A case of dyskeratosis congenita with dorsal tongue erosion as the first manifestation
10.13591/j.cnki.kqyx.2025.05.010
- VernacularTitle:以舌背糜烂为首发表现的先天性角化不良1例
- Author:
Suli WANG
1
;
Wenxia WANG
1
Author Information
1. 山东大学齐鲁医学院口腔医学院·口腔医院口腔黏膜病科,山东省口腔组织再生重点实验室,口腔生物材料与组织再生山东省工程研究中心,山东省口腔疾病临床医学研究中心,山东济南(250012)
- Publication Type:Journal Article
- Keywords:
dyskeratosis congenita;
telomerase;
erosion;
DKC1
- From:
STOMATOLOGY
2025;45(5):376-379
- CountryChina
- Language:Chinese
-
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 diag-nosed 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.
