[Osteosarcoma Secondary to Polyostotoic Fibrous Dysplasia of the Ribs].

Sarcomatous transformation of fibrous dysplasia is extremely rare. We present the case of a 54-yearold man with multiple rib masses, multiple enlarged lymph nodes throughout the body, and multiple osteolytic lesions on computed tomography( CT). A positron emission tomography( PET) scan showed abnormal enhancement in each. A needle biopsy of the right supraclavicular fossa lymph node revealed sarcoidosis. Considering the possibility of malignancy associated with sarcoidosis, a rib tumor resection and mediastinal lymph node biopsy were performed to confirm the diagnosis of the rib lesion. The pathology results showed that the rib mass was a low-grade central osteosarcoma and the mediastinal lymph node was sarcoidosis. The distribution of the lesions was consistent with osteosarcoma secondary to multiple fibrous bone dysplasia. As the osteosarcoma was low grade, the patient was followed up. Three years after surgery, there was no increase in residual disease.

Craniofacial Fibrous Dysplasia: Experience at San José Hospital, Bogotá, Colombia.

INTRODUCTION: Fibrous dysplasia is a disorder in which normal bone is gradually replaced by immature fibro-osseous tissue, with an incidence of less than 7% of all benign bone tumors. The management of this disease is a challenge for plastic surgeons and neurosurgeons. GOAL: To describe the diagnostic, therapeutic, and outcome approach of patients with craniofacial fibrous dysplasia seen at the Plastic Surgery Service of the Hospital San José in Bogotá, Colombia. METHODS: This is a descriptive and retrospective case series study of patients diagnosed with monostotic and polyostotic fibrous dysplasia treated at the Plastic Surgery Department of Hospital San José during the period from January 1, 2010, to July 31, 2023. RESULTS: All (n=10) of the patients had monostotic craniofacial fibrous dysplasia. The most affected bones in patients with monostotic fibrous dysplasia were zone I bones (n=10, 100%), followed by zone II bones (n=2, 20%). Patients with zone I and II involvement manifested throbbing headaches associated with phosphenes and tinnitus (n=8, 80%) and pain during occlusion associated with edema in the affected cheek (n=5, 50%). Physical examination showed that patients with orbital wall involvement (zone I bone) had ocular dystopia (n=7, 70%).Regarding the treatment received by the patients, 90% (n=9) of the patients received surgical management as primary treatment, with orbitotomy, replacement, and/or remodeling of the roof and lateral wall of the orbit with bone graft, drilling, canthoplasty, ciliary suspension being the most frequently performed procedure (n=6, 60%). Of the patients, 20% (n=2) required reintervention. CONCLUSIONS: FD is a slowly progressive benign fibro-osseous disease that requires a timely, individualized, and multidisciplinary diagnosis and treatment to obtain favorable clinical and surgical results.The mainstay of treatment is surgery as a preventive measure since it is important to avoid future functional alterations that, depending on the location of the dysplasia, would cause a high risk of alteration of adjacent structures.

RANK-L inhibitor as a promising agent for refractory extensive craniofacial fibrous dysplasia: A case report.

BACKGROUND: McCune-Albright syndrome is a rare disorder characterized by polyostotic fibrous dysplasia (FD), café-au-lait skin pigmentation, and endocrine dysfunction. Extensive FD in the craniofacial region can present significant challenges in terms of disease control and carries a high risk of permanent visual impairment. METHODS: We present a case of medically and surgically resistant FD that required nine optic nerve decompressions. RESULTS: The condition was ultimately controlled with the use of the denosumab agent. CONCLUSION: The case highlights the importance and potential efficacy of denosumab in resistant FD management, particularly in cases involving sensitive organs.

Case Report Of Rib Polyostotic Fibrous Dysplasia.

Polyostotic fibrous dysplasia is a rare benign asymptomatic tumour of the ribs not requiring surgery on most occasions. We present here a case with left 10th and 11th rib fibrous dysplasia which was causing a hinderance to the Urologist for renalstone extraction. Therefore the 10th and 11th ribs were excised followed by chest wall reconstruction.

Lower-limb intramedullary nailing in patients with polyostotic fibrous dysplasia who had a previous unsuccessful treatment. A report of 48 cases.

BACKGROUND: Intramedullary nailing (IN) seems to be the best primary surgical treatment for patients with either polyostotic fibrous dysplasia or McCune-Albright syndrome (PFD/MAS) when the femur and tibia are totally affected by fibrous dysplasia (FD) and pain, fracture and deformity are likely to occur. However, other management protocols have been applied in these cases, often leading to disabling sequelae. This study sought to evaluate if IN could also have been effective as a salvage procedure to provide patients with satisfactory results, regardless of the poor results due to the improper treatment previously performed. MATERIALS AND METHODS: Twenty-four retrospectively registered PFD/MAS patients with 34 femurs and 14 tibias totally affected by fibrous dysplasia had received various treatments with unsatisfactory results in other institutions. Before the IN performed in our hospital, 3 patients were wheelchair bound; 4 were fractured; 17 limped; and many used an aid for walking. Salvage IN was performed in our hospital at a mean patient age of 23.66 ± 6.06 years (range, 15-37 years). The patients were evaluated before-except for the four fractured ones-and after IN using the validated Jung scoring system, and the data were statistically analyzed. RESULTS: The mean length of follow-up after IN was 9.12 ± 3.68 years (range, 4-17 years). The patients' mean Jung score significantly improved from 2.52 ± 1.74 points before IN to 6.78 ± 2.23 at follow-up (p < 0.05). Ambulation was improved in ambulatory patients and restored in wheelchair users. The complication rate was 21%. CONCLUSIONS: Regardless of the high rate of complications, IN may be considered a reliable surgical procedure to salvage a failed treatment in PFD/MAS, with long-lasting satisfactory results achieved in most patients. Trial registration statement: Not applicable. LEVEL OF EVIDENCE: IV.

A Novel Bone Contouring Technique Using Multiple Tangential Shaving for Conservative Management of Craniofacial Fibrous Dysplasia.

This study aimed to propose a novel surgical technique, named multiple tangential shaving of bone contour, for the conservative management of craniofacial fibrous dysplasia. We retrospectively reviewed 17 patients who underwent conservative management of craniofacial fibrous dysplasia using multiple tangential shaving technique between July 2005 and December 2020. Demographics, tumor characteristics, and surgery-related factors were investigated. All patients underwent preoperative (T0) and postoperative computed tomography scans taken at least twice within 1 month for immediate assessment (T1) and at least 12 months postoperatively for long-term assessment (T2). Clinical outcomes, including tumor recurrence, perioperative complications, and physician measure of esthetic outcomes (Whitaker score), were investigated. This technique was applied for contouring of the zygomatic-maxillary and calvarial bone for patients aged between 16 and 60 years (mean age: 26 y). The mean±SD tumor volume reduction was 15.5±8.95 cm 3 , and the postoperative mean±SD tumor growth rate was 5.52±6.26% per year. Satisfactory outcome was obtained in terms of esthetics with a mean±SD Whitaker score of 1.41±0.62. Patients required a mean operation time of 1.67±0.43 hours and a mean number of shaving operations of 1.35±0.61 during the follow-up period. Five of 17 patients required reoperation because of the tumor recurrence (N=4) and to correct new-onset diplopia after surgery (N=1). In conclusion, the multiple tangential shaving technique allows an easy approach for conservative management of craniofacial fibrous dysplasia. An acceptable rate of tumor recurrence and esthetic outcomes can be obtained by selecting the appropriate candidate for a conservative approach.

Craniofacial Fibrous Dysplasia of the Skull Assisted by Virtual Surgical Planning.

Craniofacial fibrous dysplasia (FD) involves thickening of the skull and facial bones, causing asymmetry and distortion of overlying soft tissues. Surgical contouring is often performed with rotary bur or osteotome, with the goal of matching contralateral unaffected anatomy. This is made technically challenging by having no direct visualization of contralateral structures, and the desire to control depth of resection to match the contour of the unaffected side. In our report, a 13-year-old male presented for surgical evaluation of craniofacial FD affecting the right parietal/temporal bones. A novel virtual surgical planning approach of premade drilling template with numerous pilot guide holes was used to assist bone debulking. The pilot holes allowed precise burring of the dysplastic bone. The patient achieved excellent calvarial contour symmetry without unintended intracranial extension. We believe that virtual surgical planning and drilling depth guides are effective tools in the reconstruction of craniofacial FD.

[The experience of interdisciplinary interaction in elimination of midface deformation (clinical observation)]. / Opyt mezhdistsiplinarnogo vzaimodeistviya pri ustranenii deformatsii srednei zony litsa (klinicheskoe nablyudenie).

Fibrous dysplasia is a hamartoma appearing as a benign pathologic process in which normal bone tissue formation is replaced by overgrowth of fibrous connective tissue. The problem of diagnosis and treatment of patients with fibrous dysplasia remains unsolved in the absence of a uniform understanding of its etiology and pathogenesis. Treatment and rehabilitation of patients with midface fibrous dysplasia is a complicated medico-social problem, which requires interaction of specialists of different fields to resolve it. The disease presents a practical interest for doctors of more than 20 specialties, as it can lead to disability. The present article describes a clinical case of interdisciplinary interaction of specialists in the fields of maxillofacial surgery, ophthalmology, otorhinolaryngology, plastic surgery and radiology involved in complex treatment of a patient with midface fibrous dysplasia accompanied by eyeball dislocation, decreased vision, as well as progressive impairment of nasal breathing function. The performed treatment resulted in favorable functional and aesthetic outcomes including elimination of exophthalmos, vertical strabismus, lacrimation disorders, nasal breathing disorders, increase of visual acuity and improvement of external appearance.

Long-term imaging course of Chiari malformation type I due to fibrous dysplasia/McCune-Albright syndrome.

INTRODUCTION: McCune-Albright syndrome (MAS) and fibrous dysplasia (FD) have been reported to cause Chiari type I malformation (CM1) and skull base invagination (BI). CASE: A 6-year-old girl was diagnosed with MAS and FD. She was diagnosed with CM1 at age 8 years, and the syringomyelia had gradually increased by age 20 years. We performed foramen magnum decompression and C1 laminectomy, and the syringomyelia stopped spreading after surgery. DISCUSSION: This patient underwent long-term radiological observation and morphological evaluations, which revealed that the skull thickening was progressing, while the posterior cranial fossa volume (PCFV) remained unchanged for 14 years. Therefore, although PCFV did not decrease, it was considered to be relatively inadequate due to the increase in brain volume with growth, resulting in posterior fossa overcrowding, causing CM1. CONCLUSION: In patients with FD/MAS, long-term evaluation of bone thickening, odontoid position, and PCFV is necessary.

Surgical management of syndromic versus non-syndromic craniofacial fibrous dysplasia: a systematic review and meta-analysis.

The main purpose of this study was to identify an algorithm for the surgical management of fibrous dysplasia in syndromic (McCune-Albright syndrome) and non-syndromic patients (monostotic and polyostotic subtypes). The secondary objectives were to assess the prevalence of affected craniofacial bones and the main clinical presentation. The authors performed a systematic review and meta-analysis by conducting a comprehensive electronic search from 1 January 2000 to 31 December 2019. A total of 1260 patients were included. The maxilla was the most affected facial bone (41%) (p<0.001, CI 38.3 to 43.8) and facial asymmetry was the chief complaint (p<0.001, CI 31.7 to 37.1). Conservative surgery registered higher recurrence rates than radical resection in both syndromic (84%) (p<0.001, CI 70.9 to 92.8) and non-syndromic patients (26%) (p<0.001, CI 21.8 to 30.6). Compared with prophylactic decompression, therapeutic optic nerve decompression (OND) showed better postoperative outcomes in both syndromic (p=0.9, CI 18.6 to 55.9) and non-syndromic patients (p=0.09, CI 9.3 to 28.4). Watchful waiting showed excellent results in both subgroups when asymptomatic (p<0.001). Syndromic and non-syndromic patients share the same treatment strategies. Radical resection is the preferred surgical technique to eradicate the disease, but it is often difficult to perform due to the extent and location of the disease. Furthermore, the authors advise early therapeutic over prophylactic OND to prevent optic nerve atrophy. Asymptomatic patients should be managed expectantly. Finally, medical management helps reduce the symptoms of bone pain (p=0.02 in non-syndromic and p<0.001 in syndromic patients).

Intramedullary Nailing for Lower Limb Polyostotic Fibrous Dysplasia in Children: A Long-term Follow-up Study.

BACKGROUND: In children, intramedullary nailing (IN) has been proposed as the best treatment when the femur and tibia are totally affected by fibrous dysplasia (FD). However, in younger children IN must be repeated to maintain stabilization of the affected skeletal segment during growth. We report the long-term results in a cohort of patients in whom more than two-thirds of cases had IN repeated during growth. METHODS: Twenty-nine femurs and 14 tibias totally affected by FD were treated by IN in 21 patients with polyostotic FD and McCune-Albright syndrome. Thirteen patients with 35 femoral and tibial deformities had a painful limp whereas 8 presented fractures. The patients had their first IN at a mean age of 9.26±2.68 years (range: 4 to 14 y). IN was repeated during growth in the younger patients, and all the patients underwent a mean of 2.13 femoral and 1.50 tibial IN per limb. The last IN was performed at a mean age of 16.42±1.95 years (range: 11 to 19 y). Titanium elastic nails and adult humeral nails were used in younger children, whereas adult femoral cervicodiaphyseal and interlocking tibial nails were used in older children and adolescents. At the latest follow-up, the patients were evaluated with a clinicoradiographic scale. All the data were statistically analyzed. RESULTS: The mean length of follow-up from the last IN was 6.47±3.10 years (range: 3 to 14 y), and the mean age of the patients at follow-up was 22.85±3.53 years (range: 14 to 29 y) when lower limbs were fully grown in all but 1 patient. Satisfactory long-term results were obtained in about 81% of our patients, while complications occurred in 32.5% of the 43 cases. CONCLUSION: Lower limb IN-that was repeated in younger children during growth-provided satisfactory long-term results in most of our patients, with fracture and deformity prevention and pain control, regardless of the high rate of complications that mainly affected the femoral cases. Missing scheduled follow-ups was the main predictor of a poor result. LEVEL OF EVIDENCE: Level IV-case series.

Extensive Polyostotic Craniofacial Fibrous Dysplasia With Optic Nerve Impingement.

ABSTRACT: Fibrous dysplasia is a benign overgrowth of metaplastic fibrous material resulting in disorganized deposition of bony matrix. Surgical intervention is the primary treatment modality. Here the authors present the case of a 36-year-old male with extensive and severe fibrous dysplasia of the calvarium, orbit, sphenoid, and facial bones causing significant facial distortion and impingement of his optic nerve. Combined operative treatment with craniofacial plastic surgery and neurosurgery was performed. Repair consisted of extensive intra- and extracranial resection and contouring of involved bones followed by reconstruction of the superior orbital rims, forehead, orbital roof, and calvarium with custom polyetheretherketone (PEEK) implant. The authors discuss the advantages of using computer assisted design/modeling, intraoperative neuronavigation, and custom prosthetic cranioplasty for surgical treatment of extensive fibrous dysplasia; a review of the current surgical literature is provided.

Increasing serum alkaline phosphatase is associated with bone deformity progression for patients with polyostotic fibrous dysplasia.

BACKGROUND: Fibrous dysplasia (FD) is a rare bone disorder in which normal intramedullary bone is replaced by fibro-osseous tissue, which is complicated by the progression of Shepherd's crook deformity. How to predict the progression of Shepherd's crook deformity is still a challenging for the orthopedic surgeon. METHODS: A total of 159 cases were reviewed in the retrospective study between January 2000 and September 2016. Clinical and monitoring data were collected. We analyzed the correlationship between the bone turnover markers and other parameters (age, gender, FD type, deformity, BMI, and lesion location). RESULTS: Age, gender, lesion location, lesion type, and shepherd's crook deformity had a close relationship with preoperative ALP level in the univariate analysis, and the multivariate analysis showed age, gender, lesion type, and shepherd's crook deformity had the significant relationship with the preoperative serum ALP level. The surgery could remove the bone lesion and suppressed the abnormal bone metabolism. Furthermore, the preoperative ALP level of FD patients with the shepherd's crook deformity was obviously higher than that without deformity, and the preoperative calcium and phosphorus levels of FD patients with deformity were significantly lower than that without deformity. Notably, for some patients with progression of the shepherd's crook deformity during the follow-up, ALP increased to the high level and at that time X-ray showed the shepherd's crook deformity severely progressing. CONCLUSIONS: PFD with higher serum ALP level has obvious tendency to progress severely, and risk factors of progression to the deformity are the condition of bony metabolism and FD type. The deformity of PFD may be related to high speed of bone turnover, which is exactly reflected by the levels of serum ALP and calcium. Evaluation of patients with FD should include a thorough evaluation of calcium/phosphate metabolism and bone turnover.

The Role of Staged Cryosurgery and Three-Dimensional Computed Tomography Integrated Navigation System in the Surgical Management of Severe Involvement of Craniofacial Polyostotic Fibrous Dysplasia.

Fibrous dysplasia (FD) is a developmental bone disorder caused by the hamartamatous proliferation of bone-forming cells. A 29-year-old male patient with diagnosis of FD was admitted to our clinic with the symptoms of severe craniomaxillofacial involvement of FD beginning from last year. Neurological examination revealed diplopia, horizontal nystagmus, conductive hearing loss, and partial vision loss. In his medical history, it was reported that he had undergone intramedullary nailing operation in his left femur due to a pathological fracture approximately 8 years ago in the orthopedics clinic of our institution. The patient underwent 3 consecutive surgeries by our plastic and neurosurgical team. The patient was followed-up in the neuro-intensive care unit between the surgical sessions and 1 week after the last operation. Afterwards, he was transferred to the neurosurgical department. No postoperative complication was detected. The preoperative signs were recovered. During his 6th month follow-up control-visit, all his preoperative symptoms were improved. In addition, the patient was satisfied with his postoperative cosmetic improvement. In conclusion, virtual surgical planning and intraoperative surgical navigation systems can make the challenging cases possible to operate with increasing the safety margin of the surgical procedures for polyostotic FD.

Bilateral Dysplastic Gangliocytoma with Concurrent Polyostotic Fibrous Dysplasia: A Case Report and Literature Review.

BACKGROUND: Dysplastic gangliocytoma is a sporadic cerebellar benign tumor with the characteristics of hamartoma and true tumor, also known as Lhermitte-Duclos disease (LDD). Bone fibrous dysplasia (FD) is a slowly progressive self-limited benign bone tissue disease. Cowden syndrome, an autosomal dominant genetic disorder caused by germline mutations in the PTEN gene, is considered to be closely related to dysplastic gangliocytoma. McCune-Albright syndrome is a disease characterized by café-au-lait skin macules, polyostotic FD, and precocious puberty. The etiologic mechanism of both conditions is not yet clear. We report a rare case of bilateral dysplastic gangliocytoma with concurrent polyostotic FD. CASE DESCRIPTION: We describe a 16-year-old boy with both LDD and FD. He presented for medical examination with headache and poor eyesight. Magnetic resonance imaging revealed proliferation of the skull and abnormal signals in the cerebellum, and supratentorial hydrocephalus. Subtotal resection of the cerebellar tumor was performed, and the diagnosis of LDD and FD was confirmed by histopathology. No other abnormal changes were found in systemic medical examination and no PTEN gene mutation was found in the genetic analysis; therefore, the diagnoses of Cowden syndrome and McCune-Albright syndrome were excluded. CONCLUSIONS: LDD and FD are 2 rare diseases, and the simultaneous occurrence of the 2 conditions has not been reported before, to our knowledge. Our report challenges the etiology of the 2 diseases and the relationship between them, hoping to provide a reference for the study of the 2 diseases.

Jawbone fibrous dysplasia: retrospective evaluation in a cases series surgically treated and short review of the literature.

BACKGROUND AND AIM OF THE WORK: Fibrous dysplasia is a fibro-osseous osteopathy in which the normal bone architecture is replaced by fibrous tissue and non-functional trabeculae-like osseous structures. In head and neck area monostotic or polyostotic lesions cause a progressively expanding destructive bone swelling producing cosmetic deformities and functional impairments. The aim of this article is to present a retrospective review of a clinical case series with pathologically confirmed jawbone fibrous dysplasia for over an 8-year-period. MATERIAL AND METHODS: Clinical presentation and radiographic features of fibrous dysplasia affecting the jawbone skeletal area, surgical procedures performed including the reconstructive methods employed and clinical outcomes were analysed for each patient. RESULTS: Seven cases were classified as having monostotic fibrous dysplasia while the others four cases were classified as having polyostotic form. The mandible was most commonly involved. The most common presenting features included marked facial deformity, intraoral bulging, malocclusion and dental alterations. Aesthetic and/or functional impairments were the major indications for surgical treatment in all the patients of this series. Six patients underwent bone remodelling while in the remaining cases subtotal or total resection was performed. Bone reconstruction by means of autologous free bone grafts or revascularized free bone flaps was made in three cases. CONCLUSION: The choice of the tailored therapeutic approach should be evaluated according the patient's age, rate of growth, anatomic location, type of involvement and the presence or not of functional disturbances and cosmetic alterations. Surgery remains the best therapeutic option.

Undifferentiated Pleomorphic Sarcoma Arising in a Fibrous Dysplasia Confirmed by GNAS Mutation Analysis: A Case Report.

CASE: We report the case of a 78-year-old woman with undifferentiated pleomorphic sarcoma (UPS) of the proximal femur arising in a previous site of fibrous dysplasia (i.e., a liposclerosing myxofibrous tumor) that had been treated 4 years earlier with curetted surgery. GNAS mutation was detected in both the previous benign lesion and the UPS. CONCLUSION: Genetic analysis is useful in demonstrating the origin of the tumor especially in fibrous dysplasia with severe degeneration that have undergone malignant transformation.

The surgical management of monostotic fibrous dysplasia of the inferior turbinate.

Fibrous dysplasia is a non-neoplastic, sporadic, slowly progressing disease of the bone in which normal bone is replaced by abnormally overgrowing lesions. There are three different types of fibrous dysplasia: monostotic (affecting a single bone), poliostotic (affecting multiple bones) and syndromic, when it is associated with other diseases (such as McCune Albright syndrome). Fibrous dysplasia affects cranio-facial bones in 10% of the cases. However, its occurrence in the inferior turbinate is extremely rare. To the best of our knowledge, only four cases of monostotic form have been reported so far. Hereafter we describe a case of monostotic FD of the inferior turbinate surgically treated with a trans-nasal endoscopic partial maxillectomy type II.

Craniofacial fibrous dysplasia associated with McCune-Albright syndrome: challenges in diagnosis and treatment: case reports.

BACKGROUND: McCune-Albright syndrome (MAS) is a rare multisystem disorder that classically was defined by the triad of polyostotic fibrous dysplasia of bone, café-au-lait skin pigmentation, and precocious puberty. It is a condition that has a gradual onset, slow growth rate and remain painless throughout. The clinical phenotype of MAS is highly variable and no definite treatment is available. CASE PRESENTATION: This article describes two cases, a 10-year-old girl and an 11-year-old boy, both with MAS comprising deforming craniofacial FD. Challenges related to diagnosis and management included late reporting with big lesions, involvement of multiple craniofacial bones, mutilating surgeries and ultimately high degree of morbidity. CONCLUSION: Delayed diagnosis and management of MAS results in devastating physical disabilities and severe morbidity after treatment.