Peeling skin syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
PSS Idiopathic deciduous skin Keratosis exfoliativa congenita Deciduous skin Familial continuous skin peeling syndrome Peeling skin disease |
| Number of Symptoms | 6 |
| OrphanetNr: | 817 |
| OMIM Id: |
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| ICD-10: |
Q80.8 |
| UMLs: |
C0406357 |
| MeSH: |
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| MedDRA: |
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| Snomed: |
238643009 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Inherited ichthyosis nonsyndromic form
-Rare genetic disease -Rare skin disease |
Symptom Information:
|
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(HPO:0001357) | Plagiocephaly | Frequent [Orphanet] | 106 / 7739 | |||
|
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(HPO:0002299) | Brittle hair | Frequent [Orphanet] | 52 / 7739 | |||
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(HPO:0200037) | Skin vesicle | Very frequent [Orphanet] | 102 / 7739 | |||
|
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(HPO:0000958) | Dry skin | Very frequent [Orphanet] | 152 / 7739 | |||
|
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(HPO:0000957) | Cafe-au-lait spot | Frequent [Orphanet] | 84 / 7739 | |||
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(HPO:0004337) | Abnormality of amino acid metabolism | Very frequent [Orphanet] | 45 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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