Department of Prosthetic Dentistry, Faculty of Dentistry, Kirikkale University, Kirikkale, Turkey.
Int J Dent Hyg. 2010 Feb;8(1):68-74. doi: 10.1111/j.1601-5037.2009.00364.x.
Dyskeratosis congenita (DKC) is an inherited disorder that usually presents in males, consisting of the triad of leukoplakia of the mucous membranes, nails dystrophy and skin pigmentation. Oral and dental abnormalities may also be present. Most cases are X-linked autosomal dominant, but recessive forms have also been reported. This study describes herein a case in which the classic triad of signs was present, along with the development of leukoplakia in the buccal mucosa. Our patient, a 25-year-old man, presented with several characteristic systemic features of this condition, together with the following oral features: hypodontia, delayed dental eruption, short blunt roots, extensive caries, gingival inflammation and bleeding, loss of alveolar bone and buccal mucosa with leukoplakia and irregular ulcers. The patient was given full preventive care. The primary teeth were extracted under local anaesthesia. After establishing optimal oral health, oral hygiene instructions were given to the patient and he was rehabilitated with fixed and removable partial denture. Prosthetic treatments were carried out after establishing optimal oral health. This treatment option appears beneficial in this patient, resulting in rehabilitation of occlusion and less mechanical irritation to the oral mucosa.
先天性角化不良（DKC）是一种遗传性疾病，通常发生于男性，其特征为三联征：黏膜白斑、指甲营养不良和皮肤色素沉着。口腔和牙齿异常也可能存在。大多数病例为 X 连锁显性遗传，但也有报道称存在隐性遗传形式。本研究描述了一例存在典型三联征的病例，同时伴有颊黏膜的白斑形成。我们的患者是一名 25 岁男性，具有该病的几个典型系统特征，同时还具有以下口腔特征：牙缺失、牙延迟萌出、短而钝的牙根、广泛的龋齿、牙龈炎症和出血、牙槽骨和颊黏膜丧失以及伴有白斑和不规则溃疡。给予患者全面的预防保健。在局部麻醉下拔除了乳牙。在建立最佳口腔健康后，给予患者口腔卫生指导，并使用固定和可摘局部义齿进行修复。在建立最佳口腔健康后进行了修复治疗。该治疗方案对该患者有益，恢复了咬合关系，并减少了对口腔黏膜的机械刺激。
