Fibrous dysplasia of the maxilla: diagnostic reliability of the study image. Literature review.
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ABSTRACT:
SUBMITTER: Fusconi M
PROVIDER: S-EPMC3836811 | biostudies-other | 2013 Dec
REPOSITORIES: biostudies-other
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Project description:Fibrous dysplasia is a benign, congenital skeletal disorder which leads to the formation of fibro-osseous intramedullary bone lesions. Clival fibrous dysplasia is a rare variant which commonly presents asymptomatically with no findings on examination and is often picked up incidentally on radiological investigation. A 39-year-old female presented with a sudden onset headache of 3 days' duration alongside diplopia and right lower limb weakness upon examination. Computerized tomography head scan revealed an expansile clivus with a ground-glass appearance, magnetic resonance imaging brain scan revealed a predominantly hypointense signal on T1- and T2-weighted images and subsequent whole-body bone imaging confirmed the diagnosis of monostotic clival fibrous dysplasia. This case highlights the importance of considering monostotic clival fibrous dysplasia as a differential diagnosis in patients presenting with sudden onset symptoms of headache alongside cranial and peripheral nerve involvement, when other more sinister causes have been excluded.
| S-EPMC7708769 | biostudies-literature
Project description:RationaleFibrous dysplasia is a rare disorder that results in fractures, pain, and disability and can affect any bone in the body. The treatment of symptomatic fibrous dysplasia is determined based on the affected bones. Although some lesions are often too extensive for surgical procedures, there are currently no effective or recommended medical treatments available for them.Patient concernsA 27-year-old woman developed right buttock pain and was diagnosed with a bone tumor in the right ilium. Clinical images revealed an expansive osteolytic lesion with thinning of the cortex and cystic change from the acetabulum to the sacroiliac joint.DiagnosisAn incisional biopsy was performed, and the lesion was diagnosed as cystic fibrous dysplasia. Occasional osteoclast-like giant cells and woven bone were observed. The patient had no evidence of polyostotic lesions or findings of McCune-Albright syndrome. Biochemical blood test results showed no obvious abnormal values, except for an increase in serum tartrate-resistant acid phosphatase 5b to 459 mU/dL.InterventionsSince surgical treatment appeared to be challenging, she was treated with denosumab with decreased dose-intensity schedules.OutcomesThe administration of denosumab caused osteosclerosis within the lesion, resulting in the elimination of bone pain. The patient received denosumab treatment for 18 months. Pain relief and lesion radiodensity were maintained for 9 months after denosumab discontinuation. The serum level of tartrate-resistant acid phosphatase 5b was measured to monitor the response to denosumab, which was suppressed during denosumab treatment.LessonsWe described successful denosumab treatment in a patient with cystic fibrous dysplasia (FD) who maintained efficacy for 9 months after treatment. Although the use of denosumab in fibrous dysplasia is currently off-label, our experience with this patient supports the potential of denosumab therapy for patients for whom surgical treatment is challenging.
| S-EPMC8663861 | biostudies-literature
Project description:Fibrous dysplasia (FD) is a fibroosseous lesion of the osseous structures of the body. It is not a commonly reported lesion yet it is considered as an important lesion which can affect the maxillofacial region as well. As a result, it can cause deformity of the jaw bones which can further lead to severe facial asymmetry. Craniofacial fibrous dysplasia (CFD) is one of the subtypes of FD that can affect the bones of the craniofacial complex, including the mandible and maxilla. It can also present as facial asymmetry and can be investigated with the help of Maxillofacial Radiology and Imaging. The radiographic findings may vary according to the extent and degree of the disease. Although conventional radiographs provide a good clue regarding the lesion, advanced maxillofacial imaging is capable of providing detailed extent of the disease. Furthermore the classification of CFD is not very clear in the literature.This particular paper attempts to document and report the CT appearance of CFD with an attempt to propose a better classification system for the same. Four different patients are reported which presented with FD with involvement of bones of craniofacial region. Working diagnosis of CFD was made with the help of clinical features as well as with radiographic assessment. Advanced imaging included CT scan of the lesions. The article highlights the importance of computed tomography in diagnosis as well as assessment of extent of the disease.It can be concluded that the Dental professionals must be aware regarding the different radiographic appearances of CFD. Advanced imaging modality like CT can provide with exact diagnosis as well as extent of the lesions like FD. Further collaboration of researchers is required to incorporate this proposed change in classification of CFD.
| S-EPMC5543691 | biostudies-other
Project description:Fibrous dysplasia (FD) is a skeletal disease caused by somatic activating mutations of the cyclic adenosine monophosphate (cAMP)-regulating protein, α-subunit of the Gs stimulatory protein (G(s) α). These mutations lead to replacement of normal bone by proliferative osteogenic precursors, resulting in deformity, fracture, and pain. Medical treatment has been ineffective in altering the disease course. Receptor activator of NF-κB ligand (RANKL) is a cell-surface protein involved in many cellular processes, including osteoclastogenesis, and is reported to be overexpressed in FD-like bone cells. Denosumab is a humanized monoclonal antibody to RANKL approved for treatment of osteoporosis and prevention of skeletal-related events from bone metastases. We present the case of a 9-year-old boy with severe FD who was treated with denosumab for a rapidly expanding femoral lesion. Immunohistochemical staining on a pretreatment bone biopsy specimen revealed marked RANKL expression. He was started on monthly denosumab, with an initial starting dose of 1 mg/kg and planned 0.25 mg/kg dose escalations every 3 months. Over 7 months of treatment he showed marked reduction in pain, bone turnover markers (BTMs), and tumor growth rate. Denosumab did not appear to impair healing of a femoral fracture that occurred while on treatment. With initiation of treatment he developed hypophosphatemia and secondary hyperparathyroidism, necessitating supplementation with phosphorus, calcium, and calcitriol. BTMs showed rapid and sustained suppression. With discontinuation there was rapid and dramatic rebound of BTMs with cross-linked C-telopeptide (reflecting osteoclast activity) exceeding pretreatment levels, accompanied by severe hypercalcemia. In this child, denosumab lead to dramatic reduction of FD expansion and FD-related bone pain. Denosumab was associated with clinically significant disturbances of mineral metabolism both while on treatment and after discontinuation. Denosumab treatment of FD warrants further study to confirm efficacy and determine potential morbidity, as well as to determine the mechanism of RANKL in the pathogenesis of FD and related bone marrow stromal cell diseases.
| S-EPMC3377825 | biostudies-literature
Project description:Endoscopic ultrasonography (EUS) has been applied to the diagnosis of various digestive disorders. Although it has been widely accepted and its diagnostic value is high, the dependence of EUS diagnosis on image interpretation done by the endosonographer has persisted as an important difficulty. Consequently, high interobserver reliability (IOR) in EUS diagnosis is important to demonstrate the reliability of EUS diagnosis. We reviewed the literature on the IOR of EUS diagnosis for various diseases such as chronic pancreatitis, pancreatic solid/cystic mass, lymphadenopathy, and gastrointestinal and subepithelial lesions. The IOR of EUS diagnosis differs depending on the disease; moreover, EUS findings with high IOR and those with IOR that was not necessarily high were used as diagnostic criteria. Therefore, to further increase the value of EUS diagnosis, EUS diagnostic criteria with high diagnostic characteristics based on EUS findings with high IOR must be established.
| S-EPMC7696989 | biostudies-literature
Project description:Large-scale transcriptome and methylome data analyses obtained by high-throughput technologies have been enabling the identification of novel imprinted genes. We investigated genome-wide DNA methylation patterns in multiple human tissues, using a high-resolution microarray to uncover hemimethylated CpGs located in promoters overlapping CpG islands, aiming to identify novel candidate imprinted genes. Using our approach, we recovered ~30% of the known human imprinted genes, further 168 candidates were identified, 61 of which with at least three hemimethylated CpGs shared by more than two tissue types. Thirty-four of these candidate genes are members of the protocadherins cluster on 5q31.3; in mice, protocadherin genes have non-imprinted monoallelic randomic expression, which might be the case in humans. Among the remaining 27 genes, ZNF331 was recently validated as an imprinted gene, and six of them have been reported as candidates, supporting our prediction. Five candidates (CCDC166, ARC, PLEC, TONSL and VPS28) map to 8q24.3, and might constitute a novel imprinted cluster. Additionally, we performed a comprehensive compilation of known human and mice imprinted genes from literature and databases, and a comparison among high-throughput imprinting studies in humans. The screening for hemimethylated CpGs shared by multiple human tissues, together with the extensive review, appears as a useful approach to reveal candidate imprinted genes.
2017-09-26 | GSE103413 | GEO
Project description:Solitary Fibrous Tumors (SFT) is a relatively rare occupying lesion, which often originated from the pleura and has been reported in a series of reports. However, there are few reports on retroperitoneal SFT. To better understand its biological behavior, clinical diagnosis and follow-up strategy, this case studied the manifestations, diagnosis and treatment of retroperitoneal SFT in a 57-year-old woman, and reviewed the relevant literature.
| S-EPMC6796658 | biostudies-literature
Project description:Fibroblast growth factor-23 (FGF23) is a phosphate- and vitamin D-regulating hormone derived from osteoblasts/osteocytes that circulates in both active (intact, iFGF23) and inactive (C-terminal, cFGF23) forms. O-glycosylation by O-glycosyl transferase N-acetylgalactosaminyltransferase 3 (ppGalNAcT3) and differential cleavage by furin have been shown to be involved in regulating the ratio of active to inactive FGF23. Elevated iFGF23 levels are observed in a number of hypophosphatemic disorders, such as X-linked, autosomal recessive, and autosomal dominant hypophosphatemic rickets, whereas low iFGF23 levels are found in the hyperphosphatemic disorder familial tumoral calcinosis/hyperphosphatemic hyperostosis syndrome. Fibrous dysplasia of bone (FD) is associated with increased total FGF23 levels (cFGF23 + iFGF23); however, classic hypophosphatemic rickets is uncommon. Our results suggest that it can be explained by increased FGF23 cleavage leading to an increase in inactive cFGF23 relative to active iFGF23. Given the fact that FD is caused by activating mutations in the small G-protein G(s) α that results in increased cyclic adenosine monophosphate (cAMP) levels, we postulated that there may be altered FGF23 cleavage in FD and that the mechanism may involve alterations in cAMP levels and ppGalNacT3 and furin activities. Analysis of blood specimens from patients with FD confirmed that the elevated total FGF23 levels are the result of proportionally increased cFGF23 levels, consistent with less glycosylation and enhanced cleavage by furin. Analysis of primary cell lines of normal and mutation-harboring bone marrow stromal cells (BMSCs) from patients with FD demonstrated that BMSCs harboring the causative G(s) α mutation had higher cAMP levels, lower ppGalNAcT3, and higher furin activity. These data support the model wherein glycosylation by ppGalNAcT3 inhibits FGF23 cleavage by furin and suggest that FGF23 processing is a regulated process that controls overall FGF23 activity in FD patients.
| S-EPMC7448291 | biostudies-literature
Project description: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 of the MRI findings in patients with histologically proven FD was performed. Altogether, 76 articles with 136 patients were evaluated. RESULTS:The mean age of the patients was 35.0?+?-?18.5 years (range 1 month-75 years). Fifty-eight of the cases were females, 51 males, and in 27 gender was not defined. The most common locations were craniofacial (n?=?55 (40%)), long bones (n?=?31 (23%)), and spine (n?=?24 (18%)). The monostotic form of FD was the most common. Signal intensities (SI) on T1-weighted images were predominantly hypointense (n?=?46 (37%)). The SI was highly variable on T2-weighted images with hyperintensity being most common (n?=?22 (18%)). Contrast enhancement was found in 75 (55%) FD patients. Secondary aneurysmal bone cysts (ABCs) and malignant transformation in patients without prior radiotherapy was found in some patients. CONCLUSION:Current knowledge of the MRI findings in patients with FD is based mainly on case reports. SI in patients with FD is variable and contrast enhancement is common. FD may explain etiology of spinal bone tumor in some patients. FD with malignant transformation should be considered also in patients without prior radiotherapy. Further studies are needed to clarify if FD displays specific characteristics allowing it to be distinguished from other bone tumors.
| S-EPMC7170814 | biostudies-literature
Project description:BackgroundFibromuscular dysplasia (FMD) is a rare noninflammatory, nonatherosclerotic arteriopathy of medium-sized arteries affecting up to 7% of the population. The disease can affect any artery but commonly affects renal, extracranial carotid, and vertebral arteries. The epidemiology and natural course of cerebrovascular FMD is unknown and requires further investigation.MethodsWe present demographic and outcomes data on a case series of 81 patients with cerebrovascular FMD from Massachusetts General Hospital presenting between 2011 and 2015 followed by a review of the peer-reviewed literature.ResultsPatients were a median age of 53 years (±12 SD) and the majority were women. Approximately 50% had a history of tobacco use and more than two-thirds had hypertension. Most patients were on monoplatelet therapy with aspirin; during follow-up, 7 of 67 had progressive disease or additional symptoms. One of 67 patients had a cerebrovascular event: TIA. There were 5 of 67 who had noncerebrovascular events or disease progression and 1 death of unclear cause.ConclusionsCerebrovascular FMD may present with myriad symptoms. Our data support that patients with FMD with symptomatic disease have a low rate of recurrent symptoms or disease progression and can be managed conservatively with stroke risk modification, antiplatelet agents, surveillance imaging, and counseling.
| S-EPMC5490381 | biostudies-literature