Genetics of lamellar ichthyosis

Abstract

Ichthyosis is a dermatological condition that causes the skin in a wide range of integumentary regions of the body to become dry, rough, and scaly. Ichthyosis affect 5–10/100 000 people worldwide. Lamellar ichthyosis (LI) is part of autosomal recessive congenital ichthyosis and is a significant type of inherited ichthyosis in no-syndromic form. Patients with LI are susceptible to depression and low quality of life. TGM1 gene is the primary gene affected in LI. Clinical manifestations of LI are large scales on lower extremities; hence, the management of LI would consist of hydration, keratolytic, and oral retinoid. Genetic counseling are also recommended for patients with LI and their families. This review provides a brief discussion on the genetics of LI.