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| Fibrous dysplasia | |
|---|---|
 | |
| Micrograph showing fibrous dysplasia with the characteristic thin, irregular bony trabeculae and fibrotic marrow space. H&E stain. | |
| Specialty | Medical genetics  |
| Symptoms | Bone pain, bone deformities, local swelling |
| Complications | Bone fractures |
| Usual onset | Adolescence or early adulthood (monostotic), before age 10 (polyostotic) |
| Types | Monostotic (75–80% of cases),[1] polyostotic, panostotic |
| Causes | Mutations of GNAS locus |
| Frequency | 1 in 5,000 to 10,000[1] |
Fibrous dysplasia is a very rare[2] nonhereditary genetic disorder where normal bone and marrow is replaced with fibrous tissue, resulting in formation of bone that is weak and prone to expansion. As a result, most complications result from fracture, deformity, functional impairment, pain, and the impingement of nerves.[3] Disease occurs along a broad clinical spectrum ranging from mostly asymptomatic incidental lesions, to severe disabling disease. Disease can affect one bone (monostotic), multiple (polyostotic), or all bones (panostotic)[4][5] and may occur in isolation or in combination with café au lait skin macules and hyperfunctioning endocrinopathies, termed McCune–Albright syndrome.[3] More rarely, fibrous dysplasia may be associated with intramuscular myxomas, termed Mazabraud's syndrome.[6] Fibrous dysplasia is very rare, and there is no known cure.[2] While fibrous dysplasia is not itself a form of cancer, in severe cases it may undergo a malignant transformation into cancers such as osteosarcoma or chondrosarcoma, so some clinicians may regard it as precancerous rather than benign.
- ^ a b Tafti, Dawood; Cecava, Nathan D. (2018-12-18). "Fibrous Dysplasia". NCBI Bookshelf. PMID 30422542. Retrieved 2019-12-08.
- ^ a b "Fibrous Dysplasia - OrthoInfo - AAOS". www.orthoinfo.org. Retrieved 2021-10-13.
- ^ a b Boyce, Alison M.; Collins, Michael T. (1993-01-01). Pagon, Roberta A.; Adam, Margaret P.; Ardinger, Holly H.; Wallace, Stephanie E.; Amemiya, Anne; Bean, Lora J.H.; Bird, Thomas D.; Fong, Chin-To; Mefford, Heather C. (eds.). Fibrous Dysplasia/McCune-Albright Syndrome. Seattle (WA): University of Washington, Seattle. PMID 25719192.
- ^ Cole DE; Fraser FC; Glorieux FH; Jequier S; Marie PJ; Reade TM; Scriver CR (14 Apr 1983). "Panostotic fibrous dysplasia: a congenital disorder of bone with unusual facial appearance, bone fragility, hyperphosphatasemia, and hypophosphatemia". American Journal of Medical Genetics. 14 (4) (4 ed.): 725–35. doi:10.1002/ajmg.1320140414. PMID 6846403.
- ^ Leslie WD; Reinhold C; Rosenthall L; Tau C; Glorieux FH (July 1992). "Panostotic fibrous dysplasia. A new craniotubular dysplasia". Clinical Nuclear Medicine. 17 (7) (7 ed.): 556–60. doi:10.1097/00003072-199207000-00005. PMID 1638836. S2CID 43035832.
- ^ Cabral, C. E.; Guedes, P.; Fonseca, T.; Rezende, J. F.; Cruz Júnior, L. C.; Smith, J. (1998-05-01). "Polyostotic fibrous dysplasia associated with intramuscular myxomas: Mazabraud's syndrome". Skeletal Radiology. 27 (5): 278–282. doi:10.1007/s002560050381. ISSN 0364-2348. PMID 9638839. S2CID 6558881.