign rs72628536 3:130722014-130722014 3:131003170-131003170

UniProtKB/Swiss-Prot genetic disease variations for Benign Chronic Pemphigus:

74 (showing 20, show less)
# Symbol AA change Variation ID SNP ID
1 ATP2C1 p.Ala304Thr VAR_008803 rs137853012
2 ATP2C1 p.Leu318Pro VAR_008804
3 ATP2C1 p.Met641Arg VAR_008805
4 ATP2C1 p.Gly645Arg VAR_008806
5 ATP2C1 p.Thr709Met VAR_008807 rs778865612
6 ATP2C1 p.Pro744Arg VAR_008808
7 ATP2C1 p.Pro201Leu VAR_010130
8 ATP2C1 p.Cys344Tyr VAR_010131
9 ATP2C1 p.Thr570Ile VAR_010132
10 ATP2C1 p.Cys490Phe VAR_019523 rs137853014
11 ATP2C1 p.Leu584Pro VAR_019524 rs137853015
12 ATP2C1 p.Gly309Cys VAR_022672
13 ATP2C1 p.Leu341Pro VAR_022673
14 ATP2C1 p.Cys411Arg VAR_022674
15 ATP2C1 p.Ile580Val VAR_022675 rs128223288
16 ATP2C1 p.Asp742Tyr VAR_022676
17 ATP2C1 p.Gly789Arg VAR_022677
18 ATP2C1 p.Gly220Glu VAR_079698
19 ATP2C1 p.Gly309Val VAR_079699 rs139357083
20 ATP2C1 p.Ala731Asp VAR_079702

Cosmic variations for Benign Chronic Pemphigus:

9 (showing 82, show less)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM10662 TP53 skin,neck,carcinoma,squamous cell carcinoma c.743G>A p.R248Q 17:7674220-7674220 20
2 COSM607136 TGFBR1 skin,neck,carcinoma,squamous cell carcinoma c.1247C>T p.S416F 9:99146601-99146601 20
3 COSM6962965 SMO skin,neck,carcinoma,squamous cell carcinoma c.1103C>T p.P368L 7:129206332-129206332 20
4 COSM6962990 RARA skin,neck,carcinoma,squamous cell carcinoma c.1384C>T p.P462S 17:40356221-40356221 20
5 COSM6962984 RAD52 skin,neck,carcinoma,squamous cell carcinoma c.439G>A p.V147M 12:927173-927173 20
6 COSM6962994 PTPRT skin,neck,carcinoma,squamous cell carcinoma c.1607C>T p.S536L 20:42352239-42352239 20
7 COSM6962992 PTPRT skin,neck,carcinoma,squamous cell carcinoma c.1619G>A p.G540E 20:42352227-42352227 20
8 COSM6962970 PTPRD skin,neck,carcinoma,squamous cell carcinoma c.1736G>A p.S579N 9:8504347-8504347 20
9 COSM456125 PTPRD skin,neck,carcinoma,squamous cell carcinoma c.5048C>T p.S1683F 9:8341168-8341168 20
10 COSM1700914 PTPRD skin,neck,carcinoma,squamous cell carcinoma c.1261C>T p.P421S 9:8518130-8518130 20
11 COSM6962989 PLCG2 skin,neck,carcinoma,squamous cell carcinoma c.115G>T p.E39* 16:81786104-81786104 20
12 COSM6962963 PIK3CG skin,neck,carcinoma,squamous cell carcinoma c.310G>A p.G104R 7:106867871-106867871 20
13 COSM6962964 PIK3CG skin,neck,carcinoma,squamous cell carcinoma c.3227G>A p.R1076K 7:106905305-106905305 20
14 COSM564 NRAS skin,neck,carcinoma,squamous cell carcinoma c.35G>A p.G12D 1:114716126-114716126 20
15 COSM6962996 NCOA3 skin,neck,carcinoma,squamous cell carcinoma c.979C>T p.H327Y 20:47634062-47634062 20
16 COSM4170532 MTOR skin,neck,carcinoma,squamous cell carcinoma c.3409G>A p.E1137K 1:11212464-11212464 20
17 COSM6962967 KMT2C skin,neck,carcinoma,squamous cell carcinoma c.11659C>T p.H3887Y 7:152158874-152158874 20
18 COSM6962983 KMT2A skin,neck,carcinoma,squamous cell carcinoma c.4377T>G p.C1459W 11:118488658-118488658 20
19 COSM498 HRAS skin,neck,carcinoma,squamous cell carcinoma c.182A>T p.Q61L 11:533874-533874 20
20 COSM6438927 HGF skin,neck,carcinoma,squamous cell carcinoma c.974C>T p.P325L 7:81729671-81729671 20
21 COSM6962960 FGFR3 skin,neck,carcinoma,squamous cell carcinoma c.2421A>G p.*807W 4:1807262-1807262 20
22 COSM6962980 FGFR2 skin,neck,carcinoma,squamous cell carcinoma c.2234C>T p.S745F 10:121483765-121483765 20
23 COSM6962962 EPHA7 skin,neck,carcinoma,squamous cell carcinoma c.2468G>A p.G823E 6:93254711-93254711 20
24 COSM5918388 EPHA5 skin,neck,carcinoma,squamous cell carcinoma c.2608G>A p.E870K 4:65348104-65348104 20
25 COSM6962957 EPHA3 skin,neck,carcinoma,squamous cell carcinoma c.632T>A p.M211K 3:89210338-89210338 20
26 COSM6946976 EPHA3 skin,neck,carcinoma,squamous cell carcinoma c.533G>A p.G178E 3:89210239-89210239 20
27 COSM6962956 CASP8 skin,neck,carcinoma,squamous cell carcinoma c.1382C>T p.T461I 2:201286485-201286485 20
28 COSM3713589 CASP8 skin,neck,carcinoma,squamous cell carcinoma c.1093C>T p.L365F 2:201285055-201285055 20
29 COSM21323 ATM skin,neck,carcinoma,squamous cell carcinoma c.1009C>T p.R337C 11:108247071-108247071 20
30 COSM6950941 APC skin,neck,carcinoma,squamous cell carcinoma c.536C>T p.S179F 5:112780794-112780794 20
31 COSM6962953 AKT3 skin,neck,carcinoma,squamous cell carcinoma c.1164-1G>A p.? 1:243545598-243545598 20
32 COSM6962993 skin,neck,carcinoma,squamous cell carcinoma c.1619G>A p.G540E 20:42352227-42352227 20
33 COSM99602 skin,neck,carcinoma,squamous cell carcinoma c.743G>A p.R248Q 17:7674220-7674220 20
34 COSM1640830 skin,neck,carcinoma,squamous cell carcinoma c.743G>A p.R248Q 17:7674220-7674220 20
35 COSM6962972 skin,neck,carcinoma,squamous cell carcinoma c.1727G>A p.S576N 9:8504347-8504347 20
36 COSM6962978 skin,neck,carcinoma,squamous cell carcinoma c.2237C>T p.S746F 10:121483765-121483765 20
37 COSM6962995 skin,neck,carcinoma,squamous cell carcinoma c.1607C>T p.S536L 20:42352239-42352239 20
38 COSM1350749 skin,neck,carcinoma,squamous cell carcinoma c.1009C>T p.R337C 11:108247071-108247071 20
39 COSM6962951 skin,neck,carcinoma,squamous cell carcinoma c.1164-1G>A p.? 1:243545598-243545598 20
40 COSM1700913 skin,neck,carcinoma,squamous cell carcinoma c.1261C>T p.P421S 9:8518130-8518130 20
41 COSM1700915 skin,neck,carcinoma,squamous cell carcinoma c.1252C>T p.P418S 9:8518130-8518130 20
42 COSM6962982 skin,neck,carcinoma,squamous cell carcinoma c.4377T>G p.C1459W 11:118488658-118488658 20
43 COSM6962950 skin,neck,carcinoma,squamous cell carcinoma c.430C>T p.P144S 1:77966737-77966737 20
44 COSM1700912 skin,neck,carcinoma,squamous cell carcinoma c.1261C>T p.P421S 9:8518130-8518130 20
45 COSM6962991 skin,neck,carcinoma,squamous cell carcinoma c.1369C>T p.P457S 17:40356221-40356221 20
46 COSM99020 skin,neck,carcinoma,squamous cell carcinoma c.743G>A p.R248Q 17:7674220-7674220 20
47 COSM99021 skin,neck,carcinoma,squamous cell carcinoma c.464G>A p.R155Q 17:7674220-7674220 20
48 COSM6962979 skin,neck,carcinoma,squamous cell carcinoma c.1967C>T p.S656F 10:121483765-121483765 20
49 COSM6962952 skin,neck,carcinoma,squamous cell carcinoma c.1164-1G>A p.? 1:243545598-243545598 20
50 COSM6962969 skin,neck,carcinoma,squamous cell carcinoma c.1736G>A p.S579N 9:8504347-8504347 20
51 COSM6962971 skin,neck,carcinoma,squamous cell carcinoma c.1706G>A p.S569N 9:8504347-8504347 20
52 COSM1490144 skin,neck,carcinoma,squamous cell carcinoma c.3830C>T p.S1277F 9:8341168-8341168 20
53 COSM6962959 skin,neck,carcinoma,squamous cell carcinoma c.2427A>G p.*809W 4:1807262-1807262 20
54 COSM6962981 skin,neck,carcinoma,squamous cell carcinoma c.2228C>T p.S743F 10:121483765-121483765 20
55 COSM6962966 skin,neck,carcinoma,squamous cell carcinoma c.11659C>T p.H3887Y 7:152158874-152158874 20
56 COSM6962977 skin,neck,carcinoma,squamous cell carcinoma c.2237C>T p.S746F 10:121483765-121483765 20
57 COSM4814673 skin,neck,carcinoma,squamous cell carcinoma c.3818C>T p.S1273F 9:8341168-8341168 20
58 COSM6962973 skin,neck,carcinoma,squamous cell carcinoma c.1736G>A p.S579N 9:8504347-8504347 20
59 COSM3713588 skin,neck,carcinoma,squamous cell carcinoma c.1093C>T p.L365F 2:201285055-201285055 20
60 COSM456126 skin,neck,carcinoma,squamous cell carcinoma c.3461C>T p.S1154F 9:8341168-8341168 20
61 COSM1490143 skin,neck,carcinoma,squamous cell carcinoma c.5048C>T p.S1683F 9:8341168-8341168 20
62 COSM6962961 skin,neck,carcinoma,squamous cell carcinoma c.2468G>A p.G823E 6:93254711-93254711 20
63 COSM6962954 skin,neck,carcinoma,squamous cell carcinoma c.1508C>T p.T503I 2:201286485-201286485 20
64 COSM3713587 skin,neck,carcinoma,squamous cell carcinoma c.1219C>T p.L407F 2:201285055-201285055 20
65 COSM3356964 skin,neck,carcinoma,squamous cell carcinoma c.743G>A p.R248Q 17:7674220-7674220 20
66 COSM6946977 skin,neck,carcinoma,squamous cell carcinoma c.533G>A p.G178E 3:89210239-89210239 20
67 COSM6962958 skin,neck,carcinoma,squamous cell carcinoma c.632T>A p.M211K 3:89210338-89210338 20
68 COSM4814672 skin,neck,carcinoma,squamous cell carcinoma c.3827C>T p.S1276F 9:8341168-8341168 20
69 COSM6962985 skin,neck,carcinoma,squamous cell carcinoma c.439G>A p.V147M 12:927173-927173 20
70 COSM1700916 skin,neck,carcinoma,squamous cell carcinoma c.1261C>T p.P421S 9:8518130-8518130 20
71 COSM6962955 skin,neck,carcinoma,squamous cell carcinoma c.1382C>T p.T461I 2:201286485-201286485 20
72 COSM6962988 skin,neck,carcinoma,squamous cell carcinoma c.115G>T p.E39* 16:81786104-81786104 20
73 COSM6962949 skin,neck,carcinoma,squamous cell carcinoma c.493C>T p.P165S 1:77966737-77966737 20
74 COSM6962968 skin,neck,carcinoma,squamous cell carcinoma c.1736G>A p.S579N 9:8504347-8504347 20
75 COSM6962974 skin,neck,carcinoma,squamous cell carcinoma c.1231C>T p.P411S 9:8518130-8518130 20
76 COSM6962948 skin,neck,carcinoma,squamous cell carcinoma c.430C>T p.P144S 1:77966737-77966737 20
77 COSM17468 PTCH1 skin,neck,carcinoma,NS c.584G>T p.R195M 9:95485685-95485685 15
78 COSM29053 PTCH1 skin,neck,carcinoma,NS c.833G>A p.W278* 9:95480502-95480502 15
79 COSM29072 PTCH1 skin,neck,carcinoma,NS c.1067+1G>A p.? 9:95479968-95479968 15
80 COSM14452 PTCH1 skin,neck,carcinoma,NS c.2321G>A p.G774E 9:95467355-95467355 15
81 COSM17483 PTCH1 skin,neck,carcinoma,NS c.1729-1G>T p.? 9:95469932-95469932 15
82 COSM516 KRAS skin,neck,carcinoma,NS c.34G>T p.G12C 12:25245351-25245351 15

Copy number variations for Benign Chronic Pemphigus from CNVD:

7 (showing 1, show less)
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 168337 3 129200000 133700000 Loss ATP2C1 Hailey-hailey disease

Expression for Benign Chronic Pemphigus

Search GEO for disease gene expression data for Benign Chronic Pemphigus.

Pathways for Benign Chronic Pemphigus

Pathways related to Benign Chronic Pemphigus according to GeneCards Suite gene sharing:

(showing 8, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.85 ATP9B ATP2C2 ATP2C1 ATP2A2 ATP13A5
2
Show member pathways
12.08 ATP9B ATP2C2 ATP2C1 ATP2A2 ATP13A5
3
Show member pathways
11.76 JUP DSP ATP2A2
4 11.52 JUP DSP CDH3
5
Show member pathways
11.52 ATP9B ATP2C2 ATP2C1 ATP2A2 ATP13A5
6 11.08 JUP DSP ATP2A2
7 11.03 JUP CDH3
8 10.87 JUP DSP

GO Terms for Benign Chronic Pemphigus

Cellular components related to Benign Chronic Pemphigus according to GeneCards Suite gene sharing:

(showing 7, show less)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.86 JUP DSP CDH3 ATP9B ATP2C2 ATP2C1
2 cornified envelope GO:0001533 9.4 JUP DSP
3 cytoplasmic side of plasma membrane GO:0009898 9.37 JUP ATP2C2
4 intercalated disc GO:0014704 9.32 JUP DSP
5 catenin complex GO:0016342 9.16 JUP CDH3
6 desmosome GO:0030057 8.96 JUP DSP
7 fascia adherens GO:0005916 8.62 JUP DSP

Biological processes related to Benign Chronic Pemphigus according to GeneCards Suite gene sharing:

(showing 16, show less)
# Name GO ID Score Top Affiliating Genes
1 keratinization GO:0031424 9.69 JUP DSP CDH3
2 cell-cell adhesion GO:0098609 9.67 JUP DSP CDH3
3 calcium ion transport GO:0006816 9.65 ATP2C2 ATP2C1 ATP2A2
4 calcium ion transmembrane transport GO:0070588 9.63 ATP2C2 ATP2C1 ATP2A2
5 proton transmembrane transport GO:1902600 9.58 ATP2C2 ATP2C1 ATP2A2
6 positive regulation of canonical Wnt signaling pathway GO:0090263 9.56 JUP CDH3
7 calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules GO:0016339 9.55 CDH3 ATP2C1
8 skin development GO:0043588 9.54 JUP DSP
9 epidermis development GO:0008544 9.54 DSP ATP2C1 ATP2A2
10 regulation of heart rate by cardiac conduction GO:0086091 9.52 JUP DSP
11 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.43 JUP DSP
12 adherens junction organization GO:0034332 9.33 JUP DSP CDH3
13 manganese ion transmembrane transport GO:0071421 9.32 ATP2C2 ATP2C1
14 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.26 JUP DSP
15 cellular calcium ion homeostasis GO:0006874 9.26 ATP2C2 ATP2C1 ATP2A2 ATP13A5
16 ATP hydrolysis coupled cation transmembrane transport GO:0099132 8.8 ATP2C2 ATP2C1 ATP2A2

Molecular functions related to Benign Chronic Pemphigus according to GeneCards Suite gene sharing:

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# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 9.91 CDH3 ATP9B ATP2C2 ATP2C1 ATP2A2 ATP13A5
2 ATP binding GO:0005524 9.72 ATP9B ATP2C2 ATP2C1 ATP2A2 ATP13A5
3 cell adhesion molecule binding GO:0050839 9.4 JUP DSP
4 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 9.26 JUP DSP
5 manganese-transporting ATPase activity GO:0015410 9.16 ATP2C2 ATP2C1
6 proton-exporting ATPase activity, phosphorylative mechanism GO:0008553 9.13 ATP2C2 ATP2C1 ATP2A2
7 hydrolase activity GO:0016787 9.07 ATP13A5
8 calcium-transporting ATPase activity GO:0005388 8.8 ATP2C2 ATP2C1 ATP2A2

Sources for Benign Chronic Pemphigus

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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