Mayo Medical School, Mayo Clinic College of Medicine, Rochester, Minnesota, USA.
Am J Med Genet A. 2012 Sep;158A(9):2250-3. doi: 10.1002/ajmg.a.35475. Epub 2012 Jul 20.
Rothmund-Thomson syndrome (RTS) is an autosomal recessive disorder caused by biallelic mutations in RECQL4, a helicase involved with chromosomal instability and DNA repair. Patients typically present with a poikilodermatous facial rash, photosensitivity, congenital bony abnormalities, short stature, and have a predilection for osteosarcoma and cutaneous malignancies. We present a 34-year-old male RTS patient, previously diagnosed with osteosarcoma of the right forearm which was successfully treated with resection and chemotherapy, who has had multiple tibial fractures and has suffered from chronic nonunion of the proximal tibias bilaterally for greater than 9 years. The patient subsequently developed generalized lower extremity osteopenia with normal calcium homeostasis and calcitriol levels. As the RTS population continues to reach greater ages we must be mindful of other health concerns that may develop. Bone health is one considerable concern with a large portion of patients having congenital bony abnormalities and many receiving chemotherapy for osteosarcoma. We conclude that screening for bone health and supplementation with calcium and vitamin D may be warranted in RTS patients with a history of fractures and osteosarcoma treatment.
Rothmund-Thomson 综合征（RTS）是一种常染色体隐性遗传病，由 RECQL4 双等位基因突变引起，该基因编码一种与染色体不稳定性和 DNA 修复有关的解旋酶。患者通常表现为斑驳性皮疹、光敏感、先天性骨畸形、身材矮小，并且易患骨肉瘤和皮肤恶性肿瘤。我们报告了一名 34 岁的男性 RTS 患者，该患者先前被诊断为右前臂骨肉瘤，经手术切除和化疗成功治疗，此后他多次发生胫骨骨折，并患有双侧胫骨近段慢性不愈合，病程大于 9 年。随后，该患者出现全身性下肢骨质疏松症，钙稳态和骨化三醇水平正常。随着 RTS 人群年龄的增长，我们必须注意可能出现的其他健康问题。骨骼健康是一个值得关注的问题，因为很大一部分患者存在先天性骨畸形，许多患者因骨肉瘤接受化疗。我们的结论是，对于有骨折和骨肉瘤治疗史的 RTS 患者，可能需要进行骨骼健康筛查，并补充钙和维生素 D。
