Punctate palmoplantar keratoderma type 2
General Information (adopted from Orphanet):
| Synonyms, Signs: |
POROKERATOSIS PUNCTATA PALMARIS ET PLANTARIS PPPP PPKP2 Punctate palmoplantar hyperkeratosis type 2 |
| Number of Symptoms | 3 |
| OrphanetNr: | 79502 |
| OMIM Id: |
175860
|
| ICD-10: |
Q82.8 |
| UMLs: |
C1867982 |
| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Isolated punctate palmoplantar keratoderma
-Rare genetic disease -Rare skin disease |
Symptom Information:
|
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(HPO:0007613) | Spinous keratoses of palms and soles | 1 / 7739 | ||||
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(HPO:0200044) | Porokeratosis | 11 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
This condition was first described by Brown (1971) as punctate keratoderma. Schiff and Hughes (1974) described a family in which many members, both male and female, had palmoplantar lesions that became manifest at or around puberty. ... |