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peeling skin syndrome 4

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any peeling skin syndrome in which the cause of the disease is a mutation in the CSTA gene.
Uniprot Description A genodermatosis characterized by congenital exfoliative ichthyosis, sharing some features with ichthyosis bullosa of Siemens and annular epidermolytic ichthyosis. PSS4 presents shortly after birth as dry, scaly skin over most of the body with coarse peeling of non-erythematous skin on the palms and soles, which is exacerbated by excessive moisture and minor trauma. Electron microscopy analysis of skin biopsies, reveals mostly normal-appearing upper layers of the epidermis, but prominent intercellular edema of the basal and suprabasal cell layers with aggregates of tonofilaments in the basal keratinocytes.
Mondo Term and Equivalent IDs
MONDO:0011937:  peeling skin syndrome 4
MESH:C564309: 
UMLS:C1842797: 
UMLS:C4225407: