Hussein Firas, Omar Zainab
Department of Clinical Hematology, Tishreen University Hospital, Tishreen Street, Lattakia 041, Syria.
Oxf Med Case Reports. 2021 Nov 25;2021(11):omab041. doi: 10.1093/omcr/omab041. eCollection 2021 Nov.
Dyskeratosis congenita (DC) is an inherited disease characterized by the triad of abnormal skin pigmentation, nail dystrophy and mucosal leukoplakia. Non-cutaneous abnormalities (dental, gastrointestinal, genitourinary, neurological, ophthalmic, pulmonary and skeletal) have also been reported. Bone marrow failure (BMF) is the main cause of early mortality, with an additional predisposition to malignancy. DC results from an anomalous progressive shortening of telomeres resulting in DNA replication problems inducing replicative senescence. Men are more affected than women are and X-linked recessive, autosomal dominant and autosomal recessive forms of the disease are recognized. There are no targeted therapies for DC. Patients treated with androgens had a hematological response. We herein describe case of a 32-year-old man, presented with several characteristic systemic features of this condition, including the classic triad of lesions, dysplastic bone marrow, epiphora and liver cirrhosis with grade I esophageal varices. Therefore, a prophylactic propranolol was started in additional to danazol. Three-week later, the patient had subsequent increases in his platelet, red cell and white cell counts.
先天性角化不良（DC）是一种遗传性疾病，其特征为皮肤色素沉着异常、指甲营养不良和黏膜白斑三联征。也有非皮肤异常（牙齿、胃肠道、泌尿生殖系统、神经、眼科、肺部和骨骼方面）的报道。骨髓衰竭（BMF）是早期死亡的主要原因，此外还易患恶性肿瘤。DC是由端粒异常进行性缩短导致DNA复制问题，进而引发复制性衰老所致。男性比女性受影响更严重，该病存在X连锁隐性、常染色体显性和常染色体隐性遗传形式。目前尚无针对DC的靶向治疗方法。接受雄激素治疗的患者有血液学反应。我们在此描述一例32岁男性患者，其表现出该疾病的几个典型全身特征，包括经典的三联征病变、发育异常的骨髓、流泪和伴有I级食管静脉曲张的肝硬化。因此，除了达那唑之外，还开始使用预防性普萘洛尔。三周后，患者的血小板、红细胞和白细胞计数随后增加。
