nonbullous congenital ichthyosiform erythroderma

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

单词	nonbullous congenital ichthyosiform erythroderma
释义	nonbullous congenital ichthyosiform erythroderma 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 AcronymsSeeNCIE
随便看	rmys rmysl rmz rmé /r/n r-n r.n. r/n rn rn1 rn3 rn7 rna rna 3' polyadenylation signals r/naa rnaa rnaac rnaaf rna and protein abundance database rna, antisense rnaap rnaapp rna arbitrarily primed-polymerase chain reaction rnaas rnaase