Autosomal recessive congenital ichthyosis caused by a novel variant in cornifelin gene: A case report

Ichthyoses are genetically determined monogenic (Mendelian) disorders of cornification in which abnormal differentiation and desquamation of the epidermis result in a defective cutaneous barrier.1 It represents a clinically and etiologically heterogeneous group of conditions. The most common forms of ichthyosis are autosomal dominant ichthyosis vulgaris and X-linked recessive steroid sulfatase-related ichthyosis, both of which are nonsyndromic ichthyoses.3 Nonsyndromic ichthyoses are limited to skin symptoms, whereas syndromic forms are classified according to the additional symptoms.