Imaging characteristics of a rare case of monostotic fibrous dysplasia of the sacrum:A case report

BACKGROUND Fibrous dysplasia(FD)is a common benign intramedullary fibro-osseous lesion.Involvement of the spine is rare,with the literature including only case reports,and cases of monostotic FD(MFD)in the sacrum are extremely rare.A correct preoperative diagnosis of spinal MFD is important for clinicians to select proper treatment.CASE SUMMARY We retrospectively assessed a case report of MFD in the sacrum.This patient was examined by computed tomography(CT)and magnetic resonance imaging(MRI),and the diagnosis was confirmed by pathology.A review of the literature was performed to analyze the imaging characteristics and differential diagnoses of spinal MFD.For our patient,the CT scan showed the lesion to be expansile,with ground glass opacity and a sclerotic rim.On MRI,the lesion showed iso-low signal intensity on T1WI and iso-high signal intensity on T2WI.A low signal rim was found on T1WI and T2WI.Our patient was treated by posterior focal excision,decompression,bone grafting,fusion and pedicle screw fixation.A satisfactory result was achieved,with pain disappearance.No complications had occurred at the 1-year follow up.CONCLUSION MFD is an expansile osteolytic change.Ground glass opacity and a sclerotic margin are obvious characteristics.The lesion often involves the vertebral body and posterior element.Knowledge of these imaging characteristics of spinal FD could be helpful for diagnosis and prevent unnecessary procedures.

Imaging Diagnosis of Monostotic Fibrous Dysplasia in Thoracic and Lumbar Spine Vertebrae

The X-ray radiograph, CT scan and MRI appearance of 5 patients with pathologically proven fibrous dysplasia in thoracic and lumbar spine vertebrae were retrospectively analyzed. Plain radiographs, CT scans and MR images showed the presentation of eccentric lesion with intact cortex bone and marginal sclerosis in vertebral bodies without involvement of vertebral appendix and ex- traosseous soft tissue. The lesion masses were round （one being oval-shaped） and radiolucent in plain radiographs and CT scans. Homogeneous long signal was observed on Tl weighted image and strongly enhanced when gadolinium was administered. On T2 weighted MRI, short signal was found in the anterior part of the mass, long signal in the posterior part, and short and slight long signal in the middle part, without partitioning and laminating change. There was a good correlation between radiological features and surgical findings. These findings may be useful to diagnose fibrous dysplasia m spree.

Surgical treatment of femoral deformities in polyostotic fibrous dysplasia and McCune-Albright syndrome:A literature review

BACKGROUND Surgical correction of femoral deformities in polyostotic fibrous dysplasia(PFD)or McCune-Albright syndrome(MAS),such as coxa vara or shepherd’s crook deformity,is a challenge.AIM To evaluate the treatment of patients with femoral deformities caused by PDF or MAS treated by osteotomies and stabilized with different methods,by analyzing the most relevant studies on the topic.METHODS A literature search was performed in Medline database(PubMed).Articles were screened for patients affected by PFD or MAS surgically managed by osteotomies and stabilized with different methods.RESULTS The initial search produced 184 studies,with 15 fulfilling the eligibility criteria of our study.Selected articles(1987-2019)included 111 patients overall(136 femurs).CONCLUSION Based on our results,the preferred method to stabilize corrective osteotomies is intramedullary nailing with neck cross pinning.When the deformity is limited to the proximal part of the femur,a screw or blade plate may be used,although there is a high risk of fracture below the plate.When the femur is entirely involved,a two-stage procedure may be considered.

Discontinuous polyostotic fibrous dysplasia with multiple systemic disorders and unique genetic mutations:A case report

BACKGROUND Polyostotic fibrous dysplasia(PFD)is an uncommon developmental bone disease in which normal bone and marrow are replaced by pseudotumoral tissue.The etiology of PFD is unclear,but it is generally thought to be caused by sporadic,post-zygotic mutations in the GNAS gene.Herein,we report the case of a young female with bone pain and lesions consistent with PFD,unique physical findings,and gene mutations.CASE SUMMARY A 27-year-old female presented with unbearable bone pain in her left foot for 4 years.Multiple bone lesions were detected by radiographic examinations,and a diagnosis of PFD was made after a biopsy of her left calcaneus with symptoms including pre-axial polydactyly on her left hand and severe ophthalmological problems such as high myopia,vitreous opacity,and choroidal atrophy.Her serum cortisol level was high,consistent with Cushing syndrome.Due to consanguineous marriage of her grandparents,boosted whole exome screening was performed to identify gene mutations.The results revealed mutations in HSPG2 and RIMS1,which may be contributing factors to her unique findings.CONCLUSION The unique findings in this patient with PFD may be related to mutations in the HSPG2 and RIMS1 genes.

Comprehensive management of malocclusion in maxillary fibrous dysplasia:A case report

BACKGROUND Fibrous dysplasia(FD)is a developmental hamartomatous bone disease characterized by a blend of fibrous and osseous entities.Though rarely malignant,the tumor can vary from being small and asymptomatic,to a fairly large sized lesion,progressing gradually,compromising occlusion and facial esthetics.Treatment approach depends on the stage of skeletal maturity.It primarily involves surgical management for stabilizing the disease process.Post-surgical comprehensive dental treatment is necessary for restoring form and function of the jaws and teeth.This article describes comprehensive orthodontic management of severe malocclusion in a surgically operated case of FD maxilla.CASE SUMMARY A 19-year female presented with a chief complaint of excessive gingival display when smiling.Dental history included swelling of gums around the upper right front teeth,diagnosed at the age of 15 as FD of the right anterior maxillary segment and treated with surgical recontouring of the dysplastic bone.The clinical and radiological examinations showed adequate post-surgical healing.The surgically treated dysplastic area presented with right canting of the maxillary anterior occlusal plane.The maxillary teeth were torqued palatally,with the root of the right maxillary canine exposed clinically.We discuss sequential management of the associated malocclusion with comprehensive fixed orthodontics,along with special precautions taken to prevent reactivation of the quiescent and healed lesion.CONCLUSION The adequate healing of fibro-dysplastic bone post-surgery must be allowed before initiating orthodontic tooth movement in the dysplastic bone.Periodic follow-ups are needed to monitor stability of occlusion and any relapse of the lesion.

Surgery for fibrous dysplasia associated with aneurysmal-bone-cystlike changes in right proximal femur:A case report

BACKGROUND Fibrous dysplasia associated with aneurysmal bone cyst(ABC)-like changes in the right proximal femur has a low incidence.It is considered more difficult to make early diagnosis than for single fibrous dysplasia.CASE SUMMARY A 14-year-old woman was admitted because of persistent pain in the right hip and abnormal gait over the previous 2 mo.She had no history of present or past illness.Preoperative photography,enhanced computed tomography,and magnetic resonance imaging showed ground-glass appearance with cortical scalloping and expansion of the right proximal femur and femoral neck.Pathological examination by preoperative puncture biopsy revealed fibrous dysplasia of the right proximal femur.The patient was diagnosed with fibrous dysplasia based on medical history,physical examination,and results of laboratory,imaging and pathological examinations.According to final pathological examination,the patient was diagnosed with fibrous dysplasia of the right proximal femur associated with ABC.Curettage and allograft along with fixation of compression screws was performed for fibrous dysplasia associated with ABClike changes.No obvious allograft absorption,loosening of fixation,or secondary fracture were observed during 6-months’follow-up with re-examination by plain radiography and computed tomography.Fibrous dysplasia associated with ABClike changes in the right proximal femur has a low incidence and early diagnosis is considered more difficult than for single fibrous dysplasia.CONCLUSION We report a cases of fibrous dysplasia associated with ABC-like changes in the right proximal femur treated with curettage and allograft along with hip compression screws.

Endoscopic Management in Fibrous Dysplasia of Ethmoid Sinus:One Case Report and Literatures Review

Introduction Fibrous dysplasia （FD） is a sporadic real bone structures and marrow are skeletal disorder in which norreplaced by fibro-osseous tissuet. It is classified into three types： monostotic FD, polyostotic FD, and McCune-Albright syndrome. The monostotic is the most common form of FD. The disease primarily affects the long bones of the patients, and may also develop in the craniofacial region. However, FD in the paranasal sinuses is uncommon. The case in this report was diagnosed as FD in the ethmoid sinus which is a rarely seen case.

Fibula allograft transplantation combined with locking plate for treatment of recurrent monostotic fibular fibrous dysplasia:A case report

BACKGROUND Fibrous dysplasia is a congenital disorder in which normal bone is replaced by fibro-osseous tissue or irregular trabeculae of woven bone intermixed with mature collagenous tissue.A single or multiple bones are affected.This rare bone disorder has three clinical patterns including monostotic,polyostotic,and that associated with McCune-Albright syndrome.Most studies report primary fibrous dysplasia.However,a few cases of recurrent monostotic fibular fibrous dysplasia have been reported.Here,we report a therapeutic strategy for recurrent fibular fibrous dysplasia.CASE SUMMARY A 4-year-old boy was admitted for persistent pain in the left lower limb and abnormal gait over the previous 9 mo.He had no history of present or past illness.Preoperative imaging data showed erosion-like changes with bone expansion of the left middle and lower fibular segment.Tumor tissue in the fibular bone marrow cavity was removed by curettage,and rapid intraoperative pathological examination suggested fibular fibrous dysplasia.An allograft was implanted into the fibular medullary cavity.However,he was readmitted with clinical symptoms including persistent pain,abnormal gait,and local swelling at the age of 6 years.He was diagnosed with recurrent fibular fibrous dysplasia based on the second medical examination.He underwent fibular bone tumor radical resection and longus fibular allograft transplantation combined with fibular bone locking plate and screws.Good host bone to allogenic bone graft fusion was observed by the physician on postoperative regular follow-up.CONCLUSION Radical resection of fibrous dysplasia and longus fibula allograft combined with internal fixation for reconstruction are suitable for the treatment of recurrent monostotic fibular fibrous dysplasia.

Surgical Management of 4 Cases of Craniofacial Fibrous Dysplasia

Background: Fibrous dysplasia is an uncommon skeletal disorder in which normal bone and marrow are replaced with fibro-osseous tissue. The disease comprises 2.5% of all bone tumors and 7.5% of all benign bone neoplasm. It is the progressive, slowly developing disease and the optimum treatment remains unclear in many cases. Aim: In this study, the authors report their experience in the surgical treatment of four cases of craniofacial fibrous dysplasia. Cases presentation: The study involved 4 patients with craniofacial fibrous dysplasia. There were 3 men and a woman. The patients were 10, 17, 20 and 8 years old. No patient had a focal neurological deficit. The CT scan appearance was compatible with Fibrous dysplasia in all patients. The site of disease was frontal in one case and parietal in the other 3 cases. Cosmetic surgical treatment was performed in all patients. Cranioplasty was performed in one patient and planned for the other three. Conclusion: Fibrous Dysplasia is a benign slow growing disease that may cause as well as clinical symptom and aesthetical discomfort. Radical resection, if possible, is the only technique to obtain resolution of the disease.

Surgical Treatment of Monostotic Craino-Facial Fibrous Dysplasia: Changing the Narratives

Background: Fibrous dysplasia mainly presents in its monostotic form in the cranio-facial region with serious cosmetic disfigurement and functional derangement of the affected and adjacent structures putting both patient and the attending surgeon in great dilemma. Surgical treatment is the only rewarding and generally accepted treatment option, however, controversy over the surgical technique to be adopted still exists. While in the past, surgeons generally adopted conservative shaving or contouring technique, over the recent years, advocates of radical surgery are winning more disciples. Objective: To highlight the locally destructive, functionally degrading nature of a neglected or poorly excised (shaved) lesion in patients and highlight the outcome of total excision and surgical technique adopted to obviate the need for autologous bone grafting and two-staged surgery. Subjects and Method: We present case series of three patients with giant monostotic fibrous dysplasia of the maxilla, surgically treated in our Centre, who were part of a total of eight cases managed over the past fifteen years in our department of Ear, Nose and Throat-Head and Neck Surgery. The pre-operative clinical assessment, relevant investigations and post-operative outcome are presented. Our surgical technique is highlighted. All the patients had unilateral lesion of the maxilla with gross cosmetic and functional defects. Two of the patients had ischaemic (pressure) atrophy of the cheek soft tissue and skin leading to skin metaplastic changes including leukoplakia, hyperpigmentation. Post-operative follow-up showed satisfactory cosmetic outcome and significant reversal of malocclusion and dental anarchy. There was no recorded recurrence throughout the follow-up period ranging from four to eleven years. Nasal airway was re-established bilaterally in all the cases. Conclusion: Total or near total excision surgical technique with periosteal preservation is our treatment of choice in the management of monostotic cranio-facial fibrous dysplasia. Given the fact that the growth of the tumours often does not cease after puberty against general belief, shaving or contouring technique should be relegated to the background. Our technique of no grafting which reduced cost and morbidity to the patient should be encouraged.

Low-grade central osteosarcoma of distal femur, resembling fibrous dysplasia

We report a case of a 32 year-old male, admitted for a lytic lesion of the distal femur. One month after the first X-ray, clinical and imaging deterioration was evident. Open biopsy revealed fibrous dysplasia. Three months later, the lytic lesion had spread to the whole distal third of the femur reaching the articular cartilage. The malignant clinical and imaging features necessitated excision of the lesion and reconstruction with a custom-made total knee arthroplasty. Intraoperatively, no obvious soft tissue infiltration was evident. Nevertheless, an excision of the distal 15.5 cm of the femur including 3.0 cm of the surrounding muscles was finally performed. The histological examination of the excised specimen revealed central low-grade osteosarcoma. Based on the morphological features of the excised tumor, allied to the clinical findings, the diagnosis of low-grade central osteosarcoma was finally made although characters of a fibrous dysplasia were apparent. Central low-grade osteosarcoma is a rare, well-differentiated sub-type of osteosarcoma, with clinical, imaging, and histological features similar to benign tumours. Thus, initial misdiagnosis is usual with the condition commonly mistaken for fibrous dysplasia. Central low-grade osteosarcoma is usually treated with surgery alone, with rare cases of distal metastases. However, regional recurrence is quite frequent after close margin excision.

Characteristic Radiological and Histological Patterns of Fibrous Dysplasia and Ossifying Fibroma of the Jaws at University of Nairobi Dental Teaching Hospital

Objective: To characterize the diagnostic features of ossifying fibroma (OF) and fibrous dysplasia (FD) of the jaw bones. Study Design: A histopathological and radiological analysis with full clinical documentation. Setting: University of Nairobi Dental Teaching Hospital (UNDH). Study Population: All archival cases diagnosed as FD and OF from 1992-2006 were retrieved from the UNDH Oral Pathology Laboratory records. New cases were included as they pre-sented over a 6-month period from January to June 2007. Methodology: Information regarding the histological type of a fibro-osseous lesion (FOL) including the clinical features, demographic and radiographic data was documented for analysis;and comparison between pathological parameters and the final diagnosis was evaluated with the chi-square test. Results: FD lesions constituted 40 (27.2%) cases while 107 (72.8%) were OF. The age ranged from 1 - 72 years (mean = 24.19 ± SD 13 years). The differences in the gender distribution were not statistically significant. Radiographic analyses showed statistically significant differences between the appearances of the body (p = 0.012) and the margins (p = 0.003) of FD and OF. The microscopic differences between the two lesions were not statistically significant. Conclusion: Differentiation between FD and OF is only possible after critically analyzing the clinical, radiological and histological criteria.

Treatment of Craniomaxillofacial Fibrous Dysplasia

Fibrous dysplasia is a benign osseous disease, although radical resection is commonly recommended because of the possibility of recurrence or malignant change. However, radical resection is undesirable, particularly in the maxillofacial region, because facial bones are difficult to replace in an aesthetically-pleasing manner after radical excision. In our department, conservative shaving, as reported by Chen and Noordhoff, is used to reduce tumor volume while maintaining facial aesthetics that are as normal as possible. We have experienced eight cases of craniomaxillofacial fibrous dysplasia and successfully applied conservative shaving to the maxillofacial lesions. These cases have exhibited no recurrence, and their facial contours have improved remarkably.

Post-traumatic cerebrospinal fluid rhinorrhea associated with craniofacial fibrous dysplasia:Case report and literature review

Objective: Fibrous dysplasia(FD) is an unusual developmental abnormality of the skeleton. When facial and cranial bones are involved in FD, it is termed craniofacial fibrous dysplasia(CFD). Although several reports have reported that CFD has a tendency for spontaneous cerebrospinal fluid(CSF) leakage, there have been no related English-language case reports. We present the first case of post-traumatic CSF rhinorrhea associated with CFD. Methods: A 30-year-old man presented with CSF rhinorrhea after a mild head trauma. Computed tomography cisternogram located a defect in the posterior wall of the right frontal sinus. Imaging examination also showed the evident expansion of multiple skull bones, spinal scoliosis, and multiple local enlargements of ribs.Without café-au-lait cutaneous spots and endocrine abnormalities, polyostotic FD was diagnosed instead of Mc Cune-Albright syndrome(MAS). The patient underwent craniotomy fistula repair surgery. The excised bone was contoured to be thinner to increase the cranial cavity. The patient recovered well and CSF leakage did not recur.But during a nineteen-month follow up, sight in the patient's left eye was decreased.MAS was suspected. Unfortunately the patient refused to take the proposed decompression surgery and laboratory tests of serum hormones. Conclusions: CFD, if the wall of the paranasal sinus is involved and the cranial cavity is decreased, may increase the risk of CSF rhinorrhea after head trauma.Expectant management is recommended in asymptomatic CFD patients even in the presence of optic nerve compression. As MAS may cause more problems, it should be precluded before polyostotic FD is diagnosed.

Survival of dental implants in patients with bone dysplasia:A systematic review

Objective:This study used published studies to assess the survival rate of dental implants placed in patients with bone dysplasia of the maxillofacial region.Material and methods:An electronic search without a specified date range was performed using the MEDLINE,PubMed,EMBASE,Web of Science,and Cochrane databases.No gender or age restrictions were applied.Results:Eighteen publications were found that met the study’s criteria,reporting data on 18 patients with bone dysplasia including cleidocranial dysplasia(CDD),fibrous dysplasia(FD),florid cemento-osseous dysplasia(FCOD),and odonto-maxillary segmental dysplasia(SOMD),who received a total of 130 implants,an average of 7.2 implants/patient(range 1 to 16).The mean age of the patients was 36.7 years(range 15 to 70 years).For implants placed in bone dysplasia,the survival rates were 100% for patients with CDD(n=8),FD(n=5),SOMD(n=2),FCOD with implants inserted far from the lesions(n=2)and 0% for dental implants inserted within FCOD(n=1).The mean follow-up was 38.2 months(min 6,max 60).Conclusions:Dental implants placed in patients with dysplastic bone lesions show high survival rates,similar to those in the general population for CDD,FD,and SOMD.For FCOD,the failure rate was 100%.

Benign Fibrous Histiocytoma of the Neurocranium

Presented is a case of benign fibrous histiocytoma (BFH) involving the calvarium of a 25 years old lady who noticed a depression in her occiput associated with localised pain. Imaging revealed a tumour eroding through the inner and outer skull tables, closely associated with major underlying dural sinuses. She underwent complete macroscopic resection of the tumour and reconstruction of a titanium mesh cranioplasty. Histology favoured a benign process with a diagnosis of BFH of the calvarium given. At 1 year follow-up, the patient is asymptomatic and has not developed recurrence of the tumour.

Mazabraud’s syndrome in female patients:Two case reports

BACKGROUND Mazabraud’s syndrome(MS)is a rare and slowly progressive benign disease characterized by the concurrent presence of fibrous dysplasia of bone and intramuscular myxoma,and is thought to be associated with mutations of the GNAS gene.To date,only about 100 cases of MS have been reported in the literature,but its standard treatment strategy remains unclear.CASE SUMMARY We report two cases of MS in young women who underwent different treatments based on their symptoms and disease manifestations.The first patient,aged 37,received internal fixation and intravenous bisphosphonate for a pathological fracture of the right femoral neck,excision of a right vastus medialis myxoma was subsequently performed for pain control,and asymptomatic psoas myxomas were monitored without surgery.Genetic testing confirmed a GNAS gene mutation in this patient.The second patient,aged 24,underwent right vastus intermedius muscle myxoma resection,and conservative treatment for fibrous dysplasia of the ilium.These patients were followed-up for 17 months and 3 years,respectively,and are now in a stable condition.CONCLUSION Various treatments have been selected for MS patients who suffer different symptoms.The main treatment for myxomas is surgical resection,while fibrous dysplasia is selectively treated if the patient experiences pathological fracture or severe pain.However,given the documented instances of malignant transformation of fibrous dysplasia in individuals with MS,close follow-up is necessary.

RUNX2调控牙釉质及牙周组织结构的研究进展

在牙釉质分泌期及成熟期,成釉细胞容易受到多方面因素干扰,致使不同程度的牙釉质发育不良。Runt-相关转录因子2(RUNX2)通过调节釉质蛋白基因转录、影响釉基质蛋白降解,对牙釉质的成熟矿化具有不可忽略的影响。本文就RUNX2参与调控牙釉质成熟矿化作用作一综述,并提出RUNX2基因缺陷对牙周组织的潜在破坏作用,为未来牙釉质发育不良疾病的研究及防治提供方向。

额-眶-蝶骨纤维结构不良的经颅视神经减压术

为探讨因额 眶 蝶骨纤维结构不良致视力进行性下降经颅做视神经减压术的临床效果 ,作者对收治的 2 5例次患者进行了回顾性研究。结果显示 ,术后 1周 ,2 1例次患侧眼视力改善和稳定 ,4例次视力减退。视力减退的 4例次中有 3例次患侧眼术前视力接近失明。18例次获得有效随访 ,随访时间 2～2 2年 ,平均 6年 ,视力再减退的仅 3例次。研究结果表明 ,经颅做视神经减压术挽救视力是额 眶 蝶骨纤维结构不良致视力进行性下降的有效的手术治疗方法 。

颅骨骨纤维结构不良的诊断和治疗

目的探讨颅骨骨纤维结构不良的诊断和治疗。方法回顾性分析33例经病理证实为颅骨骨纤维结构不良病例的临床资料,探讨其手术原则及其疗效。结果33例颅骨骨纤维结构不良患者中,男13例,女20例;年龄6～58岁,其中小于18岁者15例。该病常见累及额骨、筛骨、蝶骨,其主要临床表现为头痛、局部肿物、眼球突出、视力障碍、面部畸形等。X线平片及CT检查主要表现为局部骨密度增高,出现占位效应。病灶位于颅骨一侧皮质者,边界清楚,可有硬化;而病灶在骨髓腔内者,则多边界不清。CT增强扫描可见病灶明显强化,密度不均匀。MRI检查骨纤维结构不良信号呈多样性,无特异性,因此MRI对其的诊断意义不大。术后随访,33例患者经手术治疗后临床症状均有改善,2例复发。结论该病多见于儿童和青少年,女性较男性多见。外科手术为颅骨骨纤维结构不良的主要治疗手段,早期积极手术可使骨质愈合良好,缓解症状,改善预后。