Monilethrix

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Jesus Rosario Hernandez, M.D. [2].

Overview

Monilethrix is an autosomal dominant hair disease that results in short, fragile, broken hair that appears beaded. It comes from the Latin word for necklace (monile) and the Greek word for hair (thrix).

Presentation

The presentation may be of alopecia. Individuals vary in severity of symptoms. Nail deformities may also be present as well as hair follicle keratosis and follicular hyperkeratosis.

Causes

The genes KRTHB1 (KRT81), KRTHB3 (KRT83), or KRTHB6 (KRT86) that are mutated in this condition code for type II hair cortex keratins.[1]

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References

  1. Schweizer J (2006). "More than one gene involved in monilethrix: intracellular but also extracellular players". J. Invest. Dermatol. 126 (6): 1216–9. doi:10.1038/sj.jid.5700266. PMID 16702971.

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