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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'' 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:

MalaCards categories:
Global: Rare diseases
Anatomical: Skin diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare skin diseases


External Ids:

ICD10 via Orphanet 33 Q82.8
Orphanet 58 ORPHA315
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Summaries for Erythrokeratoderma ''en Cocardes''

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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 Anti-Infective 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 Köhlmeier-Degos disease or malignant atrophic papulosis, is an extremely... 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'':

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%)
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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 34)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Erythromycin Approved, Investigational, Vet_approved Phase 3 114-07-8 12560 441411
2 Anti-Infective Agents Phase 3
3 Erythromycin Estolate Phase 3
4 Erythromycin stearate Phase 3
5 Anti-Bacterial Agents Phase 3
6 Erythromycin Ethylsuccinate Phase 3
7 Gastrointestinal Agents Phase 3
8
Pimecrolimus Approved, Investigational Phase 1, Phase 2 137071-32-0 17753757 6447131
9
Adalimumab Approved Phase 2 331731-18-1 16219006
10
Valproic acid Approved, Investigational Phase 2 99-66-1 3121
11
Azacitidine Approved, Investigational Phase 2 320-67-2 9444
12
Acetylcholine Approved, Investigational Phase 2 51-84-3 187
13
Tretinoin Approved, Investigational, Nutraceutical Phase 2 302-79-4 444795 5538
14
Epigallocatechin Experimental, Investigational Phase 2 970-74-1 72277
15
Epigallocatechin gallate Investigational Phase 2 989-51-5 65064
16 Dermatologic Agents Phase 1, Phase 2
17 Analgesics, Non-Narcotic Phase 1, Phase 2
18 Immunologic Factors Phase 1, Phase 2
19 Analgesics Phase 1, Phase 2
20 Calcineurin Inhibitors Phase 1, Phase 2
21 Immunosuppressive Agents Phase 1, Phase 2
22 Antirheumatic Agents Phase 1, Phase 2
23 Anti-Inflammatory Agents Phase 1, Phase 2
24 Anti-Inflammatory Agents, Non-Steroidal Phase 1, Phase 2
25 Neurotransmitter Agents Phase 2
26 Histone Deacetylase Inhibitors Phase 2
27 Psychotropic Drugs Phase 2
28 Anticonvulsants Phase 2
29 Antimetabolites Phase 2
30 Keratolytic Agents Phase 2
31 abobotulinumtoxinA Phase 2
32 Cholinergic Agents Phase 2
33 Botulinum Toxins Phase 2
34 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'':

40
Skin, Lung, Colon, Kidney, T Cells, Eye, Bone
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Publications for Erythrokeratoderma ''en Cocardes''

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Articles related to Erythrokeratoderma ''en Cocardes'':

(show top 50) (show all 1747)
# Title Authors PMID Year
1
Pathogenesis of a variant in the 5' untranslated region of ADAR1 in dyschromatosis symmetrica hereditaria. 61
31926050 2020
2
Acquired Epidermodysplasia Verruciformis in the Setting of Renal Transplant. 61
32568838 2020
3
Claudin expression profile in flat wart and cutaneous squamous cell carcinoma in epidermodysplasia verruciformis. 61
32518268 2020
4
Pleiotropic Role of Notch Signaling in Human Skin Diseases. 61
32545758 2020
5
Scrotal Dowling-Degos disease caused by a novel frameshift variant in gamma-secretase subunit presenile enhancer gene. 61
32478413 2020
6
Ectodermal dysplasia-skin fragility syndrome: Two new cases and review of this desmosomal genodermatosis. 61
32248567 2020
7
[Juvenile dermatomyositis: A series of 22 cases]. 61
32532518 2020
8
Update in the Management of Basal Cell Carcinoma. 61
32346750 2020
9
Genetic analyses of mosaic neurofibromatosis type 1 with giant café-au-lait macule, plexiform neurofibroma and multiple melanocytic nevi. 61
32246533 2020
10
Epidermal keratin 5 expression and distribution is under dermal influence. 61
31692218 2020
11
Incidental Acantholysis in Hailey-Hailey Disease (Microscopic Nikolsky Sign): An Underappreciated Histologic Sign. 61
31584450 2020
12
Novel and recurrent variants of ATP2C1 identified in patients with Hailey-Hailey disease. 61
31983024 2020
13
What do we learn from dystrophic epidermolysis bullosa, nails only? Idiopathic nail dystrophy may harbor a COL7A1 mutation as the underlying cause. 61
32396230 2020
14
Discovery of heterozygous KRT10 alterations in MAUIE patients underlines the importance of regular skin cancer screening in ichthyosis with confetti-patients. 61
32407542 2020
15
Debilitating Darier's Disease and Its Impact on the Quality of Life. 61
32550053 2020
16
Degos disease: A radiological-pathological correlation of the neuroradiological aspects of the disease. 61
32505971 2020
17
Publications pattern of dermatology research in Saudi Arabia. 61
32373920 2020
18
[Paediatric social work and genodermatosis: Practices and specificities]. 61
32327196 2020
19
Degos disease in three patients with a common systemic involvement. 61
30375206 2020
20
Novel nicastrin mutation in hidradenitis suppurativa-Dowling-Degos disease clinical phenotype: more than just clinical overlap? 61
32282940 2020
21
Ichthyosis with confetti caused by new and recurrent mutations in KRT10 associated with varying degrees of keratin 10 mis-localization. 61
32113649 2020
22
Depressed indurated plaque with elastorrhexis as a distinctive lesion in Buschke-Ollendorff syndrome. 61
31943321 2020
23
Buschke-Ollendorff syndrome in a 6-year-old patient: clinical and histopathological aspects of a rare disease. 61
32206820 2020
24
Pathophysiology of pachyonychia congenita-associated palmoplantar keratoderma: new insights into skin epithelial homeostasis and avenues for treatment. 61
31021398 2020
25
Leiomyosarcoma in Birt-Hogg-Dubé Syndrome. 61
31929385 2020
26
Symptomatic mucosal involvement in pachyonychia congenita: challenges in infants and young children. 61
31777952 2020
27
Birt-Hogg-Dubé syndrome with simultaneous hyperplastic polyposis of the gastrointestinal tract: case report and review of the literature. 61
32171268 2020
28
A novel pathogenic FERMT1 variant in four families with Kindler syndrome in Argentina. 61
31957900 2020
29
Basosquamous carcinoma and melanoma collision tumor in a child with xeroderma pigmentosum. 61
31957124 2020
30
Identification of a novel DDB2 mutation in a Chinese Han family with Xeroderma pigmentosum group E:a case report and literature review. 61
32228487 2020
31
Incontinentia pigmenti in boys: Causes and consequences. 61
31982174 2020
32
Dyschromatosis Universalis Hereditaria with Hypospadias: A Rare Association. 61
32477990 2020
33
Homozygosity for a novel large deletion in SLC29A3 in a patient with H syndrome. 61
31867772 2020
34
Palmoplantar keratoderma, oral involvement, and homozygous CTSC mutation in two brothers from Cambodia. 61
31846207 2020
35
Enhanced cutaneous Rock2 expression as a marker of Rho Kinase pathway activation in autoimmune disease and Kohlemeier-Degos disease. 61
31778951 2020
36
Disseminated discoid lupus erythematosus mimicking Degos disease. 61
31429927 2020
37
Assessment of CAD-CAM polymers for digitally fabricated complete dentures. 61
32063383 2020
38
Fracture Resistance and Failure Mode of Custom-made Post-and-cores of Polyetheretherketone and Nano-ceramic Composite. 61
32101501 2020
39
Recessive mosaicism in ABCA12 causes blaschkoid congenital ichthyosiform erythroderma. 61
31206590 2020
40
Hereditary Leiomyomatosis and Renal Cell Cancer. 61
31663596 2020
41
Recalcitrant vulvar Hailey-Hailey disease treated with alitretinoin and onabotulinumtoxinA: A case report. 61
32110406 2020
42
Familial "benign" pemphigus? Erythroderma and fatal outcome. 61
31959512 2020
43
Human Mesenchymal Stromal Cells Engineered to Express Collagen VII Can Restore Anchoring Fibrils in Recessive Dystrophic Epidermolysis Bullosa Skin Graft Chimeras. 61
31326396 2020
44
SASH1 promotes melanin synthesis and migration via suppression of TGF-β1 secretion in melanocytes resulting in pathologic hyperpigmentation. 61
32174800 2020
45
Incontinentia pigmenti: multisistemic genodermatosis. 61
32496467 2020
46
[Incontinentia pigmenti. A descriptive study of experience in two different hospitals]. 61
31109788 2020
47
Beta HPV Type 15 Can Interfere With NF-κB Activity and Apoptosis in Human Keratinocytes. 61
32257968 2020
48
KID Syndrome: A Rare Genodermatosis. 61
32055527 2020
49
Juvenile dermatomyositis resembling late-stage Degos disease with gastrointestinal perforations successfully treated with combination of cyclophosphamide and rituximab: case-based review. 61
31900501 2020
50
Mutations in the CDSN gene cause peeling skin disease and hypotrichosis simplex of the scalp. 61
31663161 2020
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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 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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