Erythrokeratodermia variabilis
General Information (adopted from Orphanet):
Synonyms, Signs: |
ERYTHROKERATODERMIA, PROGRESSIVE SYMMETRIC KERATOSIS PALMOPLANTARIS TRANSGREDIENS ET PROGREDIENS, INCLUDED ERYTHROKERATODERMIA VARIABILIS ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS GREITHER DISEASE, INCLUDED ERYTHROKERATODERMIA FIGURATA, CONGENITAL FAMILIAL, IN PLAQUES EKVP PSEK EKV Erythrokeratodermia variabilis, Mendes da Costa type |
Number of Symptoms | 33 |
OrphanetNr: | 317 |
OMIM Id: |
133200
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ICD-10: |
Q82.8 |
UMLs: |
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MeSH: |
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MedDRA: |
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Snomed: |
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Prevalence, inheritance and age of onset:
Prevalence: | > 200 cases [Orphanet] |
Inheritance: |
Autosomal dominant Autosomal recessive [Orphanet] |
Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
Parent Diseases: |
Erythrokeratoderma variabilis progressiva
-Rare genetic disease -Rare skin disease Inherited ichthyosis nonsyndromic form -Rare genetic disease -Rare skin disease |
Symptom Information:
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(HPO:0008734) | Decreased testicular size | Occasional [Orphanet] | 105 / 7739 | |||
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(HPO:0000252) | Microcephaly | Very frequent [Orphanet] | 832 / 7739 | |||
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(HPO:0000501) | Glaucoma | Frequent [Orphanet] | 180 / 7739 | |||
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(HPO:0000518) | Cataract | Frequent [Orphanet] | 454 / 7739 | |||
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(HPO:0000481) | Abnormality of the cornea | Occasional [Orphanet] | 124 / 7739 | |||
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(HPO:0000365) | Hearing impairment | Occasional [Orphanet] | 539 / 7739 | |||
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(HPO:0000411) | Protruding ear | Occasional [Orphanet] | 140 / 7739 | |||
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(HPO:0000819) | Diabetes mellitus | Frequent [Orphanet] | 131 / 7739 | |||
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(HPO:0008373) | Puberty and gonadal disorders | Frequent [Orphanet] | 156 / 7739 | |||
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(HPO:0004279) | Short palm | Occasional [Orphanet] | 323 / 7739 | |||
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(HPO:0001182) | Tapered finger | Occasional [Orphanet] | 93 / 7739 | |||
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(HPO:0004325) | Decreased body weight | Very frequent [Orphanet] | 492 / 7739 | |||
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(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0001596) | Alopecia | Frequent [Orphanet] | 162 / 7739 | |||
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(HPO:0000988) | Skin rash | Very frequent [Orphanet] | 98 / 7739 | |||
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(HPO:0007400) | Irregular hyperpigmentation | Frequent [Orphanet] | 72 / 7739 | |||
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(HPO:0011362) | Abnormal hair quantity | Occasional [Orphanet] | 92 / 7739 | |||
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(HPO:0005595) | Generalized hyperkeratosis | 14 / 7739 | ||||
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(HPO:0000962) | Hyperkeratosis | Very frequent [Orphanet] | 216 / 7739 | |||
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(HPO:0000958) | Dry skin | Frequent [Orphanet] | 152 / 7739 | |||
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(HPO:0000992) | Cutaneous photosensitivity | Very frequent [Orphanet] | 75 / 7739 | |||
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(HPO:0200037) | Skin vesicle | Very frequent [Orphanet] | 102 / 7739 | |||
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(HPO:0008069) | Neoplasm of the skin | Occasional [Orphanet] | 84 / 7739 | |||
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(HPO:0001595) | Abnormality of the hair | Frequent [Orphanet] | 89 / 7739 | |||
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(HPO:0010783) | Erythema | Very frequent [Orphanet] | 138 / 7739 | |||
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(HPO:0001597) | Abnormality of the nail | Occasional [Orphanet] | 115 / 7739 | |||
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(HPO:0005588) | Patchy palmoplantar keratoderma | 3 / 7739 | ||||
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(HPO:0030680) | Abnormality of cardiovascular system morphology | Occasional [Orphanet] | 355 / 7739 | |||
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(OMIM) | Localized symmetric fixed, yellow- or red-brown hyperkeratotic plaques (extensor surface of extremities, buttocks, and lateral trunk) | 3 / 7739 | ||||
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(MedDRA:10025421) | Macule | Very frequent [Orphanet] | 55 / 7739 | |||
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(HPO:0012758) | Neurodevelopmental delay | Occasional [Orphanet] | 949 / 7739 | |||
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(HPO:0030350) | Erythematous papule | Very frequent [Orphanet] | 123 / 7739 | |||
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(OMIM) | Transient, migratory sharply outlined erythema (in some patients) | 3 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
Description: (OMIM) |
The erythrokeratodermias are a clinically variable and genetically heterogeneous group of inherited disorders characterized by widespread erythematous plaques, stationary or migratory, associated with nonmigratory hyperkeratoses (summary by Ishida-Yamamoto et al., 1997). The condition is usually present at birth ... |
Clinical Description OMIM |
Mendes da Costa (1925) described this condition in a mother and daughter and assigned the designation erythrokeratodermia variabilis (EKV). The patients showed relatively fixed patches of hyperkeratosis and erythematous areas 'characterized by capriciously formed outlines, like the boundary ... |
Molecular genetics OMIM |
- Heterozygous Mutation in the GJB3 Gene Richard et al. (1998) identified mutations in the connexin gene GJB3 (603324.0001-603324.0003) as the cause of the migratory form of erythrokeratodermia variabilis (EKV) in 4 families. No mutation in ... |