Lamellar ichthyosis caused by a previously unreported homozygous ALOXE3 mutation in East Asia.

Autosomal recessive congenital ichthyosis (ARCI) includes a wide range of ichthyosis phenotypes, including harlequin ichthyosis, lamellar ichthyosis (LI), congenital ichthyosiform erythroderma (CIE), and self-improving collodion ichthyosis (SICI) (1, 2). To date, 9 causative genes for ARCI have been identified (1, 2). ALOXE3 is a causative gene in LI as well as CIE, and it encodes the eLOX-3 lipoxygenase, which is predominantly synthesised in the epidermis. ARCI caused by an ALOXE3 mutation is very rare, with less than 30 families with the mutation reported in the literature. The previously reported cases with homozygous or compound heterozygous ALOXE3 mutations were from Europe, North Africa, the Middle East, and South Asia (3–8). Here, we describe an LI patient with a previously unreported homozygous ALOXE3 mutation in a consanguineous family from Japan and review ARCI cases with ALOXE3 mutations.