Ahmed Faiza, Blegen Kristina, Tarbox Michelle
Department of Dermatology, Texas Tech University Health Sciences Center, Lubbock, Texas, USA.
Pediatr Dermatol. 2025 Jan-Feb;42(1):170-174. doi: 10.1111/pde.15750. Epub 2024 Sep 18.
Dyskeratosis congenita (DC) is a rare inherited bone marrow disease that classically presents with the triad of oral leukoplakia, nail dystrophy, and reticular hyperpigmentation. It is most commonly caused by a defect in the DKC1 gene involved in telomere stability. Malignant progression of oral leukoplakia to squamous cell carcinoma (SCC) is rare in DC, especially in younger patients, and cutaneous SCC is only reported in 1.5% of cases of DC. Here we report a case of a 12-year-old female with a familial heterozygous RTEL1 (regulator of telomere elongation helicase 1) gene mutation associated with a severe phenotype of DC characterized by multiple cutaneous SCCs.
先天性角化不良（DC）是一种罕见的遗传性骨髓疾病，典型表现为口腔黏膜白斑、指甲营养不良和网状色素沉着三联征。它最常见的病因是参与端粒稳定性的DKC1基因突变。在DC中，口腔黏膜白斑恶变为鳞状细胞癌（SCC）的情况很少见，尤其是在年轻患者中，皮肤SCC仅在1.5%的DC病例中被报道。在此，我们报告一例12岁女性患者，其家族性杂合RTEL1（端粒延长解旋酶1调节因子）基因突变，伴有以多发性皮肤SCC为特征的严重DC表型。
