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Article

Morphological alterations in two siblings with autosomal recessive congenital ichthyosis associated with CYP4F22 mutations.

The British journal of dermatology - 1 Apr 2017

Gruber R, Rainer G, Weiss A, Udvardi A, Thiele H, Eckl K M, Schupart R, Nürnberg P, Zschocke J, Schmuth M, Volc-Platzer B, Hennies H C

Abstract excerpt

Autosomal recessive congenital ichthyosis (ARCI) caused by mutations in CYP4F22 is very rare. CyP4F22, a protein of the cytochrome-P450 family 4, encodes an epidermal ω-hydroxylase decisive in the formation of acylceramides, which is hypothesized to be crucial for skin-barrier function. We report a girl with consanguineous parents presenting as collodion baby with contractures of the great joints and palmoplantar...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 27449533
DOI: 10.1111/bjd.14860

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