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Fibrous dysplasia

MedGen UID:
120444
Concept ID:
C0259779
Neoplastic Process
Synonym: Fibrous dysplasia of the bones
SNOMED CT: Fibrous dysplasia of bone (10623005); Osteitis fibrosa (10623005); Fibrous dysplasia (789439000); Jaffe-Lichtenstein syndrome (10623005)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
HPO: HP:0010734
Monarch Initiative: MONDO:0000845
Orphanet: ORPHA249

Definition

Tumor-like growths that consist of replacement of the medullary bone with fibrous tissue, causing the expansion and weakening of the areas of bone involved. Especially when involving the skull or facial bones, the lesions can cause externally visible deformities. The skull is often, but not necessarily, affected, and any other bone or bones may be involved. Fibrous dysplasia can either effect isolated bones (Monostotic fibrous dysplasia) or also generalized all bones of the body (Polyostotic fibrous dysplasia). [from HPO]

Professional guidelines

PubMed

Gun ZH, Arif A, Boyce AM
Curr Opin Endocrinol Diabetes Obes 2024 Feb 1;31(1):60-66. Epub 2023 Nov 27 doi: 10.1097/MED.0000000000000847. PMID: 38010041
Javaid MK, Boyce A, Appelman-Dijkstra N, Ong J, Defabianis P, Offiah A, Arundel P, Shaw N, Pos VD, Underhil A, Portero D, Heral L, Heegaard AM, Masi L, Monsell F, Stanton R, Dijkstra PDS, Brandi ML, Chapurlat R, Hamdy NAT, Collins MT
Orphanet J Rare Dis 2019 Jun 13;14(1):139. doi: 10.1186/s13023-019-1102-9. PMID: 31196103Free PMC Article
DiCaprio MR, Enneking WF
J Bone Joint Surg Am 2005 Aug;87(8):1848-64. doi: 10.2106/JBJS.D.02942. PMID: 16085630

Recent clinical studies

Etiology

Bouet B, Schlund M, De Massary M, Nicot R
J Stomatol Oral Maxillofac Surg 2023 Dec;124(6S2):101660. Epub 2023 Oct 20 doi: 10.1016/j.jormas.2023.101660. PMID: 37866506
Hung C, Shibli-Rahhal A
Endocr Pract 2022 Nov;28(11):1196-1201. Epub 2022 Aug 8 doi: 10.1016/j.eprac.2022.07.012. PMID: 35952985
Javaid MK, Boyce A, Appelman-Dijkstra N, Ong J, Defabianis P, Offiah A, Arundel P, Shaw N, Pos VD, Underhil A, Portero D, Heral L, Heegaard AM, Masi L, Monsell F, Stanton R, Dijkstra PDS, Brandi ML, Chapurlat R, Hamdy NAT, Collins MT
Orphanet J Rare Dis 2019 Jun 13;14(1):139. doi: 10.1186/s13023-019-1102-9. PMID: 31196103Free PMC Article
DiCaprio MR, Enneking WF
J Bone Joint Surg Am 2005 Aug;87(8):1848-64. doi: 10.2106/JBJS.D.02942. PMID: 16085630
Parekh SG, Donthineni-Rao R, Ricchetti E, Lackman RD
J Am Acad Orthop Surg 2004 Sep-Oct;12(5):305-13. doi: 10.5435/00124635-200409000-00005. PMID: 15469225

Diagnosis

Gun ZH, Arif A, Boyce AM
Curr Opin Endocrinol Diabetes Obes 2024 Feb 1;31(1):60-66. Epub 2023 Nov 27 doi: 10.1097/MED.0000000000000847. PMID: 38010041
Szymczuk V, Taylor J, Boyce AM
Curr Osteoporos Rep 2023 Apr;21(2):147-153. Epub 2023 Feb 28 doi: 10.1007/s11914-023-00779-6. PMID: 36849642Free PMC Article
Javaid MK, Boyce A, Appelman-Dijkstra N, Ong J, Defabianis P, Offiah A, Arundel P, Shaw N, Pos VD, Underhil A, Portero D, Heral L, Heegaard AM, Masi L, Monsell F, Stanton R, Dijkstra PDS, Brandi ML, Chapurlat R, Hamdy NAT, Collins MT
Orphanet J Rare Dis 2019 Jun 13;14(1):139. doi: 10.1186/s13023-019-1102-9. PMID: 31196103Free PMC Article
Burke AB, Collins MT, Boyce AM
Oral Dis 2017 Sep;23(6):697-708. Epub 2016 Sep 1 doi: 10.1111/odi.12563. PMID: 27493082Free PMC Article
DiCaprio MR, Enneking WF
J Bone Joint Surg Am 2005 Aug;87(8):1848-64. doi: 10.2106/JBJS.D.02942. PMID: 16085630

Therapy

Gun ZH, Arif A, Boyce AM
Curr Opin Endocrinol Diabetes Obes 2024 Feb 1;31(1):60-66. Epub 2023 Nov 27 doi: 10.1097/MED.0000000000000847. PMID: 38010041
Kritmetapak K, Kumar R
Endocr Pract 2023 Jan;29(1):69-79. Epub 2022 Oct 7 doi: 10.1016/j.eprac.2022.09.007. PMID: 36210014
Simm PJ, Biggin A, Zacharin MR, Rodda CP, Tham E, Siafarikas A, Jefferies C, Hofman PL, Jensen DE, Woodhead H, Brown J, Wheeler BJ, Brookes D, Lafferty A, Munns CF; APEG Bone Mineral Working Group
J Paediatr Child Health 2018 Mar;54(3):223-233. doi: 10.1111/jpc.13768. PMID: 29504223
DiCaprio MR, Enneking WF
J Bone Joint Surg Am 2005 Aug;87(8):1848-64. doi: 10.2106/JBJS.D.02942. PMID: 16085630
Parekh SG, Donthineni-Rao R, Ricchetti E, Lackman RD
J Am Acad Orthop Surg 2004 Sep-Oct;12(5):305-13. doi: 10.5435/00124635-200409000-00005. PMID: 15469225

Prognosis

Spencer T, Pan KS, Collins MT, Boyce AM
Horm Res Paediatr 2019;92(6):347-356. Epub 2019 Dec 19 doi: 10.1159/000504802. PMID: 31865341Free PMC Article
Riddle ND, Bui MM
Arch Pathol Lab Med 2013 Jan;137(1):134-8. doi: 10.5858/arpa.2012.0013-RS. PMID: 23276185
Ricalde P, Magliocca KR, Lee JS
Oral Maxillofac Surg Clin North Am 2012 Aug;24(3):427-41. Epub 2012 Jul 6 doi: 10.1016/j.coms.2012.05.004. PMID: 22771278
Most MJ, Sim FH, Inwards CY
J Am Acad Orthop Surg 2010 Jun;18(6):358-66. doi: 10.5435/00124635-201006000-00008. PMID: 20511441
Parekh SG, Donthineni-Rao R, Ricchetti E, Lackman RD
J Am Acad Orthop Surg 2004 Sep-Oct;12(5):305-13. doi: 10.5435/00124635-200409000-00005. PMID: 15469225

Clinical prediction guides

Lietman SA, Levine MA
Pediatr Endocrinol Rev 2013 Jun;10 Suppl 2:389-96. PMID: 23858622
Ricalde P, Magliocca KR, Lee JS
Oral Maxillofac Surg Clin North Am 2012 Aug;24(3):427-41. Epub 2012 Jul 6 doi: 10.1016/j.coms.2012.05.004. PMID: 22771278
Most MJ, Sim FH, Inwards CY
J Am Acad Orthop Surg 2010 Jun;18(6):358-66. doi: 10.5435/00124635-201006000-00008. PMID: 20511441
DiCaprio MR, Enneking WF
J Bone Joint Surg Am 2005 Aug;87(8):1848-64. doi: 10.2106/JBJS.D.02942. PMID: 16085630
Clayton RN
Baillieres Clin Endocrinol Metab 1996 Jan;10(1):1-8. doi: 10.1016/s0950-351x(96)80250-3. PMID: 8734448

Recent systematic reviews

Bouet B, Schlund M, De Massary M, Nicot R
J Stomatol Oral Maxillofac Surg 2023 Dec;124(6S2):101660. Epub 2023 Oct 20 doi: 10.1016/j.jormas.2023.101660. PMID: 37866506
Bertin H, Moussa MS, Komarova S
Rev Endocr Metab Disord 2023 Dec;24(6):1103-1119. Epub 2023 Aug 26 doi: 10.1007/s11154-023-09832-2. PMID: 37632645
Dalle Carbonare M, Manisali M
Br J Oral Maxillofac Surg 2022 Nov;60(9):1166-1175. Epub 2022 Jun 16 doi: 10.1016/j.bjoms.2022.06.002. PMID: 35817637
Fandiño M, Bhimrao SK, Saxby AJ, Dar Santos RC, Westerberg BD
Otol Neurotol 2014 Dec;35(10):1698-706. doi: 10.1097/MAO.0000000000000602. PMID: 25280053
MacDonald-Jankowski D
Dentomaxillofac Radiol 2009 May;38(4):196-215. doi: 10.1259/dmfr/16645318. PMID: 19372108

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