Nonbullous Congenital Ichthyosiform Erythroderma (CIE)
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Nonbullous congenital ichthyosiform erythroderma (CIE) is a clinical entity in the category of autosomal recessive congenital ichthyoses (ARCIs) . Other diagnoses that fall within this category include lamellar ichthyosis and harlequin ichthyosis . CIE is a rare condition with a prevalence of 1 in 100,000 to 200,000 individuals . Nonbullous CIE can be caused by several mutations including ALOX12B, ALOXE3,CERS3, CYP4F22, LIPN, NIPAL4/ICHTHYIN, PNPLA1, TGM1, and ABCA12 [1–3] all of which encode epidermal enzymes critical to the processing of lamellar bodies. Mutations in these enzymes lead to inefficient creation of the cornified envelope and thus an impaired epidermal barrier .
- 2.Takeichi T, Akiyama M. Inherited ichthyosis: non-syndromic forms. J Dermatol. 2016;43(3):242–51; PMID: 26945532.Google Scholar