Evans Scott, Brewer Paul, Vaiyapuri Sumathi, Grimer Robert
Royal Orthopedic Hospital, Bristol Road, Birmingham, UK.
J Bone Oncol. 2013 Apr 22;2(2):92-3. doi: 10.1016/j.jbo.2013.04.002. eCollection 2013 Jun.
Trichorhinophalangeal syndrome (TRPS) is a rare genetic disorder with typical craniofacial and skeletal abnormalities. Three main subtypes have been described. All variations of the condition affect the hair (tricho), nose (rhino) and fingers (phalangeal). The diagnosis is usually made through clinical examination augmented by hand radiographs that reveal characteristic cone-shaped epiphyses Sporadic case reports detailing TRPS have been described in the literature. We describe the first report of high-grade osteosarcoma presenting in two members of the same family with trichorhinophalangeal syndrome (TRPS).
毛发鼻指综合征(TRPS)是一种罕见的遗传性疾病,具有典型的颅面和骨骼异常。已描述了三种主要亚型。该病症的所有变体都会影响毛发(tricho)、鼻子(rhino)和手指(phalangeal)。诊断通常通过临床检查并结合手部X线片来进行,X线片可显示特征性的锥形骨骺。文献中已有关于TRPS的散发病例报告。我们报告了首例同一家庭中两名患有毛发鼻指综合征(TRPS)的成员发生高级别骨肉瘤的病例。