Redkar Neelam N, Pandey Dharmendra B, Jerajani H R, Padhiyar Rupal, Dhokare Aniruddha
Department of Medicine, Lokmanya Tilak Municipal Medical College and General Hospital, Sion, Mumbai 400 022.
J Assoc Physicians India. 2011 Apr;59:260-3.
Dyskeratosis Congenita (DKC) is a rare progressive bone marrow disorder associated with multi-systemic involvement. It is also characterized by triad of abnormal skin pigmentation, nail dystrophy and mucosal leukoplakia. Liver cirrhosis and portal hypertension are said to be uncommon among these patients. We hereby report a case of an adult male who presented with pancytopenia, abnormal skin pigmentation, nail dystrophy and mucosal leukoplakia. Skin biopsies along with clinical features confirmed the case. Imaging studies were reported as suggestive of and portal hypertension. Liver biopsy done but non-conclusive. Patient's one son and one daughter also had similar skin pigmentation.
先天性角化不良（DKC）是一种罕见的进行性骨髓疾病，伴有多系统受累。它还具有异常皮肤色素沉着、指甲营养不良和黏膜白斑三联征的特征。据说肝硬化和门静脉高压在这些患者中并不常见。我们在此报告一例成年男性患者，其表现为全血细胞减少、异常皮肤色素沉着、指甲营养不良和黏膜白斑。皮肤活检及临床特征确诊了该病例。影像学研究报告提示有门静脉高压。进行了肝活检，但结果不明确。患者的一个儿子和一个女儿也有类似的皮肤色素沉着。
