Clinical case identifies hair abnormalities in dyskeratosis congenita, indicating telomere dysfunction's role in hair follicle integrity.
Introduction: Dyskeratosis congenita (DC) is a rare inherited telomere biology disorder characterised by mucocutaneous and systemic manifestations. There are limited descriptions of hair involvement. Case presentation: We present the case of a 19-year-old male from a consanguineous family, diagnosed with DC, who exhibited classical dermatological and hematological features, as well as distinctive trichoscopic findings , including scattered irregular black dots, pig-tail hairs, S-shaped and zigzag hairs, and microscopic evidence of cuticular abnormalities, including ruffled surfaces, flat fractures, and trichoptilosis. Conclusion: This case highlights the underrecognised spectrum of hair pathology in DC, supporting the role of telomere dysfunction in impairing hair follicle homeostasis and structural integrity.
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Tabka et al. (2025) studied this question.
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