Rothmund-Thomson综合征

Rothmund-Thomson syndrome:a case report

报告1例Rothmund-Thomson综合征。患儿男,3岁。先天性皮肤异色及光敏2年余,伴有语言、运动发育迟缓。皮肤科检查:全身皮肤粗糙、干燥,面部、四肢远端及臀部对称性的网状褐色斑,伴有色素减退、毛细血管扩张及萎缩。组织病理示表皮萎缩,界面改变,真皮浅层苔藓样炎性细胞浸润,散在噬色素细胞。基因检测:RecQL4复合杂合突变:c.727G>A,IVS8-1C>T。诊断:Rothmund-Thomson综合征。

A case of Rothmund-Thomson syndrome is reported. A 3-year-old boy presented with poikiloderma, photosensitivity and developmental retardation for more than 2 years. Physical examination showed generalized dry skin. There are brown-pigmented patches in a symmetric and reticular distribution, associated with hypopigmention, telangiectasias and atrophy, on the face and buttocks. Histopathological examination showed atrophy of the epidermis with interface changes and a lichnoid inflammation mixed with sporadic melanophages in the superficial dermis. The mutation of gene RecQL4, c.727 G>A, was detected. The diagnosis of Rothmund-Thomson syndrome was made.