More than One Gene Involved in Monilethrix: Intracellular but also Extracellular Players

Monilethrix, an autosomal dominant human hair disorder, is caused by mutations in three type II hair cortex keratins. Rare cases of the disease with non-vertical transmission have now been found to overlap with localized autosomal recessive hypotrichosis. The underlying gene, desmoglein 4 (DSG4), belongs to the desmosomal cadherin superfamily and is also expressed in the cortex of the hair follicle