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J Invest Dermatol. 2006 Jun;126(6):1216-9.

More than one gene involved in monilethrix: intracellular but also extracellular players.

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  • Section of Normal and Neoplastic Epidermal Differentiation, German Cancer Research Center, Heidelberg, Germany. j.schweizer@dkfz.de


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.

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