Back خلل التنسج الليفي للعظم Arabic Fibröse Dysplasie German Ινώδης δυσπλασία των οστών Greek Displasia fibrosa Spanish Dysplasie fibreuse des os French Օստեոդիսպլազիա Armenian Displasia fibrosa Italian 섬유이형성증 Korean Fibreuze dysplasie Dutch Dysplazja włóknista kości Polish
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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.