Molina M I, Santolaya J M, Delgado A, Garrote M I, Martínez M R, Indiano J M, Ereño C
Service de pédiatrie, Hôpital civil de Basurto, Bilbao, Espagne.
Arch Pediatr. 1995 Sep;2(9):865-70. doi: 10.1016/0929-693x(96)81265-6.
The Rothmund-Thomson syndrome is a hereditary dermatosis frequently accompanied by less well-known non dermatologic features including osteogenic sarcoma.
A girl developed the classical dermatologic features of the Rothmund-Thomson syndrome since the first months of life. When she was 6 years old, she suffered from painful limitation of motion of her left leg. X-rays, MNR imaging and bone scintigraphy showed typical features of osteosarcoma of the distal portion of the femur. Diagnosis was confirmed by histologic examination through open biopsy. The search for metastatic lesions was negative. The patient was given chemotherapy and the tumor was resected 45 days later followed by postoperative chemotherapy.
About 12 similar cases of osteosarcoma have been reported in patients with the Rothmund-Thomson syndrome. A review of literature allows to recognize some peculiar features of such association.
罗思蒙德 - 汤姆森综合征是一种遗传性皮肤病，常伴有一些不太为人所知的非皮肤特征，包括骨肉瘤。
一名女孩自出生后的头几个月就出现了罗思蒙德 - 汤姆森综合征的典型皮肤特征。6岁时，她左腿活动时疼痛受限。X线、磁共振成像和骨闪烁显像显示股骨远端骨肉瘤的典型特征。通过开放活检的组织学检查确诊。转移性病变检查结果为阴性。患者接受了化疗，45天后切除肿瘤，随后进行术后化疗。
罗思蒙德 - 汤姆森综合征患者中已报告约12例类似骨肉瘤病例。文献回顾有助于认识这种关联的一些特殊特征。
