Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0151825 (bone pain)
 3,118 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Fibrous dysplasia of bone is a skeletal disease due to a specific mutation in the GNAS1 gene with a broad spectrum of clinical presentations ranging from isolated monostotic and polyostotic forms to associations with other extra-skeletal manifestations (McCune-Albright syndrome). The main complications are bone pain, deformities and fractures and sometimes cranial nerve compression and the development of bone sarcomas. Traumatologic surgery represents the principal approach in complicated lesions. Currently, the efficacy of pharmacological therapies is fairly limited. Cyclic administration of intravenous biphosphonates is the most effective approach to achieve symptomatic improvement and to lower the risk of fractures, although more evidence from well-designed randomized clinical trials evaluating the safety and efficacy of these treatments is still required. We present a case of polyostotic fibrous dysplasia of bone in a 19-year-old male.
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PMID:[Fibrous dysplasia of bone in a young male]. 1962 36

Fibrous Dysplasia is a benign fibro-osseous lesion occurring throughout the skeletal system with a predilection for craniofacial bones, long bones, and ribs. Fibrous dysplasia develops during bone formation and growth with a variable natural evolution. It is considered a genetic nonheritable disease resulting from missense mutations that occur postzygotically in the GNAS1 gene. This mutation leads to a focal congenital failure of proper bone formation and arrest at the woven bone stage. In turn, this leads to a decreased mechanical strength, causing bone pain, pathological fractures, and skeletal deformities. Besides clinical examination, fibrous dysplasia is diagnosed based on the results of radiographic imaging and the microscopic histopathological findings. On CT scan, fibrous dysplasia shows the characteristic "Ground-glass" appearance with well-defined borders. On MRI, fibrous dysplasia has a low signal intensity on T1-weighted MRI and variable signal intensity on T2-weighted MRI. We hereby report a case of an unusual presentation of fibrous dysplasia in a 67-year-old female presenting to the emergency department with generalized malaise and lower limb pain. Fibrous dysplasia may present in the elderly population and can be difficult to differentiate from other malignant and benign lesions affecting the skeletal system.
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PMID:Unusual Presentation of Fibrous Dysplasia in an Elderly Patient. 3156 69