Dyskeratosis Congenita: A Rare Genodermatosis Case Report

Zinsser-Cole-Engman syndrome, also known as dyskeratosis congenita, is a rare inherited skin disorder that affects multiple organ systems, including the bone marrow, lungs, and carries an increased risk of malignancies. The condition is characterized by the classic triad of abnormal skin pigmentation, nail dystrophy, and oral leukoplakia. This case report describes the male patient who presented to the department of oral medicine and radiology with a chief complaint of a white patch on his tongue that had persisted for 5 months. The patient’s face was symmetrical. Reticulated hyperpigmentation was observed on the face, neck, dorsal surfaces of the body, and the tops of the feet. His nails were atrophic and dystrophic, showing longitudinal ridging. Intraoral examination revealed a homogeneous white plaque on the dorsum of the tongue, with scattered speckled areas at the tip. The patient was advised to undergo lifelong multidisciplinary follow-up, including biannual monitoring of oral leukoplakia and skin pigmentation.