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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]

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]

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]

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]

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]

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]

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Polyostotic fibrous dysplasia (PFD) is a rare non-inherited genetic disorder characterized by osteolytic lesions in multiple bones causing bone pain, deformity, and pathological fracture. As an anti-osteolytic agent, the new generation bisphosphonate zoledronic acid (ZOL) restricts lesion progression by inhibiting osteoclastic activity. Although ZOL is more effective than pamidronate, its efficacy and safety in long-term therapy in PFD is unknown. We report a case of PFD advanced to extensive bone destruction in the skull and ribs and evaluate the efficacy and long-term safety of early first-line ZOL in PFD with severe bone disease, recommending possible future treatments. The annual infusion of 5 mg ZOL was intravenously administered, cumulatively 20 mg over four courses, with oral supplementation of calcium, vitamin D, and potassium. No long-term use side effect was observed, and mild transient symptoms were easily resolved. Significant radiological improvement was seen in filling of destroyed bone and cortical thickening. ZOL decreased both serum collagen type 1 cross-linked C-telopeptide and type 1 procollagen N-terminal (P1NP) from extremely high baseline levels. An unexpected direct increase in P1NP after long-term therapy could indicate discontinuation of ZOL to observe its prolonged effect. Early first-line ZOL therapy is effective in PFD with severe bone destruction and is safe for long-term therapy. The use of bisphosphonates in FD remains off-label, and regular monitoring is highly advised. [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. [ABSTRACT FROM AUTHOR]

McCune- Albright Syndrome (MAS) is a rare fibrosseous lesion, characterized by a classic triad of polyostotic fibrous dysplasia (PFD), café -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 café - 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. [ABSTRACT FROM AUTHOR]

Craniofacial fibrous dysplasia is a benign fibro-osseous lesion of bone that only affects the bones of the craniofacial complex. Here, we report a case of craniofacial fibrous dysplasia in a 16-year-old Thai male who presented with mild swelling and tenderness at the mandibular right first molar area and ipsilateral nasal congestion. Conventional and cone-beam CT radiographic examinations were performed. The radiographs revealed multiple mixed radiolucent and radiopaque lesions involving most of the craniofacial bones. The first biopsy from the right mandibular area was diagnosed as juvenile ossifying fibroma, whereas a biopsy from the right maxillary area was diagnosed as fibrous dysplasia. The defects appeared to have a genetic basis, because his mother and younger brother had the same clinical and radiological findings. Furthermore, the family history given by his mother revealed that several other members of her family had similar clinical signs and symptoms. We diagnosed this case as inherited craniofacial fibrous dysplasia on the basis of previously reported clinical, radiographic and histologic findings as well as family history. [ABSTRACT FROM AUTHOR]

Fibrous dysplasia (FD) of bone is a congenital non-heritable disorder that was first reliably reported by von Recklinghausen, when he described patients with pathologic condition of bone characterized by deformity and fibrotic changes that he termed as osteitis fibrosa generalisata. FD may involve one bone (monostotic) or multiple bones (polyostotic) and occurs throughout the skeleton with predilection for long bones, ribs, and cranio-facial bones. Seventy percent of the lesions are monostotic and asymptomatic, and identified incidentally. The polyostotic form of disease is often deforming and devastating, with multiple skeletal complications like repeated fractures, limb length discrepancies, and bone pains. The bone lesion of unknown origin is characterized by slow progressive replacement of normal bone by abnormal proliferative, isomorphic fibrous tissue. This case report documents a 40-year-old male with severe polyostotic FD that involved most of the skeleton, including long bones of all extremities, pelvis, facial bones, and skull base. Initial evaluation consisted of physical examination, plain radiographs, which was followed by computed tomography scan, Single-photon emission computed tomography scan, and biochemical and hematological examination. This paper stresses on the clinical implications and management of this rare debilitating disease. [ABSTRACT FROM AUTHOR]

McCune-Albright syndrome (MAS) is a rare, heterogenous, clinical condition caused by a rare genetic mutation. The disorder is more common in females and is characterized by a triad of cutaneous, bone and endocrine abnormalities. We describe a male patient with MAS having multiple café-au-lait macules and deforming polyostotic fibrous dysplasia involving long bones of the limbs, skull and spine without any endocrine abnormality. Severe bone deformities involving almost all bones have not been described previously and this prompted us to present the current case. [ABSTRACT FROM AUTHOR]

A 29- year old female with bone pain and history of precocious puberty was referred for bone scintigraphy. On physical examination café au lait macular spots were noted on her neck, buttocks and left leg. Bone scan showed multiple areas of intense increased activity which was in favour of polyostotic fibrous dysplasia. Considering the presence of polyostotic fibrous dysplasia, precocious puberty and café au lait macular spots, MacCune- Albright syndrome was confirmed in this patient. [ABSTRACT FROM AUTHOR]

Background: McCune-Albright syndrome (MAS) typically comprises the constellation of polyostotic fibrous dysplasia, café-au-lait spots, and associated endocrinopathies including gonadotropin-independent precocious puberty, excessive growth hormone production and gigantism, hyperthyroidism, and hyperparathyroidism. Objective: We report the unique case of a boy with the diagnostic criteria of MAS accompanied by atypical short stature and macroorchidism without precocious puberty. Patient: An 8.4-year-old prepubertal boy presented with a history of recurrent bone fractures, multiple café-au-lait spots, bilateral macroorchidism, and short stature. X-ray of the extremities was consistent with polyostotic fibrous dysplasia. Serum inhibin B (IB) and anti-müllerian hormone (AMH) were elevated; testosterone, LH, and FSH were normal for age. Results: PCR-based DNA analysis of bone tissue revealed a substitution of arginine for cysteine at position 201 in the Gsα protein resulting in activation of the Gsα subunit. Conclusions: We report a second case of MAS associated with macroorchidism. In this case, isolated Sertoli cell hyperfunction was also associated with microlithiasis and was not associated with peripheral precocious puberty. Short stature not associated with GH-IGF-1 axis abnormality was a second anomalous finding in this case. Our experience suggests that the phenotypic variation in MAS is wider than previously described. Copyright © 2010 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Copyright of Reumatología Clínica is the property of Elsevier B.V. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

We report the case of a patient requiring total knee arthroplasty (TKA) due to massive knee bone deformities caused by rheumatoid arthritis (RA) complicated with polyostotic fibrous dysplasia. Reconstruction of the knee with large osseous defect was achieved with conventional TKA by impaction bone grafting. Benign tumor-like conditions such as fibrous dysplasia may be treated with conventional TKA instead of endoprosthesis, custom-made knee prosthesis, or osteoarticular allografting. [ABSTRACT FROM AUTHOR]

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Although relatively uncommon individually, the various causes of hypophosphataemic rickets have provided an impetus for unravelling the mechanisms of phosphate homeostasis and bone mineralisation. Over the past 10 years, considerable advances have been made in establishing the gene mutations responsible for a number of the inherited causes and in understanding the mechanisms responsible for tumour-induced osteomalacia/rickets. The most exciting aspects of these discoveries have been the discovery of a whole new class of hormones or phosphatonins which are thought to control phosphate homoeostasis and 1 alpha-hydroxylase activity in the kidney, through a bone-kidney-intestinal tract axis. Although our understanding of the interrelationships is far from complete, it raises the possibilities of improved therapeutic agents in the long-term, and has resulted in improved diagnostic abilities in the short-term. [ABSTRACT FROM AUTHOR]

Copyright of Monatsschrift Kinderheilkunde is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

We describe a rare case of polyostotic fibrous dysplasia with craniofacial localization associated with involvement of the spine and extremities. A 14-year-old girl presented with progressive headache, left frontal swelling, exophthalmos of the left eye, deformity and palpable mass in the left frontal area. Cranial computerized tomography revealed extensive involvement of all cranial bones except right frontal and right parietal bones. Most of the facial bones were invaded. Especially, there was the involvement of ethmoidal air sinuses and frontal sinus also. Computerized tomography showed left frontal lobe compression. In addition, the spine and bones of the extremities were involved in the patient. Craniofacial approach was planned. Cranial surgery was performed by an extradural frontal approach. Firstly, the frontal cyst was excised. For left frontal lobe decompression, we removed successfully all the abnormal bones causing mass effect and frontal deformity. Secondly, facial surgery was performed with external approach. An attempt to remove all of the involved bone is necessary, as the lesion may recur and grow if a portion of dysplastic bone is left in place. However, the present case suggests that removal of all the involved bones in the polyostotic fibrous dysplasia may be possible in spite of extensive involvement. In this situation, it may be removal of only abnormal bones responsible for compression of affected neural elements is indicated. [ABSTRACT FROM AUTHOR]

A 36-year-old white man with polyostotic fibrous dysplasia was found to have a high-grade chondrosarcoma arising from the left ilium. Although a left hemipelvectomy was performed, the patient subsequently developed sacral and pulmonary metastases and succumbed to his disease. This patient represents the first documented example of an unequivocally high-grade chondrosarcoma arising in an area of fibrous dysplasia without prior irradiation. [ABSTRACT FROM AUTHOR]

McCune-Albright syndrome (MAS) comprises a triad of fibrous dysplasia of bone, café-au-lait macule, and endocrinopathy. The disease is due to activating mutation of G protein-coupled receptor leading to hyperfunction of glands. Hansen's disease is caused by infection with Mycobacterium leprae and is seen with underlying immunosuppressed conditions in genetically predisposed individuals. We recently encountered a patient with Hansen's disease along with underlying MAS and report the same in this report. [ABSTRACT FROM AUTHOR]

Background: Fibrous dysplasia (FD) is a rare, sporadic, and benign congenital condition in which normal cancellous bone is replaced by fibro-osseous tissue with immature osteogenesis. FD localized in the cranial and facial bones is called craniofacial fibrous dysplasia (CFD). Cystic degeneration in CFD cases is rare; cystic degeneration appearing in both the maxilla and the mandible FD lesion is even rarer. The aim of this article was to report a case of fibrous dysplasia of the mandible and maxilla complicated by nonspecific cystic degeneration. Case presentation: A 30-year-old woman presented with a rare case of non-specific cystic degeneration in a mandible and maxilla FD lesion that occurred 11 years after surgery. She was diagnosed with polyostotic CFD and underwent maxillary and mandibular bone contouring. Cyst enucleation under general anesthesia was performed in the mandibular region due to pain and discomfort. Conclusions: In cases involving non-aggressive and non-invasive FD cystic degeneration in focal areas, conservative treatment is recommended. However, if cystic degeneration of FD develops rapidly and causes discomfort, pain, or dysfunction, surgical treatment should be considered. [ABSTRACT FROM AUTHOR]

We report a boy with the epidermal naevus syndrome, hemimegalencephaly and central precocious puberty who also had polyostotic fibrous dysplasia and skin pigmentation similar to that seen in the McCune-Albright Syndrome. [ABSTRACT FROM AUTHOR]

Polyostotic fibrous dysplasia (FD) is a rare pathology characterized by the abnormal and gradual replacement of normal bone (calcium hydroxylapatite of osteoid matrix) with fibrous connective tissue. Aneurysmal bone cyst (ABC) is a tumor-like benign lesion with blood-filled cavities that can affect virtually any bone in the body. We report on a 20-year-old male presenting with an extremely rare pathology of FD with ABC formation of the skull, fourth rib and humerus. Our case report represents a novel literary addition to rare FD with ABC pathologies. Optimal diagnosis of this rare pathology can be achieved by a full body evaluation for clinical and radiographic FD with or without ABC, and optimal treatment for this rare pathology is the maximum surgical excision of the tumor and/or soft tissue. [ABSTRACT FROM AUTHOR]

Polyostotic fibrous dysplasia is a rare progressive benign disorder of the bone. Bone scintigraphy is extremely useful in the initial evaluation for identifying the extent of disease. We report a case presenting with pathological fracture of the shaft of the right femur. After treatment of the fracture, bone scintigraphy revealed involvement of multiple bones including the skull and facial bones. The utility of single-photon emission computed tomography/ computerized tomography in the evaluation of the extent of skull base involvement is highlighted. [ABSTRACT FROM AUTHOR]