Monilethrix in monozygotic twins with very rare mutation in KRT 86 gene

Abstract

Monilethrix is a heretitary disorder, characterized by abnormal hair shafts with nodes and narrow internodes [1], typically caused by autosomal dominant mutations in type II hair keratin genes KRT 81, KRT 83 and KRT 86 [2-8]. Rarely, autosomal recessive mutation in desmoglein 4 gene may be responsible for the disease [9,10]. Among affected family members, symptoms may vary from almost normal scalp to alopecia, moreover the severity of the disease may change during patient life.

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