Cortisse Natasha, Forget Patricia, Dresse Marie F, Florkin Benoit, Mascard Eric, Guinebretière Jean M, Brugières Laurence, Hoyoux Claire
Department of Pediatrics, Division of Hematology/Oncology, Clinique CHR de la Citadelle, Liège, Belgium.
J Pediatr Hematol Oncol. 2012 Oct;34(7):545-7. doi: 10.1097/MPH.0b013e31826157b1.
Pycnodysostosis is a rare sclerosing bone dystrophy. The main clinical features are short stature and oral and maxillofacial abnormalities such as a large head, a small and underdeveloped face with prominent nose and eyes, irregular dentition, small hands and feet with dystrophic nails, and trunk deformities such as scoliosis. The differential diagnosis is established with other skeletal dysplasias such as osteopetrosis, cleidocranial dysplasia, and idiopathic acro-osteolysis. Since its first description in 1962 by Maroteaux and Lamy, about 100 cases have been published, some of these with uncommon features. We describe the case of a 22-year-old European man with pycnodysostosis who developed a chondroblastic osteosarcoma of the right femur. No case of bone cancer in this sclerosing bone disease had been described so far.
致密性骨发育不全是一种罕见的硬化性骨营养不良。主要临床特征为身材矮小以及口腔颌面部异常，如大头、面部小且发育不全、鼻和眼突出、牙列不齐、手足小且指甲营养不良，还有脊柱侧弯等躯干畸形。其鉴别诊断需与其他骨骼发育异常疾病，如骨硬化症、锁骨颅骨发育不全和特发性肢端骨质溶解症相鉴别。自1962年马罗托和拉米首次描述该病以来，已发表约100例病例，其中一些具有不常见的特征。我们报告一例22岁患有致密性骨发育不全的欧洲男性病例，该患者发生了右股骨软骨母细胞性骨肉瘤。迄今为止，尚未有关于这种硬化性骨病发生骨癌的病例报道。
