Journal of Clinical and Investigative Dermatology

Case Report

Atypical Cutaneous Manifestations of Dyskeratosis Congenita: A Case Report from Yemen

Alshami MA1*, Alshami AM2, Alshami HM1 and Lutf RM1

1Department of Dermatology, Faculty of Medicine and Medical Sciences, Sana’a University, Sana’a, Yemen
2Department of Conservative Dentistry, Faculty of Dentistry, Sana’a University, Sana’a, Yemen
*Address for Correspondence:Mohammad Ali Alshami, Department of Dermatology, Faculty of Medicine and Medical Sciences, Sana’a University, Sana’a 1064, Yemen. E-mail Id: mohammadalshami62@gmail.com
Submission: 16 August, 2026 Accepted: 29 September, 2026 Published: 06 October, 2026
Copyright: © 2026 Alshami MA, et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Dyskeratosis congenita is a rare genodermatosis characterized by a classic triad of reticulate skin pigmentation, nail dystrophy, and mucosal leukoplakia, along with a predisposition to malignancy. We report the case of a 15-year-old boy who presented to our dermatology clinic with the characteristic triad and several rare findings. Unfortunately, genetic testing was not available, so the diagnosis was based solely on clinical findings. To the best of our knowledge, only one case with the additional findings of atrophic scars, reticulated atrophy, and hypopigmented macules has been reported in the literature to date, and no cases of reticulate pigmentation of the helix have yet been described.