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Polyostotic costal fibrous dysplasia is a rare cause of chest pain. This report describes a young male with polyostotic fibrous dysplasia with partial vertebral involvement, who presented to us with disabling pain refractory to medical therapy. He was managed successfully with resection of dysplastic ribs, while conserving the asymptomatic vertebral lesion. [ABSTRACT FROM AUTHOR]

Abstract 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

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. [ABSTRACT FROM AUTHOR]

Abstract 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.

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). 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. 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. [ABSTRACT FROM AUTHOR]

Fibrous dysplasia is a rare non-neoplastic tumor-like congenital bone disease that is most likely associated with GNAS gene mutations, with a broad spectrum of clinical presentations, ranging from isolated monostotic and polyostotic forms to other extra-skeletal associated manifestations as in McCuneAlbright syndrome. It is responsible for bones weakening and increased fragility, making it prone to fractures. A 65-year-old female patient was referred to our radiology department for cervical and dorsal pain, with a previous diagnosis of incidental cervical and dorsal bone lesions that are suspected for metastases. X-ray, computed tomography, and magnetic resonance imaging were performed with a precise diagnostic suspicion of fibrous dysplasia that is confirmed by bone biopsy. Fibrous dysplasia principally affects the bone and is characterized by bone replacement itself by dysplastic fibrous tissue. According to the number of affected bones and their association to endocrine alterations, it is classified into three categories monostotic, polyostotic, and Albrights disease. Differential diagnosis with multiple myeloma among others and the best treatment decision was made.

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. [ABSTRACT FROM AUTHOR]

Mc Cune Albright Syndrome (MAS) is a rare, sporadic disorder characterized by a triad of symptoms: fibrous dysplasia, cafe-au-lait spots, and endocrinopathy. It is thought to be caused by the mutation of the GNAS1 gene and is predominantly a disease of females. We hereby report a case of a 40-year-old man who presented with suppuration and mobility of teeth in the maxillary left posterior region. The patient also had a history of recurrent fractures of limbs since childhood. Clinical examination revealed asymmetry of the face, brownish-tan macules on the nape of the neck, back, and bilateral buccal mucosa as well as lower labial mucosa. The radiological investigation confirmed the presence of polyostotic fibro-osseous lesion while the biochemical investigations revealed endocrinopathy (hyperparathyroidism). This case report emphasizes the role of an oral physician in arriving at the diagnosis of a complex disorder like MAS.

Background: Fibrous dysplasia (FD) is a less common benign bony fibro-osseous lesion, which is divided into two main kinds: monostotic FD and polyostotic FD (PFD). The natural history or aetiopathogenesis of FD is poorly understood, and treatments are still controversial. Methods: A review of the literature was performed to analyse and discuss the diagnosis and management of FD through a case report and literature review. Results: The current case of a PFD patient, which is usually presented in late childhood or early adulthood, is sometimes associated with endocrine disorders such as McCune–Albright syndrome (MCA). Computed tomography-guided biopsy from the lytic bone area is a useful technique for the evaluation and diagnosis of disease, though the accuracy of the histopathology findings has been not conclusive. Exclusion of other lytic bone lesion disease is the mainstay of diagnosis. All medical and surgical treatments are valid; no one has been proven to be better. The present case is reported because it illustrates specific points of differential diagnosis, such as multiple myeloma, hyperparathyroidism, primary bone malignancy, secondary metastasis in bones, sarcoidosis or granulomatous disease of bone. Conclusions: In the current case, surgical repair of the bone is not possible due to extensive involvement in different sites of the bones, and there is no mechanical compression in any neurological structures, hence medical management was chosen. There is no gold standard in medical or surgical treatment, and each treatment should be individualised. Only medical management shows good results in such cases.

Processed nerve allografts (PNA) have increasingly been used as alternative to autogenous nerve grafts to repair nerve injuries in oral-maxillofacial surgeries. This case report describes an immediate PNA reconstruction of infraorbital nerve injury sustained during the ablation of a large expansile polyostotic fibrous dysplasia centered in the left maxilla. [ABSTRACT FROM AUTHOR]

A 40-year-old man with polyostotic fibrous dysplasia underwent F-18-flourodeoxyglucose (FDG) positron emission tomography/computed tomography imaging to rule out a possible malignancy. It showed lytic, expansile and moderate to high hypermetabolic bone lesions with “ground glass” pattern and surrounded by a distinct rim of reactive bone in the right temporal bone, 8th and 9th ribs on the left hemithorax, T8 vertebra and sacrum. As some lesions had high F-18-FDG uptake, it was recommended to repeat the histopathological examination with suspicion of sarcomatous pathology. A second biopsy of the mass on the 8th rib was confirmed the diagnosis of fibrous dysplasia.

Purpose: To evaluate the treatment result in polyostotic fibrous dysplasia classified according to the involvement of the femoral head. Materials and Methods: Twenty-three patients from March 1987 to March 2014 were reviewed retrospectively. Patients with no involvement of the physeal scar in the femoral head were classified as Type I, and those with involvement of the physeal scar were classified as Type II. A plain radiograph was used to measure the femoral neck shaft angle, articulo-trochanteric distance (ATD), and anterior bowing through the lateral view. A teleoroentgenogram of the lower limb was used to measure the leg length discrepancy and lower extremity mechanical axis. The pre- and postoperative femoral neck-shaft angle and ATD were compared to assess the degree of correction of the deformity. Results: Among a total of 46 cases (23 patients), 28 cases (23 patients) had lesions in the proximal femur. Type I were 16/28 cases (15/23 patients) and Type II were 12/28 cases (9/23 patients). The preoperative proximal femoral neck-shaft angle was 116.8° in Type I and 95.3° in Type II. The ATD was 12.08 mm in Type I and -5.54 mm in Type II. The deformity correction showed significant improvement immediately after surgery, the deformity correction was lost in Type II (neck shaft angle Type I: 133.8°–130.8°, Type II: 128.6°–116.9°, and ATD Type I: 17.66–15.72 mm, Type II: 7.44–4.16 mm). The extent of anterior bowing was 12.74° in Type I and 20.19° in Type II. The mean differences of 12 mm between the 9 patients who showed a leg length discrepancy and the lower extremity mechanical axis showed 4 cases of lateral deviation and 7 cases of medial deviation. Conclusion: In polyostotic fibrous dysplasia, when the femur head is involved, the femur neck shaft angle, ATD, and anterior bowing of the femur had more deformity, and the postoperative correction of deformity was lost, suggesting that the involvement of the femoral head was an important factor in the prognosis of the disease. [ABSTRACT FROM AUTHOR]

Pure intraosseous arteriovenous malformation (AVM) in a limb bone is extremely rare. Furthermore, there is currently insufficient information on the diagnostic and therapeutic strategies for pure intraosseous AVMs. We herein report a case of pure intraosseous AVM of the proximal femur occurring in a patient with polyostotic fibrous dysplasia. The patient was a 39-year-old woman who presented with pain in the right thigh. Plain radiographs and computed tomography scans revealed a medullary lytic lesion with expansion and thinning of the bone cortex in the right proximal femur, mimicking a primary bone tumor. Magnetic resonance imaging (MRI) examination revealed intramedullary signal voids and feeding arteries arising from the deep femoral artery. A non-surgical approach using embolization and denosumab achieved satisfactory results, which included complete obliteration of the AVM, increased cortical thickness of the right proximal femur, and attenuation of the high-turnover bone metabolism 1 year later. Careful review of MRI images is crucial for distinguishing between bone tumors and intraosseous AVM, which exhibit signal voids and feeding arteries, in order to avoid unnecessary interventions such as bone biopsy or surgery. [ABSTRACT FROM AUTHOR]

A 40-year-old man with polyostotic fibrous dysplasia underwent F-18-flourodeoxyglucose (FDG) positron emission tomography/computed tomography imaging to rule out a possible malignancy. It showed lytic, expansile and moderate to high hypermetabolic bone lesions with "ground glass" pattern and surrounded by a distinct rim of reactive bone in the right temporal bone, 8th and 9th ribs on the left hemithorax, T8 vertebra and sacrum. As some lesions had high F-18-FDG uptake, it was recommended to repeat the histopathological examination with suspicion of sarcomatous pathology. A second biopsy of the mass on the 8th rib was confirmed the diagnosis of fibrous dysplasia. [ABSTRACT FROM AUTHOR]

Craniofacial fibrous dysplasia (FD) is one of three types of FD which can affect the craniofacial complex. It is the proliferation of cellular fibrous connective tissue intermixed with irregular bony trabecules. It is a developmental tumor-like condition that is characterized by replacement of normal bone. The purpose of this report is to present a rare case of craniofacial polyostotic FD that led to vision loss in the same affected side.

McCune- Albright Syndrome (MAS) is a rare fibrosseous lesion, characterized by a classic triad of polyostotic fibrous dysplasia (PFD), cafι -au-lait macules (CALM) and underlying endocrinopathies. We present the oral findings of an interesting case of MAS with relevant review of literature. A 30-year-old male presented to us with swelling of both jaws over a period of two years. Cutaneous examination revealed cafι - au - lait macule over the back, crossing the midline. Skeletal survey showed expansile, osteolytic, mixed radiolucent- radiopaque lesions in skull and jaw bones. Serum alkaline phosphatase was elevated (388 IU/L), with normal calcium, phosphorus, parathyroid hormone and 25 hydroxy vitamin D levels. Diagnosis of McCune- Albright syndrome was made and he was treated with parenteral bisphosphonates (intravenous Zoledronate 4 mg) and is under follow up for surgical recontouring of the jaws. Early recognition facilitates better treatment and improves prognosis by reducing the morbidity.