A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene

Summary

Background:  Monilethrix is a rare condition characterized by a hair shaft anomaly known as beaded hair. It can show either an autosomal dominant or recessive inheritance pattern. Autosomal dominant form of monilethrix is caused by mutations in basic hair keratin genes KRT81, KRT83, or KRT86, while autosomal recessive form is resulting from mutations in desmoglein 4 (DSG4) gene.


Objectives:  To define the molecular basis of monilethrix in a Japanese patient who has had sparse and fragile scalp hairs since birth.


Materials and methods:  We performed mutation analysis of candidate genes. In addition, ...

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