CYP4F22-Related Autosomal Recessive Congenital Ichthyosis Associated With Hirschsprung Disease and Bartter-Like Renal Manifestations

Abstract

Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of inherited cornification disorders caused by defects in epidermal barrier formation. Mutations in CYP4F22 are an uncommon cause of ARCI and are associated with variable phenotypes including lamellar ichthyosis (LI) and congenital ichthyosiform erythroderma (CIE). This is a report of a genetically confirmed case of CYP4F22-related ARCI in a child born to consanguineous parents who presented with collodion membrane at birth followed by persistent ichthyosiform scaling and palmoplantar keratoderma. Genetic analysis identified a homozygous pathogenic CYP4F22 variant, c.1303C>T p.(His435Tyr). In addition to cutaneous findings, the patient had Hirschsprung disease managed surgically during infancy and was followed by pediatric nephrology for Bartter-like manifestations associated with hypokalemia and bilateral renal stones. This case highlights the importance of recognizing phenotypic heterogeneity of CYP4F22-associated ARCI and describes unusual extracutaneous manifestations in association with this rare genodermatosis.