Treister Nathaniel, Lehmann Leslie E, Cherrick Irene, Guinan Eva C, Woo Sook-Bin
Department of Oral Medicine, Infection, and Immunity, Harvard University School of Dental Medicine, Boston, Mass, USA.
Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2004 Nov;98(5):566-71. doi: 10.1016/j.tripleo.2004.01.011.
Dyskeratosis congenita (DC) is a rare inherited bone marrow failure syndrome characterized by the triad of reticular pigmentation of the skin, nail dystrophy, and mucosal leukoplakia. DC is often associated with severe pancytopenia, and bone marrow failure is the principal cause of early mortality. Malignant transformation of mucosal leukoplakias may also occur. Rarely, aplastic anemia precedes the other clinical manifestations of the disease. We present a case of a 13-year-old boy who was diagnosed at age four with idopathic aplastic anemia, was treated successfully with an allogeneic bone marrow transplant, then subsequently developed skin, nail, and tongue lesions. While the initial impression was chronic graft-versus-host disease, additional work-up confirmed the diagnosis of DC.
先天性角化不良（DC）是一种罕见的遗传性骨髓衰竭综合征，其特征为皮肤网状色素沉着、指甲营养不良和黏膜白斑三联征。DC常伴有严重全血细胞减少，骨髓衰竭是早期死亡的主要原因。黏膜白斑也可能发生恶性转化。罕见情况下，再生障碍性贫血先于该疾病的其他临床表现出现。我们报告一例13岁男孩的病例，他在4岁时被诊断为特发性再生障碍性贫血，接受异基因骨髓移植成功治疗，随后出现皮肤、指甲和舌部病变。虽然最初的印象是慢性移植物抗宿主病，但进一步检查确诊为DC。
