多骨型骨纤维异常增殖症1例

1　病例资料患者 ,男 ,4 9岁。因右下肢弯曲畸形 4 6年 ,右小腿溃烂经久不愈 15年入院。幼时右大腿曾多次跌伤致右股骨多次骨折 ,无放射线、毒物、长期药物接触史 ,家族中无肿瘤病史。体格检查 :头部明显不对称 ,右侧头颅面部弓形弯曲增大。右侧髋部膨隆变形。右下肢重度大“S”形畸形 ,肌萎缩明显。右小腿右足旋转畸形 ,右小腿右足背广泛黑色素沉着并散布白斑 ,皮肤肿胀光亮。右小腿下段前内侧及右足背有大小不等窦道形成伴少许脓性分泌物。右下肢因弯曲较对侧缩短近 4 0cm。生理反射消失 ,右下肢功能完全丧失。见图 1。辅助检查 :X线片示…     

Oral alendronate treatment for polyostotic fibrous dysplasia: a case report

Recently, intravenous therapy with pamidronate has been reported to be effective for treating fibrous dysplasia. However, very little is known about the efficacy of oral alendronate for fibrous dysplasia. We describe a patient with polyostotic fibrous dysplasia, who had complained of persistent pain for more than 20 years, that was treated with oral alendronate alone. Follow-up examinations were at intervals of 3 months for 2 years. The pain, radiographic findings, and bone turnover, which was monitored using various markers, improved. No adverse side effect was noted. Oral alendronate is suggested to be a useful option in the treatment of polyostotic fibrous dysplasia.     

Multiple myxomata of soft tissue associated with polyostotic fibrous dysplasia. A case report

Polyostotic fibrous dysplasia with associated myxomata of soft tissue has been reported rarely. In most cases, the patient appears first with fibrous dysplasia and many years later presents with soft-tissue tumors. This is a report of a 57-year-old woman--an unusual case of soft-tissue myxomas with fibrous dysplasia. This case suggests that a patient developing myxomatous tumors of the soft tissues might be evaluated for the possibility of associated fibrous dysplasia.     

Aggressive aneurysmal bone cyst in association with polyostotic fibrous dysplasia: A case report

IntroductionAneurysmal bone cyst occurring in the setting of previously diagnosed fibrous dysplasia is rare. While both are benign processes, pain, compression of nearby structures and risk of fracture can require treatment.Presentation of caseIn this report, we describe a 56 year old male who developed an aggressive aneurysmal bone cyst secondary to fibrous dysplasia in the proximal tibia over a period of 8 months. He required an above knee amputation for disease and symptom control due to the aggressive nature of disease and medical comorbidities.DiscussionThe diagnosis of a secondary lesion can prove difficult. It is important to exclude a malignant disease process, particularly when imaging demonstrates an aggressive appearance. In this case, repeat imaging, CT guided biopsies and an open biopsy were performed to exclude malignancy prior to definitive surgical management.ConclusionIn order to exclude secondary lesions, we suggest further investigation for new onset pain in the setting of a benign lesion.     

Symptomatic polyostotic fibrous dysplasia of the thoracic spine

We present a case of polyostotic fibrous dysplasia with limited involvement in thoracic spine and adjacent ribs. The patient underwent posterior instrumentation performed between Th3 and Th11 with pedicle screw system, followed by costotransversectomy of 7th and 8th costovertebral junctions and posterior spinal fusion for costal lesions. In the same operation, curettage was done for the lesion in Th6 vertebra and bone grafting and anterior total corpectomy were performed for Th7 and Th8 vertebrae. 360 degrees spinal fusion was done using titanium mesh as strut graft and autogenous rib grafts. Fibrous dysplasia occurs rarely in axial bones than peripheral bones. The cystic lesions in segments of the whole spine should be evaluated for the possibility of fibrous dysplasia with detailed radiographical examination and biopsy.     

Bone mineralization in polyostotic fibrous dysplasia: histomorphometric analysis.

Fibrous dysplasia (FD) of bone can be complicated by renal phosphate wasting. The effect of hypophosphatemia on normal and dysplastic bone of FD patients has not been well characterized. In this study, we compared serum phosphorus (sPi) levels to histomorphometric findings in 27 iliac bone samples from 23 children and adolescents (aged 4.2-16.4 years) with polyostotic FD. The samples were separated into two groups, based on the presence (n = 10) or absence (n = 17) of a dysplastic lesion within the specimen. Histomorphometric results were compared with those from 18 age-matched control subjects without metabolic bone disease. In dysplastic lesions, trabeculae were clearly thinner and increased in number. Osteoid indices, osteoblast surface per bone surface, and mineralization lag time were elevated in dysplastic areas, but there was no detectable effect of sPi concentrations on these indices. In nondysplastic bone tissue, low sPi levels were associated with mildly increased osteoid thickness and prolonged mineralization lag time. None of the 13 patients in whom hand X-rays were available at the time of biopsy had radiological signs of rickets. In conclusion, low sPi can cause a mild systemic mineralization defect in FD, but the more severe mineralization defect seen in dysplastic lesions is independent of sPi levels. It is debatable whether the mild systemic mineralization defect warrants treatment with oral phosphorus supplementation if signs of rickets are absent.     

Fracture incidence in polyostotic fibrous dysplasia and the McCune-Albright syndrome.

In patients with polyostotic fibrous dysplasia of bone, the peak incidence of fractures is during the first decade of life, followed by a decrease thereafter. Phosphaturia is associated with an earlier incidence and increased frequency of fractures. INTRODUCTION: Fibrous dysplasia (FD) is a disorder involving either one (monostotic) or several bones (polyostotic FD [PFD] and sometimes is associated with cafe-au-lait hyperpigmentation of the skin and one or more hyperfunctioning endocrinopathies (McCune-Albright syndrome [MAS]). Both PFD and MAS are often associated with phosphaturia. Although fractures occur frequently in PFD/MAS, fracture incidence and the effect of age and co-existing metabolic abnormalities (endocrinopathy and/or phosphaturia) on fractures are ill defined. MATERIALS AND METHODS: We reviewed the medical records and examined the endocrine and phosphorus metabolism of 35 patients with PFD/MAS. We report on the age at which extremity fractures occurred and their location and treatment. The results of endocrine and phosphorus metabolism testing and associations between age of first fractures, number of fractures, fracture rate, and metabolic abnormalities were noted. RESULTS: The average follow-up was 14.2 years (range, 2-39 years), during which 172 fractures occurred. The number and sites of fractures were 103 femoral, 25 tibial, 33 humeral, and 11 forearm. Twenty-seven patients had PFD with one or more endocrinopathies and/or phosphaturia, and eight had PFD alone. The endocrinopathies included precocious puberty (n = 19), hyperthyroidism (n = 9), growth hormone excess (n = 6), and one patient each with Cushing syndrome and primary hyperparathyroidism. Twelve patients had phosphaturia. The peak rate of fractures occurred between 6 and 10 years of age and decreased thereafter. Patients with metabolic abnormalities sustained their first fracture at an earlier age (6.9 versus 16.6 years, p < 0.005) and had a higher lifetime rate of fractures (0.29 versus 0.08 fractures/year), relative to patients with PFD alone. Phosphaturia was the single metabolic dysfunction associated with both an earlier age of first fracture (5.1 versus 16.6 years, p < 0.05) and a greater lifetime fracture rate (0.35 versus 0.08 fractures/year, p < 0.05). CONCLUSIONS: The occurrence of extremity fractures in FD peaks between 6 and 10 years of age and declines thereafter. Fractures occur earlier and more frequently in the presence of phosphaturia. These data have implications for long-term prognosis, clinical management, and interpretation of therapeutic interventions.     

Diagnosis and treatment of an odontoid fracture in a patient with polyostotic fibrous dysplasia: case report

Fibrous dysplasia of the cervical spine is rare. No prior reports have discussed odontoid fractures in the setting of fibrous dysplasia. We describe a 26-year-old man who suffered a traumatic odontoid fracture in an area of preexisting fibrous dysplasia. The patient was treated conservatively in a sterno-occipito-mandibular immobilizer brace with a good result. A review of fibrous dysplasia is presented. Alternative methods of diagnosis and treatment options in our patient are discussed.