Displasia fibrosa monostótica / Monostotic fibrous displasia

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Prevalence of Different Forms and Involved Bones of Craniofacial Fibrous Dysplasia.

BACKGROUND: The purposes of this study were to analyze the prevalence of various craniofacial bones involved in patients with craniofacial fibrous dysplasia (CFD) and to demonstrate the most common form and bone involvement in patients with CFD for surgeons. METHODS: To address the research purpose, the authors designed and performed a systematic review with meta-analysis. A comprehensive electronic search without date was performed in August 2013. Data extracted from the previously published literature were analyzed with STATA 11.0 software. RESULTS: Relevant data were extracted from 18 studies (487 total participants) and revealed that in CFD patients, the prevalence of the monostotic type was 56% (95% confidence intervals [CI]: 0.42-0.70; P = 0.000) and polyostotic type was 47% (95% CI: 0.31-0.63; P = 0.000); McCune-Albright syndrome was a relatively rare form (7%; 95% CI: 0.02-0.12; P = 0.006). Subgroup analyses indicated that the maxilla was most commonly involved (28%; 95% CI: 0.42-0.70; P = 0.000) in monostotic CFD, followed by the orbital (27%; 95% CI: -0.23-0.76; P = 0.298), mandibular (25%; 95% CI: 0.16-0.35; P = 0.000), frontal (22%; 95% CI: 0.09-0.34; P = 0.001), and temporal bones (12%; 95% CI: 0.03-0.21; P = 0.012). The prevalence of maxilla involvement in polyostotic CFD patients was as high as 30% (95% CI: 0.18-0.42; P = 0.000). CONCLUSION: This meta-analysis found that monostotic and polyostotic forms of CFD shared similar prevalence rates. Furthermore, the maxilla was found to be the most commonly involved bone in both monostotic and polyostotic CFD.

Fibrous dysplasia of bone associated with primary hyperparathyroidism.

OBJECTIVE: Fibrous dysplasia of bone and primary hyperparathyroidism (PHPT) may occur in patients with McCune-Albright Syndrome. A small number of cases with both diagnoses that are not associated with the above-mentioned genetic disorder have been published in the literature. It is uncertain if these disorders are linked in some way. In the present study, we aimed to further explore a potential relationship between PHPT and fibrous dysplasia of bone. METHODS: We conducted a retrospective review of all cases seen at Mayo Clinic, Rochester, Minnesota, between 1976 and 2011 that were diagnosed with both PHPT and fibrous dysplasia of bone. RESULTS: We identified 10 patients who were diagnosed with both PHPT and fibrous dysplasia of bone. Fibrous dysplasia was polyostotic in 7 (70%) cases. It affected the lower extremities in 6 (60%) patients, the skull or facial bones in 4 (40%), and was localized to one rib in 1 patient (10%). In 4 patients, fibrous dysplasia was diagnosed first, between 9 to 50 years before being diagnosed with PHPT. Two cases of fibrous dysplasia were recognized between 2 and 5 years after the diagnosis of PHPT. The remaining 4 patients were diagnosed with both conditions at approximately the same time. CONCLUSION: It remains unclear if the association between fibrous dysplasia of bone and PHPT is more than coincidental, although the possibility of a rare familial genetic syndrome is not completely excluded.

[Eighteen cases of craniofacial fibrous dysplasia]. / Dix-huit cas de dysplasie fibreuse craniofaciale.

INTRODUCTION: Fibrous dysplasia or Jaffe Lischtenstein's disease is sporadic and rare bone affection, mainly observed in young adults. It is characterized by a bone maturation disorder that can affect one or several bones. Fibrous dysplasia is relatively rare in the craniofacial region, (only 20% of all locations). The authors analyzed the epidemiological, anatomoclinical and evolutive features of fibrous dysplasia in a Tunisian population. MATERIAL AND METHOD: The authors retrospectively studied 18 cases of craniofacial fibrous dysplasia, diagnosed at the pathology department of the Sousse F. Hached hospital, beween1990 and 2005. RESULTS: Most craniofacial dysplasia cases were monostotic (94% of cases). One case was polyostotic. The maxilla and the mandible were the most frequent locations (83.3%). The patients' mean age was 28.6 years, ranging from 6 to 30 years. The sex ratio was 3.5 in favor of women. Follow-up ranged from one month to 10 years with an average of 26.4 months. One case of sarcomatous transformation was observed. DISCUSSION: The authors noted epidemiological discrepancies compared to what was usually reported, especially concerning the strong female predominance, the frequency of maxillary and mandibular locations and the predominance of monostotic presentations. Larger series are needed to validate these observations.

Tumours and tumour-like lesions of the hip in the paediatric age: a review of the Rizzoli experience.

Bone tumours and tumour-like lesions of the hip in children are rare. Signs and symptoms of these tumours are generally nonspecific. Delay of diagnosis is not uncommon. A high index of suspicion in young patients presenting with persistent pain and without history of trauma, that is unresolved with conservative therapy should prompt further investigation, including radiographs or computed tomography scan of the pelvis. In the experience of the Istituto Rizzoli, in patients less than 14 years (mean 9 years, ranged from 6 months to 14 years), 752 tumours and tumours-like lesions occurred in the pelvis or proximal femur, involving the hip. Tumour-like lesions accounted for 322 cases (simple bone cyst in 255, eosinophilic granuloma in 43, aneurismal bone cyst in 34), benign tumours for 340 cases (osteoid osteoma in 229, fibrous dysplasia in 63, exostosis in 48) and malignant tumours for 80 cases (Ewing's sarcoma in 53 and osteosarcoma in 27). The epidemiology, pathology, clinical presentation, and radiograph findings are discussed for each of these tumours.Treatment of these tumours differs from observation or minimally invasive treatment for most pseudotumoural lesions, intralesional excision or termoablation for benign bone tumours and wide resection for malignant bone tumours. In this latter group, chemotherapy is required and often administered pre- and postoperatively.

Fracture incidence in polyostotic fibrous dysplasia and the McCune-Albright syndrome.

UNLABELLED: In patients with polyostotic fibrous dysplasia of bone, the peak incidence of fractures is during the first decade of life, followed by a decrease thereafter. Phosphaturia is associated with an earlier incidence and increased frequency of fractures. INTRODUCTION: Fibrous dysplasia (FD) is a disorder involving either one (monostotic) or several bones (polyostotic FD [PFD] and sometimes is associated with cafe-au-lait hyperpigmentation of the skin and one or more hyperfunctioning endocrinopathies (McCune-Albright syndrome [MAS]). Both PFD and MAS are often associated with phosphaturia. Although fractures occur frequently in PFD/MAS, fracture incidence and the effect of age and co-existing metabolic abnormalities (endocrinopathy and/or phosphaturia) on fractures are ill defined. MATERIALS AND METHODS: We reviewed the medical records and examined the endocrine and phosphorus metabolism of 35 patients with PFD/MAS. We report on the age at which extremity fractures occurred and their location and treatment. The results of endocrine and phosphorus metabolism testing and associations between age of first fractures, number of fractures, fracture rate, and metabolic abnormalities were noted. RESULTS: The average follow-up was 14.2 years (range, 2-39 years), during which 172 fractures occurred. The number and sites of fractures were 103 femoral, 25 tibial, 33 humeral, and 11 forearm. Twenty-seven patients had PFD with one or more endocrinopathies and/or phosphaturia, and eight had PFD alone. The endocrinopathies included precocious puberty (n = 19), hyperthyroidism (n = 9), growth hormone excess (n = 6), and one patient each with Cushing syndrome and primary hyperparathyroidism. Twelve patients had phosphaturia. The peak rate of fractures occurred between 6 and 10 years of age and decreased thereafter. Patients with metabolic abnormalities sustained their first fracture at an earlier age (6.9 versus 16.6 years, p < 0.005) and had a higher lifetime rate of fractures (0.29 versus 0.08 fractures/year), relative to patients with PFD alone. Phosphaturia was the single metabolic dysfunction associated with both an earlier age of first fracture (5.1 versus 16.6 years, p < 0.05) and a greater lifetime fracture rate (0.35 versus 0.08 fractures/year, p < 0.05). CONCLUSIONS: The occurrence of extremity fractures in FD peaks between 6 and 10 years of age and declines thereafter. Fractures occur earlier and more frequently in the presence of phosphaturia. These data have implications for long-term prognosis, clinical management, and interpretation of therapeutic interventions.

[Monostotic fibrous dysplasia of the calcaneus: two case reports]. / Dysplasie fibreuse monostotique du calcaneus: à propos de 2 cas.

The authors report two unusual cases of aggressive monostotic fibrous dysplasia involving the calcaneus. This lesion occurs on the 2th decade of life. The main symptom is talalgia. On plain films, differential diagnosis includes aggressive cystic or pseudocystic lesions of the calcaneus. On MR imaging, the tumor matrix is more suggestive of the diagnosis. Treatment of this aggressive form of fibrous dysplasia consists of a surgical curettage completed by cryotherapy and graft because of a high level of recurrence.

Displasia fibrosa: reporte de 6 casos de variedad monostótica / Fibrous dysplasia: report of 6 cases of the monostotic variety

Los autores presentamos un enfoque clínico descriptivo de la displasia fibrosa, incluyendo nuestra experiencia en seis casos clínicos de diferente sexo y localización, detallando estudios y técnicas quirúrgicas realizadas (AU)

Displasia fibrosa: reporte de 6 casos de variedad monostótica / Fibrous dysplasia: report of 6 cases of the monostotic variety

Los autores presentamos un enfoque clínico descriptivo de la displasia fibrosa, incluyendo nuestra experiencia en seis casos clínicos de diferente sexo y localización, detallando estudios y técnicas quirúrgicas realizadas

Fibrous dysplasia of the clivus and sphenoid sinus.

Fibrous dysplasia is a primary disease of bone that may lead to bony distortion, expansion, and weakness. Craniofacial involvement is an important entity for physicians to be aware of because of the potential for impingement on neurovascular structures, intracranial extension, and cosmetic deformity. We report two cases of craniofacial fibrous dysplasia and discuss the clinical presentation, radiographic and histologic findings, and the management of affected patients.