A case of dyskeratosis congenita with dorsal tongue erosion as the first manifestation
Year: 2025
Type: article
Abstract: Dyskeratosis congenita is a hereditary short telomere disease caused by mutations in telomerase-related genes. The classic clinical manifestations are oral leukoplakia, nail dystrophy, and skin pigmentation. This article reported a 7-year-old male child diagnosed with dyskeratosis congenita but with dorsal tongue erosion as the first manifestation. Genetic testing results confirmed DKC1 gene mutations and a literature review was performed.
Author: WANG Suli, WANG Wenxia
Institution: Shandong University
Language: English
Subfield: Physiology
Field: Medicine
Domain: Health Sciences
Open Access status: green
OpenAlex ID: W6885419104
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