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EPKHE
MCID: ERY061
MIFTS: 39

Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige (EPKHE)

Categories: Blood diseases, Genetic diseases, Immune diseases, Metabolic diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Erythroderma, Congenital, with Palmoplantar Keratoderma,...

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MalaCards integrated aliases for Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige:

Name: Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige 56 29 6 39 71
Sam Syndrome 56 58 73
Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper Ige 56 73
Severe Dermatitis, Multiple Allergies, and Metabolic Wasting Syndrome 56 73
Epkhe 56 73
Congenital Erythroderma-Hypotrichosis-Recurrent Infections-Multiple Food Allergies Syndrome 58
Severe Dermatitis-Multiple Allergies-Metabolic Wasting Syndrome 58
Dermatitis, Exfoliative 43

Characteristics:

Orphanet epidemiological data:

58
severe dermatitis-multiple allergies-metabolic wasting syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
heterozygous carriers exhibit palmoplantar hyperkeratosis (see )
death in early childhood has been reported in some presumed homozygotes
two families described (last curated november 2013)


HPO:

31
erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Skin diseases Immune diseases Blood diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare skin diseases
Rare allergic disease
Rare immunological diseases


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Summaries for Erythroderma, Congenital, with Palmoplantar Keratoderma,...

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UniProtKB/Swiss-Prot : 73 Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE: A syndrome characterized by severe dermatitis, multiple allergies and metabolic wasting. Clinical features include erythroderma, yellowish papules and plaques arranged at the periphery of the palms, along the fingers and over weight-bearing areas of the feet, skin erosions and scaling, and hypotrichosis. Additionally, patients manifest severe food allergies, elevated immunoglobulin E (IgE) levels and recurrent infections with marked metabolic wasting.

MalaCards based summary : Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige, also known as sam syndrome, is related to palmoplantar keratosis and hypotrichosis. An important gene associated with Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige is DSG1 (Desmoglein 1), and among its related pathways/superpathways are Apoptotic execution phase and Keratinization. The drugs Brodalumab and Dermatologic Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, t cells and brain, and related phenotypes are ventricular septal defect and pulmonic stenosis

More information from OMIM: 615508
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Related Diseases for Erythroderma, Congenital, with Palmoplantar Keratoderma,...

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Diseases related to Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 41)
# Related Disease Score Top Affiliating Genes
1 palmoplantar keratosis 29.5 DSP DSG1
2 hypotrichosis 29.4 DSG1-AS1 DSG1
3 exfoliative dermatitis 12.0
4 dermatitis, atopic 11.6
5 short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities 11.6
6 cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis 10.2
7 dermatitis 10.2
8 erythrokeratoderma ''en cocardes'' 10.2
9 rare genetic skin disease 10.2
10 diffuse palmoplantar keratoderma 9.9 DSP DSG1
11 striate palmoplantar keratoderma 9.9 DSP DSG1
12 subcorneal pustular dermatosis 9.9 DSP DSG1
13 cardiomyopathy, dilated, with woolly hair and keratoderma 9.9 DSP DSG1
14 paraneoplastic pemphigus 9.9 DSP DSG1
15 pemphigus 9.9 DSP DSG1
16 vesiculobullous skin disease 9.9 DSP DSG1
17 bullous skin disease 9.8 DSP DSG1
18 skin disease 9.8 DSP DSG1
19 palmoplantar keratoderma, nonepidermolytic 9.8 DSP DSG1
20 naxos disease 9.8 DSP DSG1
21 benign chronic pemphigus 9.8 DSP DSG1
22 erythrokeratodermia variabilis et progressiva 1 9.8
23 psoriasis 14, pustular 9.8
24 erythrokeratodermia variabilis et progressiva 5 9.8
25 synostosis 9.8
26 pustulosis of palm and sole 9.8
27 lung disease 9.8
28 psoriasis 9.8
29 bronchiectasis 9.8
30 hypereosinophilic syndrome 9.8
31 pustular psoriasis 9.8
32 darier-white disease 9.8 DSP DSG1
33 pemphigus vulgaris, familial 9.8 DSP DSG1
34 autoimmune disease of skin and connective tissue 9.8 DSP DSG1
35 pachyonychia congenita 1 9.8 DSP DSG1
36 familial woolly hair syndrome 9.7 DSP DSG1
37 cellulitis 9.7 DSP DSG1
38 castleman disease 9.7 DSP DSG1
39 hair disease 9.6 DSP DSG1
40 bullous pemphigoid 9.5 DSP DSG1
41 ectodermal dysplasia 9.4 DSP DSG1

Graphical network of the top 20 diseases related to Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige:



Diseases related to Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige
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Symptoms & Phenotypes for Erythroderma, Congenital, with Palmoplantar Keratoderma,...

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Human phenotypes related to Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 ventricular septal defect 31 occasional (7.5%) HP:0001629
2 pulmonic stenosis 31 occasional (7.5%) HP:0001642
3 recurrent respiratory infections 31 HP:0002205
4 psoriasiform dermatitis 31 HP:0003765
5 palmoplantar keratoderma 31 HP:0000982
6 growth delay 31 HP:0001510
7 erythroderma 31 HP:0001019
8 sparse hair 31 HP:0008070
9 acantholysis 31 HP:0100792
10 recurrent skin infections 31 HP:0001581
11 hypernatremia 31 HP:0003228
12 hypergranulosis 31 HP:0025114
13 orthokeratosis 31 HP:0040162

Symptoms via clinical synopsis from OMIM:

56
Respiratory:
recurrent respiratory infections

Skin Nails Hair Hair:
hypotrichosis

Growth Other:
growth retardation

Cardiovascular Vascular:
pulmonic stenosis, mild (in some patients)

Skin Nails Hair Skin Electron Microscopy:
uneven distribution of desmosomes in upper epidermis

Laboratory Abnormalities:
severe hypernatremia in neonatal period

Skin Nails Hair Skin Histology:
psoriasiform dermatitis
alternating parakeratosis and orthokeratosis
alternating hypogranulosis and hypergranulosis
widespread acantholysis within spinous and granular layers
subcorneal and intragranular separation

Skin Nails Hair Skin:
recurrent skin infections
scaling
erosions
erythroderma, generalized congenital
hyperkeratotic yellowish papules and plaques arranged linearly on palms and fingers
more
Cardiovascular Heart:
ventricular septal defect (in some patients)

Abdomen Gastrointestinal:
esophagitis, eosinophilic (in some patients)
esophageal reflux (in some patients)

Immunology:
markedly elevated ige levels
recurrent skin and respiratory infections

Clinical features from OMIM:

615508
Sources

Drugs & Therapeutics for Erythroderma, Congenital, with Palmoplantar Keratoderma,...

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Drugs for Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Brodalumab Approved, Investigational Phase 4 1174395-19-7
2 Dermatologic Agents Phase 4
3 Immunosuppressive Agents Phase 4
4 Immunologic Factors Phase 4
5
Infliximab Approved Phase 3 170277-31-3
6 Ixekizumab Approved, Investigational Phase 2 1143503-69-8
7 Interleukin-23 Phase 2
8 Immunoglobulins Phase 2
9 Antibodies Phase 2
10
Clotrimazole Approved, Vet_approved 23593-75-1 2812
11
Miconazole Approved, Investigational, Vet_approved 22916-47-8 4189
12 Immunoglobulins, Intravenous

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 An Extension Study of Brodalumab in Subjects With Plaque Psoriasis (Psoriasis Vulgaris, Psoriatic Arthritis), Pustular Psoriasis (Generalized) and Psoriatic Erythroderma Completed NCT04183881 Phase 4 Brodalumab 210mg SC
2 A Pilot Study of Alefacept for the Treatment of Pityriasis Rubra Pilaris. Terminated NCT00815633 Phase 4 Alefacept
3 An Extension Study of KHK4827 in Subjects With Plaque Psoriasis (Psoriasis Vulgaris, Psoriatic Arthritis), Pustular Psoriasis (Generalized) and Psoriatic Erythroderma Completed NCT02052609 Phase 3 KHK4827 140mg SC;KHK4827 210mg SC
4 A Clinical Study of Increased Dose of TA-650 in Patients With Psoriasis Completed NCT01680159 Phase 3 TA-650
5 Ixekizumab in the Treatment of Pityriasis Rubra Pilaris (PRP) Completed NCT03485976 Phase 2 Ixekizumab
6 An Open Label Pilot Trial of Guselkumab in the Treatment of Adults With Pityriasis Rubra Pilaris (PRP) Recruiting NCT03975153 Phase 2
7 A Multicenter Study With a Randomized, Double-Blind, Placebo-Controlled Period, Followed by an Open-Label Maintenance Dosing Period to Evaluate the Efficacy and Safety of Secukinumab in Patients With Ichthyoses Active, not recruiting NCT03041038 Phase 2 Secukinumab;Placebo
8 Cosentyx (Secukinumab) for the Treatment of Adult Onset Pityriasis Rubra Pilaris: A Single Arm, Open-label Exploratory Trial Enrolling by invitation NCT03342573 Phase 1 Cosentyx
9 Compare the Results for the Extended Myoectomy and Standard Morrow's Myoectomy in Patients With Ventricular Obstruction of the Left Ventricular Output Unknown status NCT02492399
10 Analysis of Killer Immunoglobulin-like Receptor Transcripts Expression for the Diagnosis of Epidermotropic Cutaneous T-cell Lymphomas (Mycosis Fungoid and Sézary Syndrome) in Patients With Erythroderma or Erythematous Patches/Plaques. Completed NCT00748319

Search NIH Clinical Center for Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige

Cochrane evidence based reviews: dermatitis, exfoliative

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Genetic Tests for Erythroderma, Congenital, with Palmoplantar Keratoderma,...

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Genetic tests related to Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige:

# Genetic test Affiliating Genes
1 Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige 29 DSG1
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Anatomical Context for Erythroderma, Congenital, with Palmoplantar Keratoderma,...

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MalaCards organs/tissues related to Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige:

40
Skin, T Cells, Brain
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Publications for Erythroderma, Congenital, with Palmoplantar Keratoderma,...

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Articles related to Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige:

(show all 16)
# Title Authors PMID Year
1
Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting. 6 56 61
23974871 2013
2
A DSG1 Frameshift Variant in a Rottweiler Dog with Footpad Hyperkeratosis. 61
32344723 2020
3
A case report of severe dermatitis, allergies, and metabolic wasting (SAM syndrome). 61
32126589 2020
4
The Role of Desmoglein 1 in Gap Junction Turnover Revealed through the Study of SAM Syndrome. 61
31465738 2020
5
Novel DSP Spectrin 6 Region Variant Causes Neonatal Erythroderma, Failure to Thrive, Severe Herpes Simplex Infections and Brain Lesions. 61
31037311 2019
6
Severe dermatitis, multiple allergies and metabolic wasting (SAM) syndrome caused by de novo mutation in the DSP gene misdiagnosed as generalized pustular psoriasis and treatment of acitretin with gabapentin. 61
31106887 2019
7
Sinobronchial allergic mycosis syndrome in an elderly male. 61
31171926 2019
8
SAM syndrome is characterized by extensive phenotypic heterogeneity. 61
29604126 2018
9
Compound heterozygosity for dominant and recessive DSG1 mutations in a patient with atypical SAM syndrome (severe dermatitis, multiple allergies, metabolic wasting). 61
27632246 2017
10
Report of Chinese family with severe dermatitis, multiple allergies and metabolic wasting syndrome caused by novel homozygous desmoglein-1 gene mutation. 61
27154412 2016
11
Whole-exome sequencing identifies novel autosomal recessive DSG1 mutations associated with mild SAM syndrome. 61
26288349 2016
12
[Homozygous desmoglein 1 gene mutations and severe dermatitis, multiple allergies and metabolic wasting (SAM syndrome)]. 61
26169895 2015
13
Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakin. 61
26073755 2015
14
Loss of desmoglein 1 associated with palmoplantar keratoderma, dermatitis and multiple allergies. 61
25041099 2015
15
Genetic skin diseases related to desmosomes and corneodesmosomes. 61
24636350 2014
16
Sinobronchial allergic mycosis: the SAM syndrome. 61
12006459 2002
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Variations for Erythroderma, Congenital, with Palmoplantar Keratoderma,...

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ClinVar genetic disease variations for Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DSG1 NM_001942.4(DSG1):c.49-1G>ASNV Pathogenic 88661 rs398122952 18:28906543-28906543 18:31326580-31326580
2 DSG1 NM_001942.4(DSG1):c.1861del (p.Ala621fs)deletion Pathogenic 88662 rs398122400 18:28923928-28923928 18:31343965-31343965
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Expression for Erythroderma, Congenital, with Palmoplantar Keratoderma,...

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Search GEO for disease gene expression data for Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige.
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Pathways for Erythroderma, Congenital, with Palmoplantar Keratoderma,...

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Pathways related to Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Apoptotic execution phase 65
Show member pathways
 11.62 DSP DSG1
2
Keratinization 65
Show member pathways
 11.08 DSP DSG1
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GO Terms for Erythroderma, Congenital, with Palmoplantar Keratoderma,...

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Cellular components related to Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell-cell junction GO:0005911 9.26 DSP DSG1
2 ficolin-1-rich granule membrane GO:0101003 9.16 DSP DSG1
3 cornified envelope GO:0001533 8.96 DSP DSG1
4 desmosome GO:0030057 8.62 DSP DSG1

Biological processes related to Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.26 DSP DSG1
2 keratinization GO:0031424 9.16 DSP DSG1
3 cell-cell adhesion GO:0098609 8.96 DSP DSG1
4 cornification GO:0070268 8.62 DSP DSG1
Sources

Sources for Erythroderma, Congenital, with Palmoplantar Keratoderma,...

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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