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Pediatr Dermatol. 2013 Sep-Oct;30(5):633-5. doi: 10.1111/pde.12183. Epub 2013 Jul 9.

Pitfalls and pearls in the diagnosis of monilethrix.

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  • 1Department of Dermatology, University Hospitals Bristol NHS Foundation Trust, Bristol, UK; Department of Dermatology, Dudley Group of Hospitals NHS Foundation Trust, Dudley, UK.


A 4-year-old girl presented with sparse, brittle hair on her entire scalp and keratosis pilaris on the nape of her neck. Subtle microscopic and macroscopic diagnostic features presented a challenge for physicians. Only repeated, optimized light microscopy revealed the diagnosis of monilethrix, a rare genetic hair shaft disorder with a variable phenotypic expression and inheritance pattern. We provide a short overview of methods that maximize the diagnostic yield in a clinical setting and of light microscopy to reach a rapid and accurate diagnosis in difficult cases. We conclude with essential learning points, including a link to assistance with hair microscopy from a tertiary center.

© 2013 Wiley Periodicals, Inc.

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