Rothmund-Thomson综合征1例

Rothmund-Thomson syndrome: a case report

患者，男性，16岁，临床表现为自出生后10个月开始在面部.耳廊.掌跖.四肢及臀部出现皮肤异色症样改变，伴有脱发.无汗。病理变化为真皮中下层钙盐及类脂质沉积、并可见泡沫细胞，多核巨细胞及肉芽肿样结构。

A male patient of 16 years old had clinical manifestations of Poikilodermatous skinchanges on face, ears palms and soles, extremities and buttock since 10 months old, accom-panied with alopecia and anhidrosis. The pathological findings showed the deposition of calciumand lipoid in the middle and lower layers of the,dermis with the Presence of foamy cells, multi-inucleated macrphages and granulomatous structhre.