Beckmann Nicholas
University of Texas Health Science Center, 6431 Fannin Street, MSB 2.130B, Houston, TX 77030, USA.
Case Rep Med. 2015;2015:495164. doi: 10.1155/2015/495164. Epub 2015 Nov 5.
Rothmund-Thomson syndrome is a rare autosomal recessive genodermatosis characterized by a poikilodermatous rash starting in infancy as well as various skeletal anomalies, juvenile cataracts, and predisposition to certain cancers. Although Rothmund-Thomson syndrome is associated with diminished bone mineral density in addition to multiple skeletal abnormalities, there are few reports of the association with stress fractures or pathologic fractures in low energy trauma or delayed healing of fractures. Presented is a case of a young adult male with Rothmund-Thomson syndrome presenting with multiple episodes of long bone fractures caused by low energy trauma with one of the fractures exhibiting significantly delayed healing. The patient was also found to have an asymptomatic stress fracture of the lower extremity, another finding of Rothmund-Thomson syndrome rarely reported in the literature. A thorough review of the literature and comprehensive presentation of Rothmund-Thomson syndrome is provided in conjunction with our case.
罗思蒙德 - 汤姆森综合征是一种罕见的常染色体隐性遗传性皮肤病，其特征为婴儿期开始出现的皮肤异色样皮疹以及各种骨骼异常、青少年白内障，且易患某些癌症。尽管罗思蒙德 - 汤姆森综合征除了多种骨骼异常外还与骨矿物质密度降低有关，但关于其与低能量创伤导致的应力性骨折或病理性骨折或骨折延迟愈合之间关联的报道较少。本文介绍了一例患有罗思蒙德 - 汤姆森综合征的年轻成年男性病例，该患者因低能量创伤出现多次长骨骨折，其中一处骨折愈合明显延迟。患者还被发现有下肢无症状应力性骨折，这是罗思蒙德 - 汤姆森综合征的另一项在文献中鲜有报道的表现。结合我们的病例，对罗思蒙德 - 汤姆森综合征进行了全面的文献综述和综合介绍。
