ichthyosis X-linked

ichthyosis X-linked

A keratinisation disorder (OMIM:308100) characterised by mild erythroderma and generalised exfoliation of the skin, which develops shortly after birth. Affected boys develop large, polygonal, dark brown scales, especially on the neck, extremities, trunk and buttocks.

Molecular pathology
Defects in STS on Xp22.32, which encodes steroid sulfatase (microsomal) isozymes, cause ichthyosis X-linked.