MCID: ERY069
MIFTS: 26

Erythrokeratoderma ''en Cocardes''

Categories: Rare diseases, Skin diseases
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Aliases & Classifications for Erythrokeratoderma ''en Cocardes''

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

Name: Erythrokeratoderma ''en Cocardes'' 19 58
Degos Genodermatosis "en Cocardes" 19 58
Erythrokeratoderma En Cocardes 19 75
Degos 'en Cocarde' Erythrokeratoderma 19
Erythrokeratoderma "en Cocardes" 19

Characteristics:


Inheritance:

Autosomal dominant 58

Age Of Onset:

Childhood 58

Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

ICD10 via Orphanet 32 Q82.8
Orphanet 58 ORPHA315

Summaries for Erythrokeratoderma ''en Cocardes''

GARD: 19 A rare, genetic, epidermal disorder characterized by intermittent (remitting and recurring), annular, polycyclic, target-like (or 'en cocardes') plaques with concentric rings of scaling erythema occurring on the extremities, flexural areas, and trunk. Concurrent erythrokeratoderma variabilis-like scaly plaques are commonly found in other parts of the body.

MalaCards based summary: Erythrokeratoderma ''en Cocardes'', also known as degos genodermatosis "en cocardes", is related to skin disease and rare genetic skin disease. Affiliated tissues include skin, small intestine and lung, and related phenotypes are hyperkeratosis and neoplasm of the skin

Orphanet: 58 A rare, genetic, epidermal disorder characterized by intermittent (remitting and recurring), annular, polycyclic, target-like (or 'en cocardes') plaques with concentric rings of scaling erythema occurring on the extremities, flexural areas, and trunk. Concurrent erythrokeratoderma variabilis-like scaly plaques are commonly found in other parts of the body.

Wikipedia: 75 Degos disease, also known as Köhlmeier-Degos disease or malignant atrophic papulosis, is an extremely... more...

Related Diseases for Erythrokeratoderma ''en Cocardes''

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

# Related Disease Score Top Affiliating Genes
1 skin disease 10.3
2 rare genetic skin disease 10.3
3 erythrokeratoderma 10.3

Symptoms & Phenotypes for Erythrokeratoderma ''en Cocardes''

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

58 30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperkeratosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000962
2 neoplasm of the skin 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008069
3 papule 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0200034
4 abnormality of skin pigmentation 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001000
5 neoplasm 58 Occasional (29-5%)

Drugs & Therapeutics for Erythrokeratoderma ''en Cocardes''

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

Genetic Tests for Erythrokeratoderma ''en Cocardes''

Anatomical Context for Erythrokeratoderma ''en Cocardes''

Organs/tissues related to Erythrokeratoderma ''en Cocardes'':

MalaCards : Skin, Small Intestine, Lung, Cervix, Lymph Node, Kidney, Colon

Publications for Erythrokeratoderma ''en Cocardes''

Articles related to Erythrokeratoderma ''en Cocardes'':

(show top 50) (show all 2091)
# Title Authors PMID Year
1
Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol basal cell carcinoma susceptibility syndrome. 62
35986704 2022
2
Disseminierte papulöse Variante des Morbus Dowling-Degos: Histopathologische Merkmale bei POGLUT1-Mutation. 62
36383961 2022
3
Atrophic papulosis (Köhlmeier-Degos disease) revisited: a cross-sectional study on 105 patients. 62
35610757 2022
4
Inflammation and thrombo-occlusive vessel signalling in benign atrophic papulosis (Köhlmeier-Degos disease). 62
35748122 2022
5
Disseminated papular variant of Dowling-Degos disease: Histopathological features in POGLUT1 mutation. 62
36314591 2022
6
Degos disease in a child presenting with acute renal failure. 62
36443642 2022
7
Current challenges of genodermatosis in a limited-resource country: An Indonesian perspective. 62
36331132 2022
8
Targeted NGS in Diagnostics of Genodermatosis Characterized by the Epidermolysis Bullosa Symptom Complex in 268 Russian Children. 62
36430820 2022
9
Renal involvement in H syndrome, a rare cause of diabetes mellitus: Case report. 62
36372920 2022
10
Long-term safety and efficacy of gene-corrected autologous keratinocyte grafts for recessive dystrophic epidermolysis bullosa. 62
36253825 2022
11
Lipoid proteinosis: A systematic presentation of an unusual disease. 62
35176194 2022
12
Surgical management and oncological follow-up of cutaneous squamous cell carcinomas arising in epidermolysis bullosa patients. 62
35315931 2022
13
Progressive cribriform and zosteriform hyperpigmentation: a histologic mimicker of Dowling-Degos disease? 62
36457684 2022
14
Conradi-Hünermann-Happle syndrome: Clinical and trichoscopic findings. 62
36263758 2022
15
Progression and flaring of focal dermal hypoplasia during an acute illness. 62
36126868 2022
16
Hereditary fibrosing poikiloderma (POIKTMP syndrome) report of a new mutation and review of the literature. 62
36102338 2022
17
Pure lumbar foraminal cavernous malformation in a patient with Cowden syndrome-a case report. 62
36285093 2022
18
Porokeratosis is one of the most common genodermatoses and is associated with an increased risk of keratinocyte cancer and melanoma. 62
36152004 2022
19
Current developments in gene therapy for epidermolysis bullosa. 62
35235467 2022
20
Interrogation of RDEB Epidermal Allografts after BMT Reveals Coexpression of Collagen VII and Keratin 15 with Proinflammatory Immune Cells and Fibroblasts. 62
35304249 2022
21
Ankle Swelling in Patients With Type 1 Neurofibromatosis: A Report of Two Cases With Rare Presentation of Common Genodermatosis. 62
36237736 2022
22
Atopic Dermatitis-like Genodermatosis: Disease Diagnosis and Management. 62
36140582 2022
23
Sequential treatments of Hailey-Hailey disease with photodynamic therapy, botulinum toxin type A and dapsone: A case report. 62
36124888 2022
24
Characterization of Amino Acid Substitutions and Deletions in Kindlin-1 FERM Domain: Relevance for Precision Medicine. 62
35189150 2022
25
Inheritance of Monogenic Hereditary Skin Disease and Related Canine Breeds. 62
36006348 2022
26
Focal Dermal Hypoplasia (Goltz Syndrome): A Case Report Showing a Wide Variety of Systemic and Oral Manifestations. 62
35948332 2022
27
Condyloma and coincidental epidermodysplasia verruciformis acanthoma positive for human papillomavirus-14 and -21. 62
36039682 2022
28
A case report of Dowling-Degos disease caused by POFUT1 exon deletion with possible coexistent CARD14 mutation-related psoriasis. 62
35340079 2022
29
Nutritional impairment of neonates with epidermolysis bullosa: a retrospective study. 62
35389041 2022
30
Revertant Mosaicism in Genodermatoses: Natural Gene Therapy Right before Your Eyes. 62
36140224 2022
31
Acquired Dermal Macular Hyperpigmentation Mimicking Dowling Degos Disease: A Case Report. 62
36148207 2022
32
Exploring the pathophysiologic basis of constrictive pericarditis of Kohlmeier Degos disease: A case series and review of the literature. 62
35588602 2022
33
A Particular Bicentric Structure in Dermoscopic Demonstration of Degos Disease. 62
36159151 2022
34
X-linked recessive ichthyosis in 8 Tunisian patients: awareness of misdiagnosis due to the technical trap of the STS pseudogene. 62
35883075 2022
35
Unusual facial lesions in H syndrome. 62
35865784 2022
36
Efficacy and Safety of Oral Green Tea Preparations in Skin Ailments: A Systematic Review of Clinical Studies. 62
35956325 2022
37
Dermoscopy of Erythrokeratoderma Variabilis. 62
36262565 2022
38
A case of Rothmund-Thomson syndrome originally thought to be a case of Bloom syndrome. 62
35781852 2022
39
Eosinophilic homogeneous intracytoplasmic inclusion bodies: Unique viral cytopathic changes associated with epidermodysplasia verruciformis and human papillomavirus type 49. 62
35262953 2022
40
The potential role for phage therapy for genetic modification of cutaneous diseases. 62
35181409 2022
41
Huriez syndrome: Additional pathogenic variants supporting allelism to SMARCAD syndrome. 62
35212137 2022
42
Whole-transcriptome sequencing identifies postzygotic ATP2A2 mutations in a patient misdiagnosed with herpes zoster, confirming the diagnosis of very late-onset segmental Darier disease. 62
35246884 2022
43
Two novel mutations in the ATP2C1 gene found in Japanese patients with Hailey-Hailey disease. 62
35274376 2022
44
Transcultural Validation of a Spanish Version of the Quality of Life in Epidermolysis Bullosa Questionnaire. 62
35742308 2022
45
Cardiac features in a patient with erythrokeratodermia cardiomyopathy syndrome. 62
34629121 2022
46
Incontinentia pigmenti inherited from a father with a low level atypical IKBKG deletion mosaicism: a case report. 62
35768795 2022
47
Diffused Degos disease treated with rivaroxaban. 62
35707869 2022
48
Follicular Dowling-Degos Disease Camouflaged as Comedones: A Case Report and Literature Review. 62
35865417 2022
49
The impact of epidermolysis bullosa on the family and healthcare practitioners: a scoping review. 62
35524482 2022
50
Obstinate leg ulceration secondary to prolidase deficiency, treated with 5% topical proline. 62
35106785 2022

Variations for Erythrokeratoderma ''en Cocardes''

Expression for Erythrokeratoderma ''en Cocardes''

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

Pathways for Erythrokeratoderma ''en Cocardes''

GO Terms for Erythrokeratoderma ''en Cocardes''

Sources for Erythrokeratoderma ''en Cocardes''

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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