MCID: ERY069
MIFTS: 30

Erythrokeratoderma ''en Cocardes''

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Erythrokeratoderma ''en Cocardes''

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

Name: Erythrokeratoderma ''en Cocardes'' 52 58
Degos Genodermatosis "en Cocardes" 52 58
Degos 'en Cocarde' Erythrokeratoderma 52
Erythrokeratoderma "en Cocardes" 52
Erythrokeratoderma En Cocardes 52

Characteristics:

Orphanet epidemiological data:

58
erythrokeratoderma ''en cocardes''
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

ICD10 via Orphanet 33 Q82.8
Orphanet 58 ORPHA315

Summaries for Erythrokeratoderma ''en Cocardes''

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 315 Definition 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. 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 : 74 Degos disease, also known as Kohlmeier-Degos disease or malignant atrophic papulosis (MAP), is an... 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 rare genetic skin disease 10.4
2 erythrokeratoderma 10.4

Symptoms & Phenotypes for Erythrokeratoderma ''en Cocardes''

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

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperkeratosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000962
2 papule 58 31 hallmark (90%) Very frequent (99-80%) HP:0200034
3 abnormality of skin pigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001000
4 neoplasm of the skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0008069
5 neoplasm 58 Occasional (29-5%)

Drugs & Therapeutics for Erythrokeratoderma ''en Cocardes''

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

(show all 44)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Erythromycin Approved, Investigational, Vet_approved Phase 3 114-07-8 12560 441411
2 Gastrointestinal Agents Phase 3
3 Anti-Infective Agents Phase 3
4 Erythromycin Ethylsuccinate Phase 3
5 Erythromycin stearate Phase 3
6 Erythromycin Estolate Phase 3
7 Anti-Bacterial Agents Phase 3
8
Pimecrolimus Approved, Investigational Phase 1, Phase 2 137071-32-0 6447131 17753757
9
Tacrolimus Approved, Investigational Phase 1, Phase 2 104987-11-3 445643 439492 6473866
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 Experimental, Investigational Phase 2 970-74-1 72277
16
Epigallocatechin gallate Investigational Phase 2 989-51-5 65064
17 Dermatologic Agents Phase 1, Phase 2
18 Antioxidants Phase 2
19 Neuroprotective Agents Phase 2
20 Protective Agents Phase 2
21 Immunosuppressive Agents Phase 1, Phase 2
22 Anti-Inflammatory Agents Phase 1, Phase 2
23 Anti-Inflammatory Agents, Non-Steroidal Phase 1, Phase 2
24 Analgesics, Non-Narcotic Phase 1, Phase 2
25 Immunologic Factors Phase 1, Phase 2
26 Antirheumatic Agents Phase 1, Phase 2
27 Calcineurin Inhibitors Phase 1, Phase 2
28 Analgesics Phase 1, Phase 2
29 Central Nervous System Depressants Phase 2
30 Neurotransmitter Agents Phase 2
31 Keratolytic Agents Phase 2
32 Antimanic Agents Phase 2
33 Tranquilizing Agents Phase 2
34 GABA Agents Phase 2
35 Histone Deacetylase Inhibitors Phase 2
36 Psychotropic Drugs Phase 2
37 Anticonvulsants Phase 2
38 Antimetabolites Phase 2
39 Acetylcholine Release Inhibitors Phase 2
40 Neuromuscular Agents Phase 2
41 abobotulinumtoxinA Phase 2
42 Botulinum Toxins Phase 2
43 Cholinergic Agents Phase 2
44 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''

Genetic Tests for Erythrokeratoderma ''en Cocardes''

Anatomical Context for Erythrokeratoderma ''en Cocardes''

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

40
Skin, Lung, Colon, Kidney, T Cells, Eye, Bone

Publications for Erythrokeratoderma ''en Cocardes''

Articles related to Erythrokeratoderma ''en Cocardes'':

(show top 50) (show all 1719)
# Title Authors PMID Year
1
Palmoplantar keratoderma, oral involvement, and homozygous CTSC mutation in two brothers from Cambodia. 61
31846207 2020
2
Juvenile dermatomyositis resembling late-stage Degos disease with gastrointestinal perforations successfully treated with combination of cyclophosphamide and rituximab: case-based review. 61
31900501 2020
3
Targeted Inhibition of the Epidermal Growth Factor Receptor and Mammalian Target of Rapamycin Signaling Pathways in Olmsted Syndrome. 61
31895414 2020
4
Use of Epidermal Growth Factor Receptor Inhibitor Erlotinib to Treat Palmoplantar Keratoderma in Patients With Olmsted Syndrome Caused by TRPV3 Mutations. 61
31895432 2020
5
Mutations in the CDSN gene cause peeling skin disease and hypotrichosis simplex of the scalp. 61
31663161 2020
6
Human Mesenchymal Stromal Cells Engineered to Express Collagen VII Can Restore Anchoring Fibrils in Recessive Dystrophic Epidermolysis Bullosa Skin Graft Chimeras. 61
31326396 2020
7
A novel pathogenic FERMT1 variant in four families with Kindler syndrome in Argentina. 61
31957900 2020
8
Basosquamous carcinoma and melanoma collision tumor in a child with xeroderma pigmentosum. 61
31957124 2020
9
Incontinentia pigmenti in boys: Causes and consequences. 61
31982174 2020
10
[Incontinentia pigmenti. A descriptive study of experience in two different hospitals]. 61
31109788 2020
11
Leiomyosarcoma in Birt-Hogg-Dubé Syndrome. 61
31929385 2020
12
Pathogenesis of a variant in the 5' untranslated region of ADAR1 in dyschromatosis symmetrica hereditaria. 61
31926050 2020
13
Recessive mosaicism in ABCA12 causes blaschkoid congenital ichthyosiform erythroderma. 61
31206590 2020
14
Hereditary Leiomyomatosis and Renal Cell Cancer. 61
31663596 2020
15
Depressed indurated plaque with elastorrhexis as a distinctive lesion in Buschke-Ollendorff syndrome. 61
31943321 2020
16
Novel and recurrent variants of ATP2C1 identified in patients with Hailey-Hailey disease. 61
31983024 2020
17
Homozygosity for a novel large deletion in SLC29A3 in a patient with H syndrome. 61
31867772 2019
18
Plantar pain and thickened nails: a genodermatosis. 61
31836634 2019
19
Degos-Like Cutaneous Findings in an Adult Woman With NXP-2-Associated Dermatomyositis. 61
31876929 2019
20
Arginine- but not alanine-rich carboxy-termini trigger nuclear translocation of mutant keratin 10 in ichthyosis with confetti. 61
31638346 2019
21
Mast cell activation in Dowling-Degos disease. 61
31206596 2019
22
A familial case of Dowling-Degos disease on the vulva. 61
30666695 2019
23
A missense variant in the NSDHL gene in a Chihuahua with a congenital cornification disorder resembling inflammatory linear verrucous epidermal nevi. 61
31571289 2019
24
Darier Disease - A Clinical Illustration of Its High Variable Expressivity. 61
31938586 2019
25
Chronic pleuritis leading to severe pulmonary restriction: a rare complication of Degos disease. 61
31818897 2019
26
Phenotypic expansion of POFUT1 loss of function mutations in a disorder featuring segmental dyspigmentation with eczematous and folliculo-centric lesions. 61
31566882 2019
27
Bone marrow transplant with post-transplant cyclophosphamide for recessive dystrophic epidermolysis bullosa expands the related donor pool and permits tolerance of nonhaematopoietic cellular grafts. 61
30843184 2019
28
Morphological and morphometric analysis of cutaneous squamous cell carcinoma in patients with recessive dystrophic epidermolysis bullosa: a retrospective study. 61
31692111 2019
29
Extracellular Matrix Protein 1 Gene Mutation in Turkish Patients with Lipoid Proteinosis. 61
31896839 2019
30
Unraveling incontinentia pigmenti: A comparison of phenotype and genotype variants. 61
30905793 2019
31
Late-onset non-familial acrokeratosis verruciformis of Hopf: a case report. 61
31696902 2019
32
Familial "benign" pemphigus? Erythroderma and fatal outcome. 61
31959512 2019
33
Symptomatic mucosal involvement in pachyonychia congenita: challenges in infants and young children. 61
31777952 2019
34
Epidermal keratin 5 expression and distribution is under dermal influence. 61
31692218 2019
35
A case of hidradenitis suppurativa linked to trisomy 1q. 61
31535764 2019
36
Dramatic neurological debut in a case of Köhlmeier-Degos disease. 61
31183675 2019
37
Enhanced cutaneous Rock2 expression as a marker of Rho Kinase pathway activation in autoimmune disease and Kohlemeier-Degos disease. 61
31778951 2019
38
Dowling-Degos Disease - A Novel Presentation of An Uncommon Disease. 61
31544084 2019
39
Dowling-Degos Disease and Hidradenitis Suppurativa. Epidemiological and Clinical Study of 15 Patients and Review of the Literature. 61
31120546 2019
40
Darier's Disease: Report of a Case with Facial Involvement. 61
31911771 2019
41
Darier disease: first molecular study of a Portuguese family. 61
31687605 2019
42
[Main methodological approaches to the identification and diagnosis of monogenic hereditary diseases and problems in the organization of medical care and unified preventive programs]. 61
31765538 2019
43
Incidental Acantholysis in Hailey-Hailey Disease (Microscopic Nikolsky Sign): An Underappreciated Histologic Sign. 61
31584450 2019
44
Michelin Tire Baby Syndrome: A Rare Case with Review of Literature. 61
31696012 2019
45
UV-sensitive syndrome: Whole exome sequencing identified a nonsense mutation in the gene UVSSA in two consanguineous pedigrees from Pakistan. 61
31421932 2019
46
The color of skin: white diseases of the skin, nails, and mucosa. 61
31896410 2019
47
An overview of the genetic basis of epidermolysis bullosa in Brazil: discovery of novel and recurrent disease-causing variants. 61
31001817 2019
48
A novel mutation in MBTPS2 causes ichthyosis follicularis, alopecia, and photophobia syndrome. 61
31215178 2019
49
Atypical Disseminated Variant of Galli-Galli Disease: A Review of the Literature. 61
31449063 2019
50
Disseminated discoid lupus erythematosus mimicking Degos disease. 61
31429927 2019

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''

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
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