Pitfalls and Pearls in the Diagnosis of Monilethrix

Authors

  • Christina Leitner M.D., M.R.C.P. UK, P.G.Cert. in Education for Health Professionals,

    Corresponding author
    1. Department of Dermatology, Dudley Group of Hospitals NHS Foundation Trust, Dudley, UK
    • Department of Dermatology, University Hospitals Bristol NHS Foundation Trust, Bristol, UK
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  • Seautak Cheung M.R.C.P. UK,

    1. Department of Dermatology, University Hospitals Bristol NHS Foundation Trust, Bristol, UK
    2. Department of Dermatology, Dudley Group of Hospitals NHS Foundation Trust, Dudley, UK
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  • David de Berker M.R.C.P. UK

    1. Department of Dermatology, University Hospitals Bristol NHS Foundation Trust, Bristol, UK
    2. Department of Dermatology, Dudley Group of Hospitals NHS Foundation Trust, Dudley, UK
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Address correspondence to Christina Leitner, M.D., Department of Dermatology, Dudley Group of Hospitals NHS Foundation Trust, Vicarage Road, Stourbridge, West Midlands DY8 4JB, UK, or e-mail: leitner@doctors.org.uk.

Abstract

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.

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