Autosomal dominant palmoplantar keratoderma and congenital alopecia
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Palmoplantar keratoderma and congenital alopecia, Stevanovic type ppk-ca, stevanovic type Autosomal dominant palmoplantar hyperkeratosis and congenital alopecia |
| Number of Symptoms | 13 |
| OrphanetNr: | 1010 |
| OMIM Id: |
104100
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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: | 10 cases [Orphanet] |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature
-Rare genetic disease -Rare skin disease Ectodermal dysplasia syndrome -Rare developmental defect during embryogenesis -Rare genetic disease -Rare skin disease |
Symptom Information:
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(HPO:0000972) | Palmoplantar hyperkeratosis | 41 / 7739 | ||||
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(HPO:0002164) | Nail dysplasia | 82 / 7739 | ||||
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(HPO:0001006) | Hypotrichosis | Very frequent [Orphanet] | 219 / 7739 | |||
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(HPO:0008391) | Dystrophic fingernails | 6 / 7739 | ||||
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(HPO:0001805) | Thick nail | Frequent [Orphanet] | 96 / 7739 | |||
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(HPO:0000962) | Hyperkeratosis | Very frequent [Orphanet] | 216 / 7739 | |||
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(HPO:0001000) | Abnormality of skin pigmentation | very rare [HPO:skoehler] | 105 / 7739 | |||
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(HPO:0001596) | Alopecia | 162 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(OMIM) | Pigmentary changes on the shins (1 patient) | 1 / 7739 | ||||
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(OMIM) | Dystrophic nails, mild | 2 / 7739 | ||||
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(HPO:0003593) | Infantile onset | 249 / 7739 | ||||
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(OMIM) | Alopecia, congenital | 2 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Description: (OMIM) |
In a review of ectodermal dysplasia syndromes characterized by palmoplantar keratoderma (PPK) and congenital alopecia, Castori et al. (2010) suggested that there are 2 main types of unclassified syndromes that combine these 2 features. A more severe recessive ... |
| Clinical Description OMIM |
Stevanovic (1959) described a family with congenital alopecia, hyperkeratosis of the palms and soles, and mild dystrophic changes of the fingernails inherited in an autosomal dominant pattern. Basaran et al. (1995) reported a family in which ... |