Porokeratosis plantaris palmaris et disseminata
General Information (adopted from Orphanet):
| Synonyms, Signs: |
POROKERATOSIS, PALMAR, PLANTAR, AND DISSEMINATED, 1 POROKERATOSIS, PALMAR, PLANTAR, AND DISSEMINATED POROK2 POROKERATOSIS PLANTARIS PALMARIS ET DISSEMINATA POROKERATOSIS PALMARIS ET PLANTARIS DISSEMINATA PPPD PPPD1 Palmar, plantar and disseminated porokeratosis |
| Number of Symptoms | 9 |
| OrphanetNr: | 737 |
| OMIM Id: |
175850
|
| ICD-10: |
Q82.8 |
| UMLs: |
|
| MeSH: |
|
| MedDRA: |
|
| Snomed: |
|
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant Autosomal recessive [Orphanet] |
| Age of onset: |
Adolescent Adult [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic porokeratosis
-Rare genetic disease Isolated punctate palmoplantar keratoderma -Rare genetic disease -Rare skin disease Porokeratosis -Rare skin disease |
Symptom Information:
|
|
(HPO:0100869) | Palmar telangiectasia | 3 / 7739 | ||||
|
|
(HPO:0008069) | Neoplasm of the skin | Occasional [Orphanet] | 84 / 7739 | |||
|
|
(HPO:0100870) | Plantar telangiectasia | 1 / 7739 | ||||
|
|
(HPO:0200044) | Porokeratosis | 11 / 7739 | ||||
|
|
(HPO:0008065) | Aplasia/Hypoplasia of the skin | Very frequent [Orphanet] | 81 / 7739 | |||
|
|
(HPO:0000962) | Hyperkeratosis | Very frequent [Orphanet] | 216 / 7739 | |||
|
|
(OMIM) | Porokeratosis of palms and soles | 1 / 7739 | ||||
|
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
|
|
(OMIM) | Annular or gyrate plaques with elevated borders | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Description: (OMIM) |
Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shapes, distribution, and clinical course (Schamroth ... |
| Clinical Description OMIM |
In 8 persons in 4 generations, Guss et al. (1971) described a form of porokeratosis distinct from both the Mibelli (175800) and disseminated superficial actinic (175900) types. The lesions appeared first on the palms and soles in the ... |