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Osteolysis

MedGen UID:
1648424
Concept ID:
C4721411
Pathologic Function
Synonym: Osteolyses
SNOMED CT: Osteolysis (203522001); Osteolysis (30425001)
 
HPO: HP:0002797

Definition

Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium. [from HPO]

Conditions with this feature

Hutchinson-Gilford syndrome
MedGen UID:
46123
Concept ID:
C0033300
Disease or Syndrome
Hutchinson-Gilford progeria syndrome (HGPS) is characterized by clinical features that typically develop in childhood and resemble some features of accelerated aging. Children with HGPS usually appear normal at birth. Profound failure to thrive occurs during the first year. Characteristic facial features include head that is disproportionately large for the face, narrow nasal ridge, narrow nasal tip, thin vermilion of the upper and lower lips, small mouth, and retro- and micrognathia. Common features include loss of subcutaneous fat, delayed eruption and loss of primary teeth, abnormal skin with small outpouchings over the abdomen and upper thighs, alopecia, nail dystrophy, coxa valga, and progressive joint contractures. Later findings include low-frequency conductive hearing loss, dental crowding, and partial lack of secondary tooth eruption. Motor and mental development is normal. Death occurs as a result of complications of severe atherosclerosis, either cardiac disease (myocardial infarction or heart failure) or cerebrovascular disease (stroke), generally between ages six and 20 years. Average life span is approximately 14.5 years.
Cutaneous porphyria
MedGen UID:
102408
Concept ID:
C0162530
Disease or Syndrome
Congenital erythropoietic porphyria (CEP) is characterized in most individuals by severe cutaneous photosensitivity with blistering and increased friability of the skin over light-exposed areas. Onset in most affected individuals occurs at birth or early infancy. The first manifestation is often pink-to-dark red discoloration of the urine. Hemolytic anemia is common and can range from mild to severe, with some affected individuals requiring chronic blood transfusions. Porphyrin deposition may lead to corneal ulcers and scarring, reddish-brown discoloration of the teeth (erythrodontia), and bone loss and/or expansion of the bone marrow. The phenotypic spectrum, however, is broad and ranges from nonimmune hydrops fetalis in utero to late-onset disease with only mild cutaneous manifestations in adulthood.
Familial expansile osteolysis
MedGen UID:
96593
Concept ID:
C0432292
Congenital Abnormality
Familial expansile osteolysis is an autosomal dominant bone dysplasia characterized by increased bone remodeling with osteolytic lesions mainly affecting the appendicular skeleton. There is medullary and cortical expansion of the bone without sclerosis, leading to painful and disabling deformities and tendency to pathologic fracture. Clinical features include onset of conductive hearing loss in childhood, premature loss of teeth, and variably increased serum alkaline phosphatase (summary by Palenzuela et al., 2002 and Elahi et al., 2007).
Paget disease of bone 4
MedGen UID:
339991
Concept ID:
C1853473
Disease or Syndrome
Sterile multifocal osteomyelitis with periostitis and pustulosis
MedGen UID:
411230
Concept ID:
C2748507
Disease or Syndrome
Chronic recurrent multifocal osteomyelitis-2 with periostitis and pustulosis (CRMO2) is an autosomal recessive multisystemic autoinflammatory disorder characterized by onset of symptoms in early infancy. Affected individuals present with joint swelling and pain, pustular rash, oral mucosal lesions, and fetal distress. The disorder progresses in severity to generalized severe pustulosis or ichthyosiform lesions and diffuse bone lesions. Radiographic studies show widening of the anterior rib ends, periosteal elevation along multiple long bones, multifocal osteolytic lesions, heterotopic ossification, and metaphyseal erosions of the long bones. Laboratory studies show elevation of inflammatory markers. The disorder results from unopposed activation of the IL1 inflammatory signaling pathway. Treatment with the interleukin-1 receptor antagonist anakinra may result in clinical improvement (Aksentijevich et al., 2009). For a discussion of genetic heterogeneity of CRMO, see 609628.
Nestor-Guillermo progeria syndrome
MedGen UID:
462796
Concept ID:
C3151446
Disease or Syndrome
Nestor-Guillermo progeria syndrome (NGPS) is an autosomal recessive disorder characterized by lipoatrophy, osteoporosis, and very severe osteolysis. Patients have no cardiovascular impairment, diabetes mellitus, or hypertriglyceridemia, but suffer profound skeletal abnormalities that affect their quality of life. Onset is after 2 years of age, and lifespan is relatively long (summary by Cabanillas et al., 2011).
Paget disease of bone 2, early-onset
MedGen UID:
899166
Concept ID:
C4085251
Disease or Syndrome
Paget disease is a metabolic bone disease characterized by focal abnormalities of increased bone turnover affecting one or more sites throughout the skeleton, primarily the axial skeleton. Bone lesions in this disorder show evidence of increased osteoclastic bone resorption and disorganized bone structure. See reviews by Ralston et al. (2008) and Ralston and Albagha (2014). For a discussion of genetic heterogeneity of Paget disease of bone, see 167250.
Paget disease of bone 3
MedGen UID:
895927
Concept ID:
C4085252
Disease or Syndrome
Paget disease is a metabolic bone disease characterized by focal abnormalities of increased bone turnover affecting one or more sites throughout the skeleton, primarily the axial skeleton. Bone lesions in this disorder show evidence of increased osteoclastic bone resorption and disorganized bone structure. See reviews by Ralston et al. (2008) and Ralston and Albagha (2014). Genetic Heterogeneity of Paget Disease of Bone Also see PDB2 (602080), caused by mutation in the TNFRSF11A gene (603499) on chromosome 18q21; PDB4 (606263), mapped to chromosome 5q31; PDB5 (239000), caused by mutation in the TNFRSF11B gene (602643) on chromosome 8q24; and PDB6 (616833), caused by mutation in the ZNF687 gene (610568) on chromosome 1q21. Suggestive linkage of a form of PDB to chromosome 6p (PDB1) was reported by Fotino et al. (1977); however, further studies did not confirm linkage to this site (Moore and Hoffman, 1988; Nance et al., 2000; Good et al., 2001).
Hyaline fibromatosis syndrome
MedGen UID:
1805033
Concept ID:
C5574677
Disease or Syndrome
Hyaline fibromatosis syndrome (HFS) is characterized by hyaline deposits in the papillary dermis and other tissues. It can present at birth or in infancy with severe pain with movement, progressive joint contractures, and often with severe motor disability, thickened skin, and hyperpigmented macules/patches over bony prominences of the joints. Gingival hypertrophy, skin nodules, pearly papules of the face and neck, and perianal masses are common. Complications of protein-losing enteropathy and failure to thrive can be life threatening. Cognitive development is normal. Many children with the severe form (previously called infantile systemic hyalinosis) have a significant risk of morbidity or mortality in early childhood; some with a milder phenotype (previously called juvenile hyaline fibromatosis) survive into adulthood.

Professional guidelines

PubMed

Bailey CT, Zelaya R, Kayder OO, Cecava ND
Skeletal Radiol 2023 Jan;52(1):9-22. Epub 2022 Aug 15 doi: 10.1007/s00256-022-04145-y. PMID: 35969258
Goodman SB, Gallo J, Gibon E, Takagi M
Expert Rev Med Devices 2020 Jan;17(1):41-56. Epub 2019 Dec 17 doi: 10.1080/17434440.2020.1702024. PMID: 31810395Free PMC Article
DeFroda SF, Nacca C, Waryasz GR, Owens BD
Orthopedics 2017 Mar 1;40(2):119-124. Epub 2016 Dec 7 doi: 10.3928/01477447-20161128-03. PMID: 27925640

Recent clinical studies

Etiology

Lee HY, Cheon SJ, Seo H, Lee BY, Nam JH, Lee DY
Knee Surg Sports Traumatol Arthrosc 2021 Dec;29(12):3910-3920. Epub 2020 Oct 22 doi: 10.1007/s00167-020-06328-3. PMID: 33090240
Sheth NP, Rozell JC, Paprosky WG
J Am Acad Orthop Surg 2019 Mar 15;27(6):e258-e267. doi: 10.5435/JAAOS-D-16-00685. PMID: 30325878
Botou A, Bangeas A, Alexiou I, Sakkas LI
Clin Rheumatol 2017 Jan;36(1):9-14. Epub 2016 Oct 29 doi: 10.1007/s10067-016-3459-7. PMID: 27796661
Sumner DR, Ross R, Purdue E
Clin Orthop Relat Res 2014 Dec;472(12):3728-39. doi: 10.1007/s11999-014-3580-3. PMID: 24668073Free PMC Article
Kurtz SM, Gawel HA, Patel JD
Clin Orthop Relat Res 2011 Aug;469(8):2262-77. doi: 10.1007/s11999-011-1872-4. PMID: 21431461Free PMC Article

Diagnosis

Xiang J, Zhong W
Front Immunol 2023;14:1165091. Epub 2023 May 5 doi: 10.3389/fimmu.2023.1165091. PMID: 37215116Free PMC Article
Bailey CT, Zelaya R, Kayder OO, Cecava ND
Skeletal Radiol 2023 Jan;52(1):9-22. Epub 2022 Aug 15 doi: 10.1007/s00256-022-04145-y. PMID: 35969258
Chaudry G
Tech Vasc Interv Radiol 2019 Dec;22(4):100632. Epub 2019 Sep 21 doi: 10.1016/j.tvir.2019.100632. PMID: 31864531
DeFroda SF, Nacca C, Waryasz GR, Owens BD
Orthopedics 2017 Mar 1;40(2):119-124. Epub 2016 Dec 7 doi: 10.3928/01477447-20161128-03. PMID: 27925640
Trenor CC 3rd, Chaudry G
Semin Pediatr Surg 2014 Aug;23(4):186-90. Epub 2014 Jul 22 doi: 10.1053/j.sempedsurg.2014.07.006. PMID: 25241096

Therapy

Kim JA, Lim S, Ihn HJ, Kim JE, Yea K, Moon J, Choi H, Park EK
Mol Med Rep 2023 Nov;28(5) Epub 2023 Sep 21 doi: 10.3892/mmr.2023.13092. PMID: 37732549Free PMC Article
Kurcz B, Lyons J, Sayeed Z, Anoushiravani AA, Iorio R
Orthop Clin North Am 2018 Oct;49(4):419-435. doi: 10.1016/j.ocl.2018.06.001. PMID: 30224004
Liu SZ, Zhou X, Song A, Wang YP, Liu Y
QJM 2018 Dec 1;111(12):911-912. doi: 10.1093/qjmed/hcy150. PMID: 29986084
Mavrogenis AF, Zambirinis CP, Dimitriadis PA, Tsakanikas A, Papagelopoulos PJ
J Surg Orthop Adv 2010 Summer;19(2):85-90. PMID: 20727303
Kellihan MJ, Mangino PD
Ann Pharmacother 1992 Oct;26(10):1262-9. doi: 10.1177/106002809202601015. PMID: 1421653

Prognosis

Dalmas Y, Thélu CE, Laumonerie P, Martinel V, Robert S, Mansat P, Bonnevialle N
J Shoulder Elbow Surg 2022 Dec;31(12):e603-e612. Epub 2022 May 10 doi: 10.1016/j.jse.2022.04.004. PMID: 35562033
Malahias MA, Ma QL, Jang SJ, Loucas M, Gu A, Gkiatas I, Sedran JC, Nikolaou VS, Sculco PK
Eur J Orthop Surg Traumatol 2022 Dec;32(8):1459-1468. Epub 2021 Oct 4 doi: 10.1007/s00590-021-03130-w. PMID: 34605989
Kurcz B, Lyons J, Sayeed Z, Anoushiravani AA, Iorio R
Orthop Clin North Am 2018 Oct;49(4):419-435. doi: 10.1016/j.ocl.2018.06.001. PMID: 30224004
Valenzuela A, Song P, Chung L
Curr Opin Rheumatol 2018 Nov;30(6):554-561. doi: 10.1097/BOR.0000000000000539. PMID: 30124603
Ozeki M, Fujino A, Matsuoka K, Nosaka S, Kuroda T, Fukao T
Pediatr Blood Cancer 2016 May;63(5):832-8. Epub 2016 Jan 25 doi: 10.1002/pbc.25914. PMID: 26806875

Clinical prediction guides

Ishaq T, Loid P, Ishaq HA, Seo GH, Mäkitie O, Naz S
BMC Musculoskelet Disord 2023 Sep 14;24(1):735. doi: 10.1186/s12891-023-06856-2. PMID: 37710205Free PMC Article
Guerra MG, Rodrigues M, Águeda A, Rodrigues J, Marona J, Violante A, Oliveira M
J Rheumatol 2023 Jul;50(7):863-872. Epub 2023 Feb 1 doi: 10.3899/jrheum.220626. PMID: 36725053
Lim HK, Choi YJ, Choi WC, Song IS, Lee UL
Sci Rep 2022 May 9;12(1):7538. doi: 10.1038/s41598-022-11200-0. PMID: 35534499Free PMC Article
Lee HY, Cheon SJ, Seo H, Lee BY, Nam JH, Lee DY
Knee Surg Sports Traumatol Arthrosc 2021 Dec;29(12):3910-3920. Epub 2020 Oct 22 doi: 10.1007/s00167-020-06328-3. PMID: 33090240
Chaudry G
Tech Vasc Interv Radiol 2019 Dec;22(4):100632. Epub 2019 Sep 21 doi: 10.1016/j.tvir.2019.100632. PMID: 31864531

Recent systematic reviews

Bistolfi A, Giustra F, Bosco F, Faccenda C, Viotto M, Sabatini L, Berchialla P, Sciannameo V, Graziano E, Massè A
Knee Surg Sports Traumatol Arthrosc 2022 Sep;30(9):3120-3130. Epub 2022 Feb 19 doi: 10.1007/s00167-022-06879-7. PMID: 35182171Free PMC Article
Lee HY, Cheon SJ, Seo H, Lee BY, Nam JH, Lee DY
Knee Surg Sports Traumatol Arthrosc 2021 Dec;29(12):3910-3920. Epub 2020 Oct 22 doi: 10.1007/s00167-020-06328-3. PMID: 33090240
Joaquim AF, Lee NJ, Lehman RA Jr, Tumialán LM, Riew KD
Eur Spine J 2020 Nov;29(11):2723-2733. Epub 2020 Aug 31 doi: 10.1007/s00586-020-06578-2. PMID: 32865650
Sumner DR, Ross R, Purdue E
Clin Orthop Relat Res 2014 Dec;472(12):3728-39. doi: 10.1007/s11999-014-3580-3. PMID: 24668073Free PMC Article
Kurtz SM, Gawel HA, Patel JD
Clin Orthop Relat Res 2011 Aug;469(8):2262-77. doi: 10.1007/s11999-011-1872-4. PMID: 21431461Free PMC Article

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