Sneha S, Sudha S, Nair Resmi G, Dyuthi G
Department of Oral Pathology, Govt. Dental College, Calicut Medical College, Kozhikode, Kerala, India.
Indian J Pathol Microbiol. 2024 Jul 13. doi: 10.4103/ijpm.ijpm_846_23.
Dyskeratosis congenita is a rare inherited bone marrow failure disorder characterized by a classic triad: nail dystrophy, reticulate skin pigmentation, and oral leukoplakia. Patients with dyskeratosis congenita have also been described as having gastrointestinal, genitourinary, neurological, ophthalmic, pulmonary, and skeletal abnormalities. Also, 80% of patients are affected with oral leukoplakia and these areas are more prone to develop into oral squamous cell carcinoma. We hereby report a rare case of oral squamous cell carcinoma of the tongue in a young male patient with dyskeratosis congenita.
先天性角化不良是一种罕见的遗传性骨髓衰竭疾病，其特征为典型的三联征：甲营养不良、网状皮肤色素沉着和口腔黏膜白斑。先天性角化不良患者还被描述为存在胃肠道、泌尿生殖系统、神经系统、眼科、肺部和骨骼异常。此外，80%的患者患有口腔黏膜白斑，这些部位更容易发展为口腔鳞状细胞癌。我们在此报告一例患有先天性角化不良的年轻男性患者发生舌部口腔鳞状细胞癌的罕见病例。
