Baykal C, Kavak A, Gülcan P, Büyükbabani N
Istanbul University, Istanbul Medical School, Department of Dermatology Istanbul, Turkey.
J Eur Acad Dermatol Venereol. 2003 Mar;17(2):216-8. doi: 10.1046/j.1468-3083.2003.00585.x.
Dyskeratosis congenita is a rare inheritable disorder characterized by abnormalities of the skin, nails and oral mucosa. Aplastic anaemia resulting from bone marrow hypoplasia is a frequent cause of death. Squamous cell carcinoma developing from leukoplakia and visceral malignancies are other complications of the disease. We report here a case of dyskeratosis congenita in a man who developed three neoplasias of different systems over a period of many years. Squamous cell carcinoma and gastric adenocarcinoma manifested 17 years after the man was diagnosed with Hodgkin's disease.
先天性角化不良是一种罕见的遗传性疾病，其特征为皮肤、指甲和口腔黏膜异常。骨髓发育不全导致的再生障碍性贫血是常见的死亡原因。由白斑发展而来的鳞状细胞癌和内脏恶性肿瘤是该疾病的其他并发症。我们在此报告一例先天性角化不良病例，该男子在多年间发生了三个不同系统的肿瘤。鳞状细胞癌和胃腺癌在该男子被诊断为霍奇金病17年后出现。
