Fibrous dysplasia of the proximal femur: surgical management options and outcomes

Purpose

The management of proximal femoral deformity in fibrous dysplasia (FD) is a challenge to the orthopaedic surgeon. The purpose of this study was to analyze the various presentations of FD of proximal femur and the results of the various treatment modalities for the same.

Methods

This is a retrospective cohort study of 23 patients (24 femora) with FD who underwent surgery for the proximal femur. The study sample included 14 males, nine females. Ten patients had a monostotic disease, eight patients had polyostotic disease, and five patients had McCune-Albright syndrome.

Results

Group 1: shepherd crook deformity—included five patients who underwent femoral neck osteotomy. Four patients had intramedullary (IM) nailing with neck cross-pinning and all patients showed union. One patient was stabilized with external fixation, which failed. Group 2: nine patients (ten femora) presented with frank pathological fracture. Nine underwent fixation with IM nailing, one with locking plate and screws. Three patients had to undergo more than one procedure and all fractures showed good union. Group 3: nine patients who presented with bone cyst and pain. All patients underwent biopsy; four of them had curettage with bone graft.

Conclusion

Shepherd crook deformity can be treated by a well-planned osteotomy and fixation with intramedullary implants with neck cross-pinning. Frank pathological fractures fixation with an intramedullary nail has excellent results even if not accompanied by resolution of the fibrodysplastic lesion. More than one procedure may be required. External fixation is not an optimal choice for fixation of femoral osteotomies in FD.     

Pain in fibrous dysplasia of bone: age-related changes and the anatomical distribution of skeletal lesions

Summary To determine the prevalence, distribution, age-related changes and treatment of pain in fibrous dysplasia, we studied 78 children and adults. Pain was common, more prevalent and intense in adults, sometimes requiring narcotic analgesia. It was often untreated, especially in children, and surprisingly severity did not correlate with skeletal disease burden. Introduction Pain is common in fibrous dysplasia (FD), but relatively unstudied. We studied a well-characterized population of patients with a spectrum of disease. Methods Thirty-five children (16 male, 19 female, mean age 11.4 (range 5–18)) and 43 adults (15 male, 28 female, 23–62 yrs, mean age 40.3 (range 23–62)) were studied. Bone scans were used to identify the location and extent of disease. The Brief Pain Inventory was used to determine severity. Results Pain at sites of FD was common, reported by 67% of the population, but more prevalent and severe in the adult group than the children (81% and 49%, respectively p < 0.005, severity 4.1/10, and 2.8/10, respectively, p < 0.01). Surprisingly, there was no correlation between pain severity and skeletal disease burden. Children were more likely than adults to be untreated for pain (44% vs. 26%). Conclusions Pain, which was sometimes severe, was common in subjects with FD. It was often un- or under-treated, especially in children. The prevalence and severity of pain was greater in the adult group, but unrelated to the burden of FD. Disclosures: none     

Fibrous dysplasia of the maxilla

Fibrous dysplasia is a rare disorder of the bone. It is seen in 2 main forms of presentation, monoostotic and the polyostotic form with café au lait spots and precocious puberty (McCune-Albright syndrome). Most of the cases present in the first 2 decades of life, and the lesions are rare in infants (Joseph E, Kachara R, Bhattacharya RN, et al. Fibrous dysplasia of the orbit in an infant. Pediatr Neurosurg 2000; 32: 205-208). Herein, we present a rare case of fibrous dysplasia in an infant.     

Fibrous dysplasia of a third toe

Fibrous dysplasia is a benign disorder of bone, consisting of one or more foci of fibro osseous tissue within the matrix of the affected bone. Fibrous dysplasia usually effects the femur, tibia, ribs, and facial bones and is rarely seen in feet. An unusual case of fibrous dysplasia involving the third toe is presented.     

肋骨骨纤维异常增殖症2例

病例1．患者男．33岁。发现左侧前胸壁肿块,运动后自觉胸闷、不适10余年。触诊肿块不活动．有轻压痛。实验室检查未见异常。CT：左侧第3肋骨前端呈囊状膨胀性改变,约4．12cm×8．30cm,其内可见纤细的骨嵴（图1）,向胸内生长,相邻肺组织受压．周围皮肤隆起;骨皮质变薄周边硬化,未见骨膜反应及骨质破坏改变。行左侧第3前肋骨切除术。病理：镜下可见大量增生的纤维组织、骨样组织和新生骨小梁。诊断：肋骨骨纤维异常增殖症。     

Fibrous dysplasia of the clivus

The case of a 37-year-old man with monostotic fibrous dysplasia of the clivus is reported. This study includes clinical presentation, radiologic appearance, surgical findings, and pathology of this lesion. The significance of magnetic resonance imaging and management of this uncommon clival lesion are discussed.     

McCune-Albright综合征患者肾上腺大部切除术的麻醉处理

患者，女性，23岁，病程长，性早熟，有骨折病史。8个月前出现甲亢，皮肤有咖啡斑。影像学检查，蝶鞍增大，肾上腺结节。诊断McCune-Albright综合征。拟在全麻下行左肾上腺大部切除术。术前准备：（1）甲亢治疗：他巴唑5mg3次／d、普萘洛尔10mg／d。（2）骨质疏松处理：自服钙剂。（3）柯兴氏综合征处理：硝苯吡啶10mg3次／d、枸橼酸钾20ml3次／d。麻醉处理,静脉注射异丙酚150mg及琥珀酰胆碱100mg麻醉诱导；吸人氧气-N2O（1：2）及异氟醚，间断静脉注射维库溴铵和芬太尼维持麻醉。气管插管后血压上升至180／110minHg，间断静脉注射乌拉地尔10mg降低血压。探查肾上腺时，血压升至200／140minHg，持续静脉滴注硝酸甘油，血压逐渐降至120～130／80～90minHg，并保持至术终。切除肾上腺后，静脉缓慢滴注琥珀酸氢化可地松100mg。患者手术及术后拔除气管导管顺利，安全返回病房。     

骨纤维异常增殖症并发重度脊椎后凸畸形1例

正患者,男,20岁。胸腰背部后凸畸形伴双下肢麻木加重4个月。患者自诉12岁开始无明显诱因出现胸腰背部后凸畸形,呈进行性加重,局部无特殊不适,15岁时偶然出现腰背部无力,局部无明显畸形,始终未给予特殊治疗。近4个月前腰背部酸软无力伴双下肢麻木,遂到医院行胸腰段X线检查示(图1a,1b):T_(11)、T_(12)融合椎,L1椎体楔形变、L3棘突囊形变;Cobb角110°。来我院求进一步治疗,经门诊检查     

Fibrous dysplasia of the spine with sarcomatous transformation: a case report and review of the literature

Summary A fibrosarcoma is reported in the spine of a 53-year-old man with polyostotic fibrous dysplasia. There was no history of endocrine disturbances and no previous irradiation. Malignant transformation in fibrous dysplasia is rare. A review of the literature reveals 101 cases of malignant degeneration occurring in fibrous dysplasia. We believe that this is the first report of sarcomatous change arising in an area of fibrous dysplasia in the spine.     

Nephronophthisis-like nephritis associated with fibrous dysplasia of bone

Nephronophthisis is a chronic tubulointerstitial nephritis with autosomal recessive inheritance whose evolution to end-stage renal disease is insidious but constant. Fibrous dysplasia of bone is characterized by focal replacement of normal bone and marrow with abnormal bone and fibrous tissue. We report on a young boy initially diagnosed with fibrous dysplasia of bone, who underwent renal investigation because of treatment with pamidronate. He presented with mild proteinuria (albuminuria/creatininuria 19 mg/mmol) and decreased glomerular filtration rate (GFR) (79 ml/min per 1.73 m(2) body surface area) leading to kidney biopsy, which showed nephronophthisis-like lesions, but neither NPHP1 gene deletion nor UMOD (uromodulin) mutation were identified. No association between fibrous dysplasia of bone and nephronophthisis has yet been described. Nephronophthisis-like nephritis associated with fibrous dysplasia of bone might represent a possible new syndrome in the nephronophthisis and medullary cystic kidney disease complex. However, a fortuitous association between these two conditions is also possible.     

Fibrous dysplasia of the skull with increased vascularity in the angiogram

The case of a 12-year-old girl with fibrous dysplasia involving the cranial vault is presented. The external carotid angiogram demonstrated a dilated and beaded zygomatico-orbital branch of the superficial temporal artery, a faint tumor stain, and an early filling vein. The mass was moderately vascular at the operation and histological examination demonstrated no malignancy.     

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.     

Scoliosis and spine involvement in fibrous dysplasia of bone

Few studies focused on the prevalence of scoliosis and involvement of the spine in patients with fibrous dysplasia (FD) of bone. We examined for FD involvement of the spine and scoliosis in 56 patients affected by FD of bone. Fifty patients were part of a cohort reported in a multicentric study on FD promoted by European Pediatric Orthopedic Society (EPOS) in 1999, and six were new patients. There were 30 females and 26 males (mean age 12.5 years; range 1–42 years). Twenty-three had monostotic FD, 9 polyostotic FD, and 24 McCune-Albright Syndrome (MAS). Scoliosis was observed in 11 cases of polyostotic FD and MAS (33.3%). In seven of the patients with scoliosis (63.3%) spine was involved by FD lesional tissue. FD lesions involved the thoracic or lumbar spine in all patients but one, where cervical spine was also affected. A correlation between scoliosis and either spinal (p < 0.01) or pelvic lesions (p < 0.05) and pelvic obliquity (p < 0.01) was observed. Three of the 11 patients showed familiarity for scoliosis but in 2 of them spine was involved by FD. Scoliosis and spine involvement were never detected in monostotic FD. This study indicates that in FD patients with polyostotic disease (1) the prevalences of FD involvement of the spine and scoliosis are high enough to include spine in the clinico-radiographic survey of these patients, and (2) the involvement of the spine and pelvis by FD lesions and pelvic obliquity are important determinants in the occurrence of scoliosis.     

颅骨多发骨纤维异常增殖症1例

患者，女，48岁，13岁时开始出现无诱因的头疼，初期呈间歇性后逐渐加重，严重时头疼剧烈不能睡眠。在当地医院就诊未发现明显异常，只进行了对症治疗，15岁发现下颌骨异样改变，呈不对称性右恻外突。到积水潭医院就诊，诊断为右侧下颌骨纤维异常增殖症，因年龄小术后易复发而未治疗。20岁左右上颌骨出现与下颌骨相同之异样改变。直至30岁后病情出现稳定，但每年春季仍有轻度头疼症状。     

骨纤维结构不良中癌基因蛋白的表达及意义

了解骨纤维结构不良中癌基因蛋白的表达情况。方法应用免疫组化法对３７例骨纤维结构不良行多种癌基因蛋白检测。结果３７例实验组中ｃ－ｆｏｓ、ｃ－ｍｙｃ蛋白均有高表达（Ｐ＜０．０１）。ｒａｓｐ２１蛋白在该病恶变组中有高表达（Ｐ＜０．０５）。结论ｃ－ｆｏｓ、ｃ－ｍｙｃ蛋白过度表达在骨纤维结构不良的发生发展中起重要作用，ｒａｓｐ２１蛋白过度表达在该病的恶性变过程中起作用。本研究结果对骨纤维结构不良的诊断和治疗具有广阔的应用前景。     

Adamantinoma associated with fibrous dysplasia

Summary Three cases of adamantinoma of the tibia, seen in one hospital over a period of 7 years, are described. They illustrate the difficulty in differentiating this lesion from fibrous dysplasia on radiographic and histological grounds. Thermography may help in the differential diagnosis.

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Résumé Trois cas d'adamantinome du tibia ont été observés en 7 ans dans un même hôpital. Ils illustrent la difficulté qu'il y a à distinguer cette lésion de la dysplasie fibreuse en se fondant sur des arguments radiologiques et histologiques. La thermographie peut aider au diagnostic différentiel.

     

病灶清除、植骨联合内固定治疗下肢长管状骨纤维结构不良的疗效和并发症观察

背景：骨纤维结构不良临床上可表现为单发或多发的骨骼畸形、疼痛和病理性骨折。目前该病的治疗方法以手术清除病灶、植骨内固定为主。目的：探讨病灶清除、植骨联合髓外固定治疗下肢长管状骨纤维结构不良的疗效和可行性。方法方法：选取2010年2月至2012年11月我院收治的15例骨纤维结构不良患者的病例资料进行回顾性分析,男8例,女7例;年龄26-48岁,平均（32.1±1.2）岁;股骨9例,胫骨6例。均采用病灶清除,取髂骨植骨,动力髋螺钉或锁定接骨板固定。围手术期予抗炎、补液对症处理,术后石膏固定,指导患者功能锻炼。髋关节功能按Harris评分系统评定。膝关节功能按Merchan评分系统评定。术后定期摄X线片,观察肿瘤复发情况,植骨融合情况和不良反应发生情况。结果：所有伤口均甲级愈合,按期拆线。所有患者均完成18个月随访,无1例复发,植骨均融合,术后部分负重下地时间（4.3±0.6）个月,X线片未见骨溶解,术后（4.0±0.8）个月可见新生骨长入,2例患者残留手术区疼痛,对症治疗后缓解。术后髋关节功能Harris评分为97.2分,膝关节功能Merchan评分为95.8分,均较术前显著提高（P〈0.05）。结论：病灶清除、植骨联合髓外固定在下肢长管状骨纤维结构不良患者中固定可靠,预后佳,是一种可行的治疗方法。