Fibrous Dysplasia Polyostotic: When Radiology Clarifies the Diagnosis.

Fibrous dysplasia is a rare non-hereditary congenital condition characterized by 2 main forms: monostotic and polyostotic. Monostotic is the more common form, while polyostotic, often associated with a syndrome, is rarer. The case presented involves a 10-year-old patient who was diagnosed with polyostotic fibrous dysplasia accompanied by an endocrinopathy. This report explores the clinical and radiological aspects of this condition based on the patient's case.

Fibrous Dysplasia of the Clivus: Case Report and Literature Review.

Fibrous dysplasia is a benign, developmental bone disorder that causes fibrous replacement of normal skeletal tissue. This may lead to weakness, distortion, and tissue expansion. Fibrous dysplasia can occur anywhere in the body, including the craniofacial area. The clivus is a central skull bone formed by the bases of the sphenoid and occiput, respectively. The clivus is a rare, usually unrecognized, and seldom reported location for the development of fibrous dysplasia. Although fibrous dysplasia of the clivus (FDC) is usually discovered by incidental findings, it can sometimes present with clinical symptoms. In this case, we discuss a 30-year-old male who presents to the emergency room with headaches, altered mental status, and a prior presentation of location-related symptomatic epilepsy. Magnetic resonance imaging depicted a mass in the clivus, low in signal on T1 and mildly hypointense on T2 imaging. Follow-up computed tomography (CT) imaging, as recommended, revealed the classic presentation of FDC. In this paper, we discuss the significance of this condition and the importance of thorough investigation to rule out differential diagnoses that may present with similar acute symptoms as this patient.

A Massive Craniofacial Polyostotic Fibrous Dysplasia of Midface - A Rare Case Report.

Rationale: Fibrous dysplasia (FD) is a fibro-osseous lesion of the osseous structures of the body. With an incidence of 1:4000-1:10,000, it seems to be a rare disease. Polyostotic craniofacial fibrous dysplasia involves the skull base bones and facial bones. Patient Concerns: The patient complained of a huge swelling over the right side of her face for the past 12 years. Diagnosis: Based on clinical, radiological and histopathological findings, the swelling was diagnosed as polyostotic craniofacial FD. Treatment: Swelling over the right side of the midface around 6 cm × 5 cm involving right maxilla, zygoma, floor of orbit, lateral side of nose (pyriform aperture) and skull base bones. Since the patient had no functional deficit, we opted for surgical recontouring. Outcomes: The patient was satisfied with post-operative results. Take-Away Lessons: In huge asymptomatic facial deformity, rather than going for resection, we can remove bone in a piecemeal manner followed by recontouring.

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.

Craniofacial Fibrous Dysplasia: Surgical Management and Long-Term Outcomes at a Referral Center in Mexico City.

Background Craniofacial fibrous dysplasia (CFD) is an uncommon benign condition in which a bone is replaced by fibrous tissue. An adequate clinical characterization considering the number of affected bones and functional impairment is important to determine the most effective surgical intervention for its management. This study aims to present our institution's experience in the evaluation and management of CFD. Methods This was a retrospective study that included patients with CFD managed at our institution. Data included demographic characteristics, afflicted bones, surgical procedures performed, and recurrence. Results are presented as mean and percentages. Recurrence-free years and association between the type of surgery and recurrence was evaluated. Results Eighteen patients were included (11 females, 61%). The zygomatic, maxillary, and frontal bones were the most commonly affected with eight (18%) cases each. The most common procedure was bone burring, with 36 procedures. Recurrence was more prevalent after burring (58.3%) and occurred earlier than in the bone resection group (13 vs. 15 years, p > 0.05). Conclusion Surgery continues to be the cornerstone of CFD treatment. Bone burring is effective for debulking and contouring but increases the risk for recurrence. An individualized approach should be tailored according to the anatomical location of the disease, type of CFD, behavior of the lesion, and accompanying clinical complaints.

Current concepts of craniofacial fibrous dysplasia: pathophysiology and treatment.

Fibrous dysplasia is an uncommon genetic disorder in which bone is replaced by immature bone and fibrous tissue, manifesting as slowgrowing lesions. Sporadic post-zygotic activating mutations in GNAS gene result in dysregulated GαS-protein signaling and elevation of cyclic adenosine monophosphate in affected tissues. This condition has a broad clinical spectrum, ranging from insignificant solitary lesions to severe disease. The craniofacial area is the most common site of fibrous dysplasia, and nine out of 10 patients with fibrous dysplasia affecting the craniofacial bones present before the age of 5. Surgery is the mainstay of treatment, but the technique varies according to the location and severity of the lesion and associated symptoms. The timing and indications of surgery should be carefully chosen with multidisciplinary consultations and a patient-specific approach.

Polyostotic Fibrous Dysplasia: A Case Report of Rarity.

A skeletal condition known as fibrous dysplasia (FD) is characterized by the replacement of healthy bone with fibrous bone tissue. One bone (monostotic) or several bones could be involved (polyostotic). Any bone in the body might become affected by FD. The skull and face bones are the most typical locations. It is connected to a GNAS1 gene mutation (20q13.2). It begins during childhood and could continue far into adolescence and adulthood. In this case study, a 22-year-old woman was identified as having polyostotic FD based on her clinical, radiological, and histological characteristics.

Hyperthyroidism in McCune-Albright Syndrome - a case report.

OBJECTIVES: We intend to describe a case of McCune-Albright Syndrome (MAS), a rare disease characterized by fibrous dysplasia (FD), cutaneous hyperpigmentation and hyperfunctioning endocrinopathies (HFE). CASE PRESENTATION: We report the case of a 13-year-old male child who presented with a café-au-lait macule in the lumbosacral region and disabling polyostotic FD, requiring several surgical interventions and bisphosphonates from the age of 3 years (Y) + 9 months (M) due to persistent and severe pain. Hyperthyroidism (HT) became apparent at 5 Y + 1 M with a T3/T4 ratio greater than 20. Treatment with anti-thyroid drugs (ATD) was carried out for 7 Y and there was a progressive improvement in pain complaints 8 M after starting ATD, allowing treatment with pamidronate to be discontinued. Total thyroidectomy was performed at 12 Y + 5 M. CONCLUSIONS: This is a case of MAS-associated HT that reflects the deleterious effect of thyroid hormone excess on FD, reinforcing the need of having a low threshold for suspicion of HFE that may arise.

Surgical correction of valgus deformities of the knee in Polyostotic Fibrous Dysplasia.

Coxa vara and shepherd's crook deformity represent the most common femoral deformities in patients affected by polyostotic fibrous dysplasia (PFD) and McCune Albright syndrome (MAS). The tibia is also commonly affected, with antero-medial bowing and valgus deformity. Surgical treatment of these deformities are technically demanding and, in most cases, intramedullary nails are the preferred method to stabilize corrective osteotomies. Genu valgus may also be present, as a residual defect after the surgical correction of the aforementioned deformities. The aim of our study was to report the outcomes obtained in five patients with PFD or MAS operated on for complex deformities of the lower limbs with an associated residual genu valgum greater than 15°. It was surgically treated by distal femoral or proximal tibial osteotomy stabilized with a screw plate. The osteotomy was performed distal to the intramedullary nail in femurs, while it was performed after removing the intramedullary nail in the proximal metaphysis of the tibia. In latter cases, the intramedullary device was reinserted at least 6 months after surgery. At follow-up, the femoro-tibial angle was corrected in all cases and the patients were satisfied with the final result. Two patients showed mild limping, unrelated to the alignment of the knee. In our opinion, residual valgus deformities of the lower limb greater than 15 degrees should be corrected to improve function and cosmetic appearance of these patients. The osteotomy of the distal femur or of the proximal tibia stabilized by a screw-plate represent the treatment of choice for the correction of these deformities.

Cross-sectional evaluation of FGD-avid polyostotic fibrous dysplasia: MRI, CT and PET/MRI findings.

A 42-year-old male with left hip pain was diagnosed of several right femoral and tibial bone tumours. All lesions were osteolytic with sclerotic margins. The symptomatic lesion in the proximal femur also showed bone expansion and focal cortical thinning. Whole-body [18F]-fluorodeoxyglucose (FDG) PET/CT and segmental PET/MRI of the left hip and femur were performed for metabolic characterization of the lesions and for biopsy guidance. The lesions showed a heterogenous degree of FDG uptake corresponding to different metabolic stages of the disease. A biopsy of the tumour portion showing the highest FDG uptake revealed a fibrous dysplasia (FD). In conclusion, although generally affecting paediatric and adolescent subjects, polyostotic FD may be detected in the adulthood. Despite the benign nature of the disease, increased glucose metabolism can be seen in some lesions. Hybrid imaging combining morphological and functional information may help guide biopsy and better define the treatment strategy.

Caracterización clínica de pacientes chilenos con displasia fibrosa/síndrome de McCune-Albright / Clinical features of Chilean patients with Fibrous Dysplasia/McCune-Albright Syndrome

BACKGROUND: Fibrous Dysplasia/McCune-Albright Syndrome (FD/MAS) is characterized by a spectrum of manifestations that may include fibrous dysplasia of bone and multiple endocrinopathies. AIM: To describe the clinical spectrum, the study and follow-up of patients with FD/MAS cared at our institution. MATERIAL AND METHODS: Review of medical records of 12 pediatric and adult patients (11 women) who met the clinical and genetic diagnostic criteria for FD/ MAS. RESULTS: The patients' mean age at diagnosis was 4.9 ± 5.5 years. The most common initial clinical manifestation was peripheral precocious puberty (PPP) in 67% of patients and 75% had café-au-lait spots. Fibrous dysplasia was present in 75% of patients and the mean age at diagnosis was 7.9 ± 4.7 years. Ten patients had a bone scintigraphy, with an age at the first examination that varied between 2 and 38 years of age. The most frequent location of dysplasia was craniofacial and appendicular. No patient had a recorded history of cholestasis, hepatitis, or pancreatitis. In four patients, a genetic study was performed that was positive for the pathogenic variant of guanine nucleotide binding protein, alpha stimulating (GNAS). CONCLUSIONS: These patients demonstrate the variable nature of the clinical presentation and study of FD/MAS. It is essential to increase the index of diagnostic suspicion and adherence to international recommendations.

Craniomaxillofacial Fibrous Dysplasia Improved Cosmetic and Occlusal Problem by Comprehensive Treatment: A Case Report and Review of Current Treatments.

Fibrous dysplasia (FD) is a fibrous lesion of immature bone, with an incidence of 10-20% in the head and neck region. Most cases are monostotic, but when a lesion occurs on the maxillofacial region and spreads to the surrounding bone, it is classified as polyostotic, despite its localized occurrence. In some cases, surgical intervention is required to improve the cosmetic or functional disturbance of a FD in the maxillofacial region, but it is necessary to confirm symmetry of the maxillofacial region in real time, and a surgical support system is required to compensate. Furthermore, prosthetic intervention is considered when postoperative acquired defects occur or further cosmetic or occlusal function improvement is needed. A comprehensive approach by an oral surgeon and a maxillofacial prosthodontist is necessary for the successful treatment and rehabilitation of such patients. In this article, we describe the case of a craniomaxillofacial FD patient with facial asymmetry and denture incompatibility with improved quality of life measures by integrating surgical treatment using a navigation system and postoperative prosthetic rehabilitation. We also discuss recent diagnostic methods and treatment strategies for craniomaxillofacial FD in the literature.

[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.

Pathological Femoral Shaft Fracture With McCune-Albright Syndrome With Hyperthyroidism Managed With Oral Alendronate: A Case Report.

McCune-Albright syndrome (MAS) is a complex endocrinopathy with polyostotic fibrous dysplasia and café-au-lait spots. Pathological femoral shaft fracture along with MAS is not a common occurrence. Bisphosphonates can be used for the management of pathological fractures. A seven-year-old male child presented with pathological femoral shaft fracture with MAS (café-au-lait macules and hyperthyroidism). The patient was managed conservatively with closed reduction along with hip spica and oral alendronate. Fracture consolidation occurred within six to eight weeks with improvement in bone pains. Oral alendronate can be used as an adjuvant to conservative therapy for pathological fracture in MAS in children.

Fibrous dysplasia in cardio-facio-cutaneous syndrome: A case report and review of literature.

Cardio-facio-cutaneous (CFC) syndrome (OMIM #:115150, 615278, 615279, 615280) is a rare genetic condition caused by variants in the RAS/mitogen-activated protein kinase (MAPK) signal transduction pathway. Up to 75% of cases are caused by mutations in the BRAF gene, whereas KRAS gene mutation has only been reported in <2% of cases. CFC syndrome is characterized by cardiac abnormalities, distinctive craniofacial dysmorphism, and various cutaneous abnormalities. Musculoskeletal and orthopedic manifestations are also prevalent in patients with CFC syndrome, among which the most common are skeletal deformities and joint laxities. Dysplastic bone disorders, on the other hand, have not been reported in CFC syndrome before. We report on a case of symmetrical polyostotic fibrous dysplasia (FD) in a patient with CFC syndrome with the KRAS(NM_004985.5):c.57G>C; p.Leu19Phe variant. The FDs were incidentally picked up, and patient was conservatively managed and remained asymptomatic on follow-up. The same variant was reported previously in a patient with Oculoectodermal Syndrome (OES), who developed polyostotic non-ossifying fibroma (NOF). This case explores FD as a possible new clinical feature of CFC syndrome, and when linked to the historical case of OES, explores whether the KRAS(NM_004985.5):c.57G>C; p.Leu19Phe mutation may potentially contribute to the development of dysplastic bone lesions in patients with this particular mutation.

Acromegalia por macroadenoma hipofisiario en paciente con síndrome de McCune-Albright. Reporte de caso y revisión de la literatura / Acromegaly due to pituitary macroadenoma in a patient with McCune-Albright syndrome. Case report and literature overview

Introducción: El síndrome de McCune-Albright (SMA) es una enfermedad rara caracterizada por la triada: manchas cutáneas de color café con leche, displasia fibrosa poliostótica y pubertad precoz. Puede afectar a diversos ejes hormonales, entre ellos el de la hormona de crecimiento (GH), pudiendo asociarse a acromegalia. Reporte de caso: describimos el caso de una mujer de 44 años, con pubertad precoz periférica, hemorragia uterina anormal, crecimiento de manos y pies, prognatismo, prominencia frontal, manchas café con leche y tumoraciones pétreas en cara y antebrazos. Resultados: Apoyados con exámenes laboratoriales y de imágenes, se llegaron a los diagnósticos de acromegalia, hipogonadismo hipogonadotropo y síndrome de McCune-Albright. La paciente fue sometida a tratamiento quirúrgico con persistencia de enfermedad clínica y laboratorial. Conclusión: El diagnóstico y tratamiento oportunos de la acromegalia y sus complicaciones brindará un mejor pronóstico a los pacientes con SMA.

Background: McCune-Albright syndrome (MAS) is a rare disease characterized by the triad: café-au-lait skin spots, polyostotic fibrous dysplasia, and precocious puberty. It can affect various hormonal axes, including growth hormone (GH), and may be associated with acromegaly. We describe the case Case report:of a 44-year-old woman with peripheral precocious puberty, abnormal uterinebleeding, growthof thehands and feet, prognathism, frontal prominence, café-au-lait spots, and stony tumorsonthefaceandforearms.Supportedby Results:laboratory and imaging tests, the diagnoses of acromegaly, hypogonadotropic hypogonadism and McCune-Albright syndrome were reached. The patient underwent surgical treatment with persistence of clinical and laboratory disease. Conclusion: Timely diagnosis and treatment of acromegaly and its complications will provide a better prognosis for patients with MAS

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.

McCune-Albright syndrome - A case report with transmission electron microscopy

Abstract McCune - Albright syndrome is a genetic disease with cutaneous mosaicism caused by post-zygotic activating mutations in GNAS locus, it has a triad of fibrous bone dysplasia, café-au-lait macules and precocious puberty. We examined a 22-year-old female patient with café au lait spot in right side of the abdomen, with a chessboard - like distribution, extending to right thigh with geographical contours, she has also an ovarian cyst, scoliosis and truncal obesity. Biopsies were taken from the hyperpigmented area and processed for light microscopy and for transmission electron microscopy. Light microscopy showed increased melanin pigment with HE staining. Immunohistochemistry with melanocytic markers (HMB-45 and Melan-A) revealed a normal number of melanocytes. Transmission electron microscopy demonstrated normal epidermal structures, such as desmosomes, cytokeratin filaments and hemidesmosomes. With high magnifications an irregular melanossomal contour was seen, with some indentations in their outline.