Department of Pediatrics, Division of Pediatric Hematology, Medical Faculty Hospital of Kocaeli University, Kocaeli 41300, Turkey.
Pediatr Blood Cancer. 2010 Dec 1;55(6):1185-6. doi: 10.1002/pbc.22624.
A 26-month-old male presented with bone marrow failure and dystrophic nail lesions mimicking onychomycosis. There was no skin finding. Treatment with androgen and methylprednisolone was started due to unavailability of a matched-related hematopoietic stem cell donor. After 30 months, transfusion support was required. TINF2 mutation was identified at the age of five and dyskeratosis congenita (DC) was confirmed. TIN2 mutation analysis must be carried out in patients younger than 10 years presenting with bone marrow failure even if characteristic physical anomalies of DC is missing. Genetic confirmation of DC prevents ineffective immunotherapy with misdiagnosis of acquired aplastic anemia.
一名 26 月龄男童因骨髓衰竭和酷似甲真菌病的营养不良性指甲病变就诊。患儿无皮肤表现。由于无法找到匹配的相关造血干细胞供体，开始使用雄激素和甲基强的松龙进行治疗。30 个月后，患儿需要输血支持。5 岁时发现 TINF2 突变，确诊为先天性角化不良（DC）。即使缺乏 DC 的典型体格异常，10 岁以下出现骨髓衰竭的患者也必须进行 TIN2 突变分析。对 DC 的基因确认可防止因误诊为获得性再生障碍性贫血而进行无效的免疫治疗。
