Fibrous dysplasia
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Fibrous dysplasia for radiologists: beyond ground glass bone matrix Open
Fibrous dysplasia (FD) is a congenital disorder arising from sporadic mutation of the α-subunit of the Gs stimulatory protein. Osseous changes are characterised by the replacement and distortion of normal bone with poorly organised, struct…
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Fibrous Dysplasia/McCune-Albright Syndrome: A Rare, Mosaic Disease of Gα s Activation Open
Fibrous dysplasia/McCune-Albright syndrome (FD/MAS) is a rare disorder of striking complexity. It arises from somatic, gain-of-function mutations in GNAS, leading to mosaic Gα s activation and inappropriate production of intracellular cycl…
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Fibrous dysplasia of bone: craniofacial and dental implications Open
Fibrous dysplasia ( FD ) is a rare bone disease caused by postzygotic somatic activating mutations in the GNAS gene, which lead to constitutive activation of adenylyl cyclase and elevated levels of cyclic AMP , which act on downstream sign…
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Outcome of Long-Term Bisphosphonate Therapy in McCune-Albright Syndrome and Polyostotic Fibrous Dysplasia Open
McCune-Albright syndrome (MAS) is a rare bone disorder characterized by fibrous dysplasia (FD), endocrinopathies, and café-au-lait patches. FD patients have been shown to respond favorably to treatment with bisphosphonates, but data are sc…
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Unicameral bone cysts: Current concepts Open
Unicameral bone cysts (UBC) or simple/solitary bone cysts are benign fluid filled cavities that enlarge over time, resulting in thinning of the bone. Usually these cysts are reported in the metaphyseal areas of long bones with open physes.…
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The Clinical Spectrum of McCune-Albright Syndrome and Its Management Open
McCune-Albright syndrome (MAS) is a rare, mosaic disorder presenting along a broad clinical spectrum. Disease arises from somatic-activating GNAS mutations, leading to constitutive Gαs activation and ligand-independent signaling of the Gαs…
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Age-Related Changes and Effects of Bisphosphonates on Bone Turnover and Disease Progression in Fibrous Dysplasia of Bone Open
Fibrous dysplasia (FD) is a mosaic disease in which bone is replaced with fibro-osseous tissue. Lesions expand during childhood, reaching final burden by age 15 years. In vitro data suggest that disease activity decreases in adulthood; how…
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Clinical and ophthalmological outcome of endoscopic transorbital surgery for cranioorbital tumors Open
OBJECTIVE Cranioorbital tumors are complex lesions that involve the deep orbit, floor of the frontal bone, and lesser and greater wing of the sphenoid bone. The purpose of this study was to describe the clinical and ophthalmological outcom…
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Induced <i>Gnas</i> <sup> <i>R201H</i> </sup> expression from the endogenous <i>Gnas</i> locus causes fibrous dysplasia by up-regulating Wnt/β-catenin signaling Open
Significance Understanding molecular and cellular mechanisms of rare genetic diseases provides invaluable insights into the human biology and pathology of both rare and related common diseases. Fibrous dysplasia (FD) is a mosaic disease re…
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Denosumab in Patients With Fibrous Dysplasia Previously Treated With Bisphosphonates Open
Context Fibrous dysplasia/McCune-Albright syndrome (FD/MAS) is a rare bone disorder commonly treated with bisphosphonates, but clinical and biochemical responses may be incomplete. Objective To evaluate the efficacy and tolerability of the…
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Bone-Grafting in Polyostotic Fibrous Dysplasia Open
Bone-grafting, including both allograft and autograft, is of limited value in ablating the lesions of fibrous dysplasia. The expectations of patients and surgeons should include the high probability of graft resorption over time with retur…
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Prognostic Factors From an Epidemiologic Evaluation of Fibrous Dysplasia of Bone in a Modern Cohort: The FRANCEDYS Study Open
Fibrous dysplasia of bone (FD) is a rare genetic but sporadic bone disease that can be responsible for bone pain, fracture, and bone deformity. The prognosis may be difficult to establish because of the wide spectrum of disease severity. W…
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What Is the Role of Allogeneic Cortical Strut Grafts in the Treatment of Fibrous Dysplasia of the Proximal Femur? Open
Level IV, therapeutic study.
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Increased Risk of Breast Cancer at a Young Age in Women with Fibrous Dysplasia Open
Fibrous dysplasia (FD) is a rare bone disorder caused by mutations of the GNAS gene, which are also identified in malignancies. We explored the potential relationship between breast cancer and fibrous dysplasia in two fibrous dysplasia coh…
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RANKL Inhibition in Fibrous Dysplasia of Bone: A Preclinical Study in a Mouse Model of the Human Disease Open
Fibrous dysplasia of bone/McCune-Albright syndrome (Polyostotic FD/MAS; OMIM#174800) is a crippling skeletal disease caused by gain-of-function mutations of Gsα. Enhanced bone resorption is a recurrent histological feature of FD and a majo…
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Association of Hearing Loss and Otologic Outcomes With Fibrous Dysplasia Open
Hearing loss in craniofacial FD is common and mild to moderate in most individuals. It typically arises from FD crowding of the ossicular chain and elongation of the IAC, whereas EAC stenosis and otic capsule invasion are less common cause…
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Diagnosing and discriminating between primary and secondary aneurysmal bone cysts Open
Aneurysmal bone cysts (ABCs) are benign bony lesions frequently accompanied by multiple cystic lesions and aggressive bone destruction. They are relatively rare lesions, representing only 1% of bone tumors. The pathogenesis of ABCs has yet…
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Pain in fibrous dysplasia: relationship with anatomical and clinical features Open
Background and purpose - Fibrous dysplasia (FD) is a rare bone disorder associated with pain, deformities, and pathological fractures. The pathophysiological mechanism of FD-related pain remains ill-understood. We evaluated the degree of p…
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18F-N<span>a</span>F PET/CT IMAGING IN FIBROUS DYSPLASIA OF BONE Open
Fibrous dysplasia (FD) is a mosaic skeletal disorder resulting in fractures, deformity, and functional impairment. Clinical evaluation has been limited by a lack of surrogate endpoints capable of quantitating disease activity. The purpose …
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Magnetic resonance imaging characteristics in patients with histopathologically proven fibrous dysplasia—a systematic review Open
Objective To examine the demographics, lesion location, and characteristic magnetic resonance imaging (MRI) findings in patients with histopathologically proven fibrous dysplasia (FD). Materials and methods A systematic literature search o…
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Fibrous dysplasia of the jaws: Integrating molecular pathogenesis with clinical, radiological, and histopathological features Open
Fibrous dysplasia is a non‐neoplastic developmental process that affects the craniofacial bones, characterized by painless enlargement as a result of bone substitution by abnormal fibrous tissue. Postzygotic somatic activating mutations in…
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Scoliosis in Fibrous Dysplasia/McCune-Albright Syndrome: Factors Associated With Curve Progression and Effects of Bisphosphonates Open
Scoliosis is a complication of fibrous dysplasia/McCune-Albright syndrome (FD/MAS); however, risk factors and long-term outcomes are unknown. Bisphosphonates are commonly used; however, it is unknown whether their use decrease the risk of …
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Safety of therapy with and withdrawal from denosumab in fibrous dysplasia and McCune-Albright syndrome: an observational study Open
Denosumab (Dmab) treatment can benefit patients with fibrous dysplasia/McCune-Albright syndrome (FD/MAS) by suppressing the receptor activator of nuclear factor κB ligand (RANKL)-mediated increased bone resorption. However, limited data of…
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DIAGNOSIS OF ENDOCRINE DISEASE: Mosaic disorders of FGF23 excess: Fibrous dysplasia/McCune–Albright syndrome and cutaneous skeletal hypophosphatemia syndrome Open
Fibrous dysplasia/McCune–Albright Syndrome (FD/MAS), arising from gain-of-function mutations in Gα s , and cutaneous skeletal hypophosphatemia syndrome (CSHS), arising from gain-of-function mutations in the Ras/MAPK pathway, are strikingly…
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Aneurysmal bone cyst: a review Open
Aneurysmal bone cyst (ABC) is a benign locally destructive bone neoplasm composed of multi-loculated blood-filled cystic spaces. The most common sites of involvement are the meta-diaphysis of the long bones and posterior elements of the ve…
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Clinical and translational pharmacological aspects of the management of fibrous dysplasia of bone Open
Fibrous dysplasia (FD) is a genetic, noninheritable rare bone disease caused by a postzygotic activating mutation of the α subunit of the stimulatory G‐protein causing increased abnormal bone formation leading to pain, deformity and fractu…
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A Rare Skeletal Disorder, Fibrous Dysplasia: A Review of Its Pathogenesis and Therapeutic Prospects Open
Fibrous dysplasia (FD) is a rare, non-hereditary skeletal disorder characterized by its chronic course of non-neoplastic fibrous tissue buildup in place of healthy bone. A myriad of factors have been associated with its onset and progressi…
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Prevalence and Clinical Features of Mazabraud Syndrome Open
Background: Mazabraud syndrome is a rare disorder, characterized by the presence of fibrous dysplasia (FD) with associated intramuscular myxomas. Data are scarce on the prevalence, clinical features, and natural history of this disorder an…
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Fibrous Dysplasia of the Temporal Bone with External Auditory Canal Stenosis and Secondary Cholesteatoma Open
Fibrous dysplasia is a slowly progressive benign fibro-osseous disease, rarely occurring in temporal bones. In these cases, most bony lesions developed from the bony part of the external auditory canals, causing otalgia, hearing impairment…
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The need for bone biopsies in the diagnosis of new bone lesions in patients with a known primary malignancy: A comparative review of 117 biopsy cases Open
This study indicated that more than 1/5 of newly identified bone lesions in patients with a single known malignancy were not clinically associated with their primary tumors. Furthermore, 3.4% of these were newly discovered malignant bone t…