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MCID: ERY069
MIFTS: 30

Erythrokeratoderma ''en Cocardes''

Categories: Rare diseases, Skin diseases
Tissues Related diseases Publications Symptoms & Phenotypes Drugs
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Aliases & Classifications for Erythrokeratoderma ''en Cocardes''

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MalaCards integrated aliases for Erythrokeratoderma ''en Cocardes'':

Name: Erythrokeratoderma ''en Cocardes'' 53 59
Degos Genodermatosis "en Cocardes" 53 59
Degos 'en Cocarde' Erythrokeratoderma 53
Erythrokeratoderma "en Cocardes" 53
Erythrokeratoderma En Cocardes 53

Characteristics:

Orphanet epidemiological data:

59
erythrokeratoderma ''en cocardes''
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: normal life expectancy;

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Skin diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare skin diseases


External Ids:

ICD10 via Orphanet 34 Q82.8
Orphanet 59 ORPHA315
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Summaries for Erythrokeratoderma ''en Cocardes''

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NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 315DefinitionErythrokeratoderma 'en cocardes' is a rare genodermatosis characterised by circumscribed target-like (or 'en cocardes') erythematous hyperkeratotic lesions. These lesions, which remit and recur, affect the trunk and extremities and are accompanied by scaly plaques evocative of erythrokeratoderma variabilis (see this term). Onset usually occurs at birth or during early childhood. Only few cases have been described. Transmission is autosomal dominant.Visit the Orphanet disease page for more resources.

MalaCards based summary : Erythrokeratoderma ''en Cocardes'', also known as degos genodermatosis "en cocardes", is related to rare genetic skin disease and erythrokeratoderma. The drugs Erythromycin and Gastrointestinal Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, lung and colon, and related phenotypes are hyperkeratosis and papule

Wikipedia : 75 Degos disease, also known as KA?hlmeier-Degos disease or malignant atrophic papulosis (MAP), is an... more...

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Related Diseases for Erythrokeratoderma ''en Cocardes''

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Diseases related to Erythrokeratoderma ''en Cocardes'' via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 rare genetic skin disease 10.4
2 erythrokeratoderma 10.4

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Symptoms & Phenotypes for Erythrokeratoderma ''en Cocardes''

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Human phenotypes related to Erythrokeratoderma ''en Cocardes'':

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperkeratosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000962
2 papule 59 32 hallmark (90%) Very frequent (99-80%) HP:0200034
3 abnormality of skin pigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001000
4 neoplasm of the skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0008069
5 neoplasm 59 Occasional (29-5%)
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Drugs & Therapeutics for Erythrokeratoderma ''en Cocardes''

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Drugs for Erythrokeratoderma ''en Cocardes'' (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 46)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Erythromycin Approved, Investigational, Vet_approved Phase 3 114-07-8 441411 12560
2 Gastrointestinal Agents Phase 3
3 Anti-Bacterial Agents Phase 3
4 Erythromycin Ethylsuccinate Phase 3
5 Erythromycin stearate Phase 3
6 Erythromycin Estolate Phase 3
7 Anti-Infective Agents Phase 3
8
Tacrolimus Approved, Investigational Phase 1, Phase 2 104987-11-3 445643 439492 6473866
9
Pimecrolimus Approved, Investigational Phase 1, Phase 2 137071-32-0 17753757 6447131
10
Adalimumab Approved Phase 2 331731-18-1 16219006
11
Valproic acid Approved, Investigational Phase 2 99-66-1 3121
12
Azacitidine Approved, Investigational Phase 2 320-67-2 9444
13
Acetylcholine Approved, Investigational Phase 2 51-84-3 187
14
Tretinoin Approved, Investigational, Nutraceutical Phase 2 302-79-4 5538 444795
15
Epigallocatechin gallate Investigational Phase 2 989-51-5 65064
16
Epigallocatechin Experimental, Investigational Phase 2 970-74-1 72277
17 Dermatologic Agents Phase 1, Phase 2
18 Antioxidants Phase 2
19 Neuroprotective Agents Phase 2
20 Protective Agents Phase 2
21 Analgesics Phase 1, Phase 2
22 Anti-Inflammatory Agents Phase 1, Phase 2
23 Analgesics, Non-Narcotic Phase 1, Phase 2
24 Anti-Inflammatory Agents, Non-Steroidal Phase 1, Phase 2
25 Peripheral Nervous System Agents Phase 1, Phase 2
26 Immunologic Factors Phase 1, Phase 2
27 Immunosuppressive Agents Phase 1, Phase 2
28 Calcineurin Inhibitors Phase 1, Phase 2
29 Antirheumatic Agents Phase 1, Phase 2
30 Neurotransmitter Agents Phase 2
31 Tranquilizing Agents Phase 2
32 Psychotropic Drugs Phase 2
33 Central Nervous System Depressants Phase 2
34 GABA Agents Phase 2
35 Histone Deacetylase Inhibitors Phase 2
36 Keratolytic Agents Phase 2
37 Antimetabolites Phase 2
38 Antimanic Agents Phase 2
39 Anticonvulsants Phase 2
40 Antimetabolites, Antineoplastic Phase 2
41 abobotulinumtoxinA Phase 2
42 Cholinergic Agents Phase 2
43 Neuromuscular Agents Phase 2
44 Acetylcholine Release Inhibitors Phase 2
45 Botulinum Toxins Phase 2
46 Botulinum Toxins, Type A Phase 2

Interventional clinical trials:

(show all 12)
# Name Status NCT ID Phase Drugs
1 Treatment of Dowling Maera Type of Epidermolysis Bullosa Simplex by Oral Erythromycin Unknown status NCT01340235 Phase 3 Oral erythromycin
2 TREATMENT OF THE RECESSIVE NONBULLOUS CONGENITAL ICHTHYOSIS BY THE EPIGALLOCATECHINE CUTANEOUS Unknown status NCT01222000 Phase 3 apply VEREGEN ® 10 % on a randomized area and the moisturizing cream of the other side;apply VEREGEN ® 10 % on a randomized area and the moisturizing cream of the other side
3 Treatment of Epidermolysis Bullosa Dystrophica by Polyphenon E (Epigallocatechin 3 Gallate) Completed NCT00951964 Phase 2 Polyphenon E before Placebo;placebo before treatment
4 Exploratory Safety and Systemic Absorption of Elidel (Pimecrolimus) 1% Cream for the Treatment of Netherton Syndrome Completed NCT00208026 Phase 1, Phase 2 Pimecrolimus 1% Cream
5 Phase II Clinical Trial Using Humira in Netherton Syndrome Completed NCT02113904 Phase 2 Adalimumab
6 Multi Centers, Open-trial Phase II Study Evaluating 5-azacytidine (Vidaza®) + Valproic Acid (Depakine ®) Before Administration of Retinoic Acid (Vesanoid®) in Patients With Acute Myelogenous Leukemia and High Risk Myelodysplasia. Completed NCT00339196 Phase 2 5 azacytidine - VALPROIC acid- Retinoic acid
7 Randomized Pilot Study for the Treatment of Cutaneous Leiomyomas With Botulinum Toxin Completed NCT00971620 Phase 2
8 Phase 1/2 Clinical Trial for the Evaluation of Ingenol Mebutate for Actinic Cheilitis Withdrawn NCT03452566 Phase 1, Phase 2 Ingenol mebutate gel
9 Study of Inflammatory Mechanisms in Epidermolysis Bullosa Simplex- Dowling Meara Completed NCT01556308
10 Study of Epidermal Grafting Using the CelluTome Epidermal Harvesting System for the Treatment of Individual Lesions in Persons With Epidermolysis Bullosa [MT2015-36] Recruiting NCT02670837
11 Development of a Genetic Analysis Method by Mendeliomes and Genomes in the Diagnosis of Genodermatoses and Rare Genetic Diseases With Cutaneous Expression Recruiting NCT03873285
12 Bicentric, Open and Pilot Study Evaluating the Efficiency and the Tolerance of the Photodynamic Therapy in the Treatment of Epidermal Dysplasia for Patients Affected by Hereditary Dystrophic Epidermolysis Bullosa Withdrawn NCT02004600

Search NIH Clinical Center for Erythrokeratoderma ''en Cocardes''

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Genetic Tests for Erythrokeratoderma ''en Cocardes''

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Anatomical Context for Erythrokeratoderma ''en Cocardes''

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MalaCards organs/tissues related to Erythrokeratoderma ''en Cocardes'':

41
Skin, Lung, Colon, Kidney, T Cells, Bone, Eye
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Publications for Erythrokeratoderma ''en Cocardes''

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Articles related to Erythrokeratoderma ''en Cocardes'':

(show top 50) (show all 1678)
# Title Authors PMID Year
1
An overview of the genetic basis of epidermolysis bullosa in Brazil: discovery of novel and recurrent disease-causing variants. 38
31001817 2019
2
A novel mutation in MBTPS2 causes ichthyosis follicularis, alopecia, and photophobia syndrome. 38
31215178 2019
3
UV-sensitive syndrome: Whole exome sequencing identified a nonsense mutation in the gene UVSSA in two consanguineous pedigrees from Pakistan. 38
31421932 2019
4
Incontinentia pigmenti in adults. 38
31119873 2019
5
Disseminated discoid lupus erythematosus mimicking Degos disease. 38
31429927 2019
6
Assessment of the risk and characterization of non-melanoma skin cancer in Kindler syndrome: study of a series of 91 patients. 38
31340837 2019
7
Human mesenchymal stromal cells engineered to express collagen VII can restore anchoring fibrils in recessive dystrophic epidermolysis bullosa skin graft chimeras. 38
31326396 2019
8
Mast Cell Activation in Dowling-Degos disease. 38
31206596 2019
9
Classic dowling degos disease: a rare genodermatosis. 38
31195785 2019
10
Dramatic neurological debut in a case of Köhlmeier-Degos disease. 38
31183675 2019
11
Genetic and developmental disorders of the oral mucosa: Epidemiology; molecular mechanisms; diagnostic criteria; management. 38
31090139 2019
12
Recessive mosaicism in ABCA12 causes blaschkoid congenital ichthyosiform erythroderma. 38
31206590 2019
13
Dowling-Degos Disease and Hidradenitis Suppurativa. Epidemiological and Clinical Study of 15 Patients and Review of the Literature. 38
31120546 2019
14
Novel PTEN mutation in Cowden syndrome: case report with late diagnosis and non-malignant course. 38
31220904 2019
15
Use of low-dose naltrexone in the treatment of severe Hailey-Hailey disease: One case report. 38
30958613 2019
16
Variable response to low-dose naltrexone in patients with Darier disease: a case series. 38
30712317 2019
17
Incontinentia Pigmenti. 38
30660327 2019
18
[Incontinentia pigmenti. A descriptive study of experience in two different hospitals]. 38
31109788 2019
19
H Syndrome - A Case Report. 38
31149577 2019
20
Patent landscape of molecular and cellular targeted therapies for recessive dystrophic epidermolysis bullosa. 38
31017019 2019
21
Altered Notch Signaling in Dowling-Degos Disease: Additional Mutations in POGLUT1 and Further Insights into Disease Pathogenesis. 38
30414910 2019
22
[Cockayne Syndrome]. 38
30988227 2019
23
Full ablative versus fractional ablative laser therapy for Dowling-Degos disease. 38
30281812 2019
24
[Genetics and dermatology]. 38
31006539 2019
25
Pathophysiology of pachyonychia congenita-associated palmoplantar keratoderma: new insights into skin epithelial homeostasis and avenues for treatment. 38
31021398 2019
26
Hailey-Hailey-Like Pattern of Acantholysis on the Scalp Should Raise the Possibility of Incipient Pemphigus Vulgaris. 38
30640761 2019
27
Darier disease with disseminated herpes simplex virus type 2 infection. 38
31046908 2019
28
Congenital Hypopigmentary Disorders with Multiorgan Impairment: A Case Report and an Overview on Gray Hair Syndromes. 38
30934652 2019
29
A novel splice-site mutation in the ATP2C1 gene of a Chinese family with Hailey-Hailey disease. 38
30654607 2019
30
Hailey-Hailey disease: a diagnostic challenge. 38
31039223 2019
31
Bone marrow transplant with post-transplant cyclophosphamide for recessive dystrophic epidermolysis bullosa expands the related donor pool and permits tolerance of nonhaematopoietic cellular grafts. 38
30843184 2019
32
Multiple flat-topped scaly violaceous papules. 38
30982308 2019
33
Cellular signaling in pseudoxanthoma elasticum: an update. 38
30615970 2019
34
Unraveling incontinentia pigmenti: A comparison of phenotype and genotype variants. 38
30905793 2019
35
Hidradenitis suppurativa of the nape: Description of an atypical phenotype related to severe early-onset disease in men. 38
30561771 2019
36
Vesiculobullous Darier Disease Symptomatically Responsive to Cetirizine 38
30811151 2019
37
Kindlin-1 Regulates Epidermal Growth Factor Receptor Signaling. 38
30248333 2019
38
Dyschromatosis symmetrica hereditaria and reticulate acropigmentation of Kitamura: An update. 38
30692041 2019
39
Attenuation of Severe Generalized Junctional Epidermolysis Bullosa by Systemic Treatment with Gentamicin. 38
31132778 2019
40
A familial case of Dowling-Degos disease on the vulva. 38
30666695 2019
41
Treatment of Hailey-Hailey disease with narrowband phototherapy and acitretin: A case report. 38
31105943 2019
42
Hailey-Hailey disease successfully treated with vitamin D oral supplementation. 38
30291662 2019
43
A novel nonsense mutation in exon 9 in the extracellular matrix protein 1 gene associated with lipoid proteinosis: A case report. 38
31205714 2019
44
Multicystic Dysplastic Kidney and Incontinentia Pigmenti: Coexistence of 2 Rare Diseases. 38
30851721 2019
45
A new nonsense mutation in the POGLUT1 gene in two sisters with Dowling-Degos disease. 38
29569780 2018
46
Atypical presentation of Dowling-Degos disease with novel and recurrent mutations in POFUT1. 38
29797344 2018
47
A case of co-occurence of Dowling-Degos disease and psoriasis: association or a rarely-seen coincidence? 38
30518180 2018
48
Kohlmeier-Degos disease with constrictive pericarditis and atrial fibrillation. 38
29974345 2018
49
[Low-dose prophylactic oral isotretinoin treatment for 18 years in a patient with epidermodysplasia verruciformis and numerous squamous cell carcinomas]. 38
30250966 2018
50
Dowling-Degos Disease Localized on Vulva Mimicking Condyloma Acuminata. 38
30504986 2018
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Variations for Erythrokeratoderma ''en Cocardes''

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Expression for Erythrokeratoderma ''en Cocardes''

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Search GEO for disease gene expression data for Erythrokeratoderma ''en Cocardes''.
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Pathways for Erythrokeratoderma ''en Cocardes''

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GO Terms for Erythrokeratoderma ''en Cocardes''

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Sources for Erythrokeratoderma ''en Cocardes''

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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 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
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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