Novel compound heterozygous nonsense and missense ABCA12 mutations lead to nonbullous congenital ichthyosiform erythroderma

Conflicts of interest: none declared. Sir, Nonbullous congenital ichthyosiform erythroderma (NBCIE) is a major type of autosomal recessive congenital ichthyosis showing generalized severe scaling and erythroderma without blister formation. In the classic NBCIE phenotype, the entire body is covered in fine, white scales over a background of erythrodermic skin.1 Mutations in ABCA12 are known to underlie harlequin ichthyosis (HI)2 and lamellar ichthyosis (LI).3 ABCA12 is a member of a large superfamily of ATP‐binding cassette (ABC) transporters, which bind and hydrolyze ATP to transport various molecules across a limiting membrane or into a vesicle.4 The ABCA subfamily members are all thought to be lipid transporters.5 Lack of ABCA12 function subsequently leads to disruption of lamellar granule lipid transport in the upper keratinizing epidermal keratinocytes resulting in malformation of the stratum corneum intercellular lipid layers.2 Here we report that a compound heterozygote harbouring two novel ABCA12 mutations, c.3407G>A (p.Gly1136Asp) and c.5005C>T (p.Gln1669X), exhibited a typical NBCIE phenotype.