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Peeling skin syndrome 1

Synonyms
KERATOLYSIS EXFOLIATIVA CONGENITA; Peeling skin syndrome type B; Peeling skin syndrome, inflammatory type B (subtype); Peeling skin syndrome, noninflammatory type A (subtype); SKIN PEELING, FAMILIAL CONTINUOUS GENERALIZED
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

A group of rare autosomal recessive forms of ichthyosis with clinical characteristics of superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. Presents with either an acral or a generalised distribution. [from SNOMEDCT_US]

Available tests

35 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (35 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: HTSS, HTSS1, HYPT2, PSS, PSS1, CDSN
    Summary: corneodesmosin

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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