Case Report of Hair Abnormalities in Dyskeratosis Congenita: A Trichoscopic and Microscopic Analysis.

ABSTRACT:

Introduction

Dyskeratosis congenita (DC) is a rare inherited telomere biology disorder characterized 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, pigtail hairs, S-shaped and zigzag hairs, and microscopic evidence of cuticular abnormalities, including ruffled surfaces, flat fractures, and trichoptilosis.

Conclusion

This case highlights the under-recognized spectrum of hair pathology in DC, supporting the role of telomere dysfunction in impairing hair follicl

SUBMITTER: Tabka M 

PROVIDER: S-EPMC12707919 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature