title: Pitfalls and pearls in the diagnosis of monilethrix.
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.
authors.affiliation: Department of Dermatology, University Hospitals Bristol NHS Foundation Trust, Bristol, UK; Department of Dermatology, Dudley Group of Hospitals NHS Foundation Trust, Dudley, UK.
authors.forename: Christina
authors.initials: C
authors.lastname: Leitner
authors.forename: Seautak
authors.initials: S
authors.lastname: Cheung
authors.forename: David
authors.initials: D
authors.lastname: de Berker
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000473:pathology; D002675:Child, Preschool; D007644:Darier Disease / Q000175:diagnosis* / Q000473:pathology; D046169:Dermoscopy / Q000379:methods*; D003937:Diagnosis, Differential; D005138:Eyebrows / Q000002:abnormalities* / Q000473:pathology; D005260:Female; D006197:Hair / Q000473:pathology*; D006801:Humans; D056734:Monilethrix / Q000175:diagnosis* / Q000473:pathology