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Novel insertion and a previously reported nonsense variant of ALOXE3 gene lead to autosomal recessive ichthyosis in two Balochi families

Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of rare disorders of skin's barrier function characterized by hyperkeratosis on most of the body along with variable degree of erythroderma (Akiyama et al. 2003). Non-syndromic forms of ARCI include lamellar ichthyosis (LI), harlequin ichthyosis (HI) and non-bollus congenital ichthyosiform erythroderma (NCIE) (Oji et al. 2010). This article is protected by copyright. All rights reserved.