Autosomal recessive congenital ichthyosis due to novel CYP4F22 mutation presenting with a collodion membrane and ocular manifestations.

Autor: Swink SM; Section of Dermatology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Hurley M; Philadelphia College of Osteopathic Medicine, Philadelphia, Pennsylvania, USA., Haynes D; Division of Dermatology, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania, USA., Larijani M; Section of Dermatology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Jazyk: angličtina
Zdroj: Pediatric dermatology [Pediatr Dermatol] 2024 May-Jun; Vol. 41 (3), pp. 546-548. Date of Electronic Publication: 2024 Jan 09.
DOI: 10.1111/pde.15517
Abstrakt: Autosomal recessive congenital ichthyoses (ARCI) are a range of genetic disorders of keratinization. The rare CYP4F22 gene mutation can present with or without collodion membrane at birth and leads to the development of mild ichthyosis phenotype. We report a case of a novel pathogenic CYP4F22 genetic mutation presenting with collodion membrane and ocular manifestations. Ocular manifestations have recently been reported in a patient with ARCI with known CYP4F22 mutation, which further supports a possible correlation between the CYP4F22 mutation and this distinct phenotype.
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Databáze: MEDLINE
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