Porokeratosis of Mibelli
General Information (adopted from Orphanet):
| Synonyms, Signs: |
POROK1 POROKERATOSIS OF MIBELLI |
| Number of Symptoms | 13 |
| OrphanetNr: | 735 |
| OMIM Id: |
175800
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| ICD-10: |
Q82.8 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
80432009 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant Not applicable [Orphanet] |
| Age of onset: |
All ages [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic porokeratosis
-Rare genetic disease Porokeratosis -Rare skin disease |
Symptom Information:
|
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(HPO:0008065) | Aplasia/Hypoplasia of the skin | Very frequent [Orphanet] | 81 / 7739 | |||
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(HPO:0000962) | Hyperkeratosis | Very frequent [Orphanet] | 216 / 7739 | |||
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(HPO:0000992) | Cutaneous photosensitivity | Frequent [Orphanet] | 75 / 7739 | |||
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(HPO:0008069) | Neoplasm of the skin | Occasional [Orphanet] Frequent [HPO:probinson] | 84 / 7739 | |||
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(HPO:0200044) | Porokeratosis | 11 / 7739 | ||||
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(HPO:0000989) | Pruritus | Frequent [Orphanet] | 111 / 7739 | |||
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(HPO:0003220) | Abnormality of chromosome stability | 98 / 7739 | ||||
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(OMIM) | Keratoatrophoderma | 1 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(OMIM) | Frequent skin cancer | 1 / 7739 | ||||
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(OMIM) | Centrifugally spreading patches surrounded by narrow horny ridges with central atrophy | 1 / 7739 | ||||
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(HPO:0030350) | Erythematous papule | Very frequent [Orphanet] | 123 / 7739 | |||
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(HPO:0003596) | Middle age onset | 5 / 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 |
Bloom and Abramowitz (1943) described porokeratosis of Mibelli in an Italian man and his 2 sons. The grandfather was said to be affected. Examination of the father and sons showed that one had only annular lesions, and the ... |