Ichthyosiform Erythroderma, Hair Shaft Abnormalities, and Mental and Growth Retardation

Abstract

A new autosomal recessive disorder characterized by growth retardation, progeria-like appearance, mental deficiency, nonbullous congenital ichthyosiform erythroderma, and hair shaft defects consisting of pili torti and trichorrhexis nodosa-like lesions was found in three children of a Chinese family in Singapore. It is possible that this disease is closely related to other rare ectomesodermal disorders with congenital ichthyosis, hair shaft defects, and other congenital abnormalities, and a new classification of these conditions is therefore proposed.