nonbullous congenital ichthyosiform erythroderma


Also found in: Acronyms.

non·bul·lous con·gen·i·tal ich·thy·o·si·form e·ryth·ro·der·ma

erythroderma or a collodion membrane at birth, usually without improvement during childhood, characterized by proliferation of epidermal keratinocytes with lipid accumulation; autosomal recessive inheritance.
An infant covered with thickened, taut, parchment paper-like skin that is cyclically shed as a manifestation of lamellar ichthyosis—an autosomal recessive condition [MIM 242300] seen in 75% of such babies; the tightened skin results in a flattened nose, ectropion, fixation of the lips into an O-shape, ‘cracking’ of brittle skin with respiratory effort; the scaling of the skin is most prominent in the flexures of extremities; hair may be absent or may penetrate the ‘parchment’
Prognosis Uncertain
Management High humidity