Deficient stratum corneum intercellular lipid in a Japanese patient with lamellar ichthyosis by a homozygous deletion mutation in SDR9C7

Abstract

Autosomal recessive congenital ichthyosis (ARCI) is an umbrella term for inherited non-syndromic ichthyosis, which includes harlequin ichthyosis, lamellar ichthyosis (LI), congenital ichthyosiform erythroderma and pleomorphic ichthyosis (also called self-healing/self-improving collodion baby).¹ The clinical diversity is matched by genetic heterogeneity, with 11 genes currently implicated in the pathobiology of ARCI,^2,3 including the most recent discovery of two missense mutations in SDR9C7 in three consanguineous Lebanese families.⁴ Here, we describe a case of ARCI (LI phenotype) that has a previously unreported homozygous deletion mutation in SDR9C7. We extend the spectrum of clinical features associated with SDR9C7 mutations, and identify deficient intercellular lipid and malformation of intercellular lipid layers in the stratum corneum.

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