Bongiorno Michelle, Rivard Shayna, Hammer Daniel, Kentosh Joshua
Naval Health Clinic, Hawaii, Hawaii, USA.
Department of Dermatology, Walter Reed National Military Medical Center, Bethesda, MD, USA.
Oral Surg Oral Med Oral Pathol Oral Radiol. 2017 Oct;124(4):e239-e242. doi: 10.1016/j.oooo.2017.08.001. Epub 2017 Aug 12.
Dyskeratosis congenita (DC) is a rare, inherited, bone marrow failure syndrome caused by premature telomere shortening. The classic mucocutaneous triad of clinical features comprises reticulated skin pigmentation, nail dysplasia, and oral leukoplakia. Multiple somatic features, including bone marrow failure, pulmonary fibrosis, and liver disease, are also common. DC significantly increases the risk for malignant transformation, including myelodysplastic syndrome, acute myeloid leukemia, head and neck squamous cell carcinoma, and anogenital cancer. This case report describes a 23-year-old female with malignant transformation of oral leukoplakia to squamous cell carcinoma, demonstrated in a series of biopsies of the same site. Increased surveillance, proper biopsy technique, and a multidisciplinary approach are critical for patients with DC to ensure rapid diagnosis and treatment.
先天性角化不良（DC）是一种罕见的遗传性骨髓衰竭综合征，由端粒过早缩短引起。经典的黏膜皮肤三联征临床特征包括网状皮肤色素沉着、指甲发育异常和口腔白斑。多种躯体特征，包括骨髓衰竭、肺纤维化和肝病，也很常见。DC显著增加了恶性转化的风险，包括骨髓增生异常综合征、急性髓系白血病、头颈部鳞状细胞癌和肛门生殖器癌。本病例报告描述了一名23岁女性，其口腔白斑恶变成为鳞状细胞癌，这在同一部位的一系列活检中得到证实。加强监测、采用恰当的活检技术以及多学科方法对于DC患者至关重要，以确保快速诊断和治疗。
