Lamellar ichthyosis

Overview

Type of disease: Congenital onset | Infectious disease | Rare conditions

Lamellar ichthyosis is a rare genetic skin disorder in which the skin cells are produced at a normal rate, but they do not separate normally at the surface of the skin and are not shed as quickly as they should be; this results in the formation of scales. Lamellar ichthyosis is present at birth; many babies born with the condition are covered with a clear membrane (the collodion) and have skin that can be red or dark, tight and split. The eyelids and lips may be forced open by the tightness of the skin (which may continue into adulthood), and there may be contractures around the fingers. Other signs and symptoms may include problems with temperature regulation, water loss, secondary infections, thickened nails, and hair loss. The condition may be caused by mutations in any of several different genes and is usually inherited in an autosomal recessive manner. Treatment may include moisturizers, keratolytics, and oral synthetic retinoids (in severe cases). Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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