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Hyperostosis

MedGen UID:
9366
Concept ID:
C0020492
Disease or Syndrome
Synonyms: Bone Hypertrophies; Bone Hypertrophy; Hyperostoses; Hypertrophies, Bone; Hypertrophy, Bone
SNOMED CT: Hypertrophy of bone (203514008)
 
HPO: HP:0100774
Monarch Initiative: MONDO:0002185

Definition

Excessive growth or abnormal thickening of bone tissue. [from HPO]

Conditions with this feature

Worth disease
MedGen UID:
140932
Concept ID:
C0432273
Disease or Syndrome
Autosomal dominant endosteal hyperostosis is a generalized bone dysplasia characterized by a cortical thickening of the long bones, with no alteration in external shape, and a remarkable resistance of the bone to fracture. The skeleton is normal in childhood. Facial metamorphoses occur in adolescence, as the forehead flattens, the mandible becomes elongated, and the gonial angle decreases. An enlarging osseous prominence (torus palatinus) develops in the hard palate, which may lead to malocclusion or loss of teeth (summary by Van Wesenbeeck et al., 2003).
Camurati-Engelmann disease, type 2
MedGen UID:
419470
Concept ID:
C2931683
Disease or Syndrome
Camurati-Engelmann Disease not associated with TGFB1. This is an n-of-1 use case where only one patient or family has been described with this disorder.
Melorheostosis
MedGen UID:
460981
Concept ID:
C3149631
Disease or Syndrome
Melorheostosis (MEL) is characterized by 'flowing' hyperostosis of the cortex of tubular bones. The lesions are usually asymmetric and involve only 1 limb or correspond to a particular sclerotome. They may be accompanied by abnormalities of adjacent soft tissue, including joint contractures, sclerodermatous skin lesions, muscle atrophy, or hemangiomas (review by Hellemans et al., 2004). The designation combines root words meaning 'limb,' 'flow,' and 'bone.' Melorheostosis may sometimes be a feature of Buschke-Ollendorff syndrome (BOS; 166700), a benign disorder which is caused by mutation in the LEMD3 gene (607844). Although germline or somatic LEMD3 mutations had been postulated to cause isolated melorheostosis (Butkus et al., 1997; Debeer et al., 2003; Happle, 2004; Hellemans et al., 2004), several studies have not been able to prove this (Hellemans et al., 2004; Mumm et al., 2007; Zhang et al., 2009).
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2
MedGen UID:
482430
Concept ID:
C3280800
Disease or Syndrome
PHOAR2-enteropathy syndrome (PHOAR2E) is characterized by primary hypertrophic osteoarthropathy (PHO) and/or chronic nonspecific ulcers (CNSU) of the small intestine. The cardinal features of PHO are digital clubbing, pachydermia, and periostosis; other manifestations include swelling and pain of the large joints, hyperhidrosis, seborrhea, and acne. CNSU often presents with chronic unexplained anemia and abdominal pain, and patients may exhibit edema due to hypoalbuminemia. Radiologic imaging or endoscopy shows multiple small ulcers, predominantly in the ileum, although the stomach, duodenum, and jejunum are often involved. PHO is more frequent and more severe in male patients, who often also report watery diarrhea, whereas CNSU is more often diagnosed in female patients, who may also show features of PHO such as digital clubbing or arthralgias and swelling of the joints. The same mutations in the SLCO2A1 gene have been reported in patients presenting with either diagnosis, and presumed sex-related modifiers of the manifestations of disease or other genotype/phenotype correlates have yet to be elucidated (Li et al., 2017; Umeno et al., 2018; Hong et al., 2022; Kimball et al., 2024). For a discussion of genetic heterogeneity of PHO, see PHOAR1 (259100).
Tumoral calcinosis, hyperphosphatemic, familial, 1
MedGen UID:
1642611
Concept ID:
C4692564
Disease or Syndrome
Hyperphosphatemic familial tumoral calcinosis (HFTC) is characterized by: Ectopic calcifications (tumoral calcinosis) typically found in periarticular soft tissues exposed to repetitive trauma or prolonged pressure (e.g., hips, elbows, and shoulders); and Painful swellings (referred to as hyperostosis) in the areas overlying the diaphyses of the tibiae (and less often the ulna, metacarpal bones, and radius). The dental phenotype unique to HFTC includes enamel hypoplasia, short and bulbous roots, obliteration of pulp chambers and canals, and pulp stones. Less common are large and small vessel calcifications that are often asymptomatic incidental findings on radiologic studies but can also cause peripheral vascular insufficiency (e.g., pain, cold extremities, and decreased peripheral pulses). Less frequently reported findings include testicular microlithiasis and angioid streaks of the retina.

Professional guidelines

PubMed

Li SWS, Roberts E, Hedrich C
RMD Open 2023 Dec 26;9(4) doi: 10.1136/rmdopen-2023-003688. PMID: 38151265Free PMC Article
Le HV, Wick JB, Van BW, Klineberg EO
J Am Acad Orthop Surg 2021 Dec 15;29(24):1044-1051. doi: 10.5435/JAAOS-D-20-01344. PMID: 34559699
Braun J, Baraliakos X, Buehring B, Kiltz U, Fruth M
Clin Exp Rheumatol 2018 Sep-Oct;36 Suppl 114(5):35-42. Epub 2018 Oct 1 PMID: 30296971

Recent clinical studies

Etiology

Li SWS, Roberts E, Hedrich C
RMD Open 2023 Dec 26;9(4) doi: 10.1136/rmdopen-2023-003688. PMID: 38151265Free PMC Article
Kishimoto M, Taniguchi Y, Tsuji S, Ishihara Y, Deshpande GA, Maeda K, Okada M, Komagata Y, Kobayashi S, Okubo Y, Tomita T, Kaname S
Mod Rheumatol 2022 Jul 1;32(4):665-674. doi: 10.1093/mr/roab103. PMID: 34967407
Kuperus JS, Mohamed Hoesein FAA, de Jong PA, Verlaan JJ
Best Pract Res Clin Rheumatol 2020 Jun;34(3):101527. Epub 2020 May 23 doi: 10.1016/j.berh.2020.101527. PMID: 32456997
Jurik AG, Klicman RF, Simoni P, Robinson P, Teh J
Semin Musculoskelet Radiol 2018 Apr;22(2):207-224. Epub 2018 Apr 19 doi: 10.1055/s-0038-1639469. PMID: 29672809
Greenwood S, Leone A, Cassar-Pullicino VN
Radiol Clin North Am 2017 Sep;55(5):1035-1053. doi: 10.1016/j.rcl.2017.04.009. PMID: 28774447

Diagnosis

Le HV, Wick JB, Van BW, Klineberg EO
J Am Acad Orthop Surg 2021 Dec 15;29(24):1044-1051. doi: 10.5435/JAAOS-D-20-01344. PMID: 34559699
Kuperus JS, Mohamed Hoesein FAA, de Jong PA, Verlaan JJ
Best Pract Res Clin Rheumatol 2020 Jun;34(3):101527. Epub 2020 May 23 doi: 10.1016/j.berh.2020.101527. PMID: 32456997
Hirosawa T, Kawamoto S, Shimizu T
BMJ Case Rep 2019 Dec 2;12(12) doi: 10.1136/bcr-2019-233221. PMID: 31796447Free PMC Article
Brickley MB
Am J Phys Anthropol 2018 Dec;167(4):896-902. Epub 2018 Sep 27 doi: 10.1002/ajpa.23701. PMID: 30259969
Yachoui R, Kreidy M, Parker BJ
Clin Med Res 2017 Jun;15(1-2):37-40. doi: 10.3121/cmr.2017.1352. PMID: 28751466Free PMC Article

Therapy

Li SWS, Roberts E, Hedrich C
RMD Open 2023 Dec 26;9(4) doi: 10.1136/rmdopen-2023-003688. PMID: 38151265Free PMC Article
Dall'oglio F, Puglisi DF, Nasca MR, Micali G
G Ital Dermatol Venereol 2020 Dec;155(6):711-718. Epub 2020 Oct 21 doi: 10.23736/S0392-0488.20.06711-5. PMID: 33084268
Hirosawa T, Kawamoto S, Shimizu T
BMJ Case Rep 2019 Dec 2;12(12) doi: 10.1136/bcr-2019-233221. PMID: 31796447Free PMC Article
Yachoui R, Kreidy M, Parker BJ
Clin Med Res 2017 Jun;15(1-2):37-40. doi: 10.3121/cmr.2017.1352. PMID: 28751466Free PMC Article
Nguyen MT, Borchers A, Selmi C, Naguwa SM, Cheema G, Gershwin ME
Semin Arthritis Rheum 2012 Dec;42(3):254-65. doi: 10.1016/j.semarthrit.2012.05.006. PMID: 23153960

Prognosis

Kato H, Braddock DT, Ito N
Curr Osteoporos Rep 2023 Oct;21(5):552-566. Epub 2023 Aug 2 doi: 10.1007/s11914-023-00814-6. PMID: 37530996Free PMC Article
Braun J, Baraliakos X, Buehring B, Kiltz U, Fruth M
Clin Exp Rheumatol 2018 Sep-Oct;36 Suppl 114(5):35-42. Epub 2018 Oct 1 PMID: 30296971
Berthelot JM, Corvec S, Hayem G
Joint Bone Spine 2018 Mar;85(2):171-176. Epub 2017 May 9 doi: 10.1016/j.jbspin.2017.04.010. PMID: 28499891
Greenwood S, Leone A, Cassar-Pullicino VN
Radiol Clin North Am 2017 Sep;55(5):1035-1053. doi: 10.1016/j.rcl.2017.04.009. PMID: 28774447
Elkhamary SM, Galindo-Ferreiro A, Akaishi P, Muiños-Diaz Y, Cechetti SP, Cintra MB, Cruz AAV
Ophthalmic Plast Reconstr Surg 2017 Jul/Aug;33(4):241-243. doi: 10.1097/IOP.0000000000000719. PMID: 27254545

Clinical prediction guides

Li SWS, Roberts E, Hedrich C
RMD Open 2023 Dec 26;9(4) doi: 10.1136/rmdopen-2023-003688. PMID: 38151265Free PMC Article
Pamir MN, Özduman K
Handb Clin Neurol 2020;170:25-35. doi: 10.1016/B978-0-12-822198-3.00025-2. PMID: 32586497
Braun J, Baraliakos X, Buehring B, Kiltz U, Fruth M
Clin Exp Rheumatol 2018 Sep-Oct;36 Suppl 114(5):35-42. Epub 2018 Oct 1 PMID: 30296971
Bhandarkar ND, Sautter NB, Kennedy DW, Smith TL
Int Forum Allergy Rhinol 2013 May;3(5):355-63. Epub 2012 Dec 19 doi: 10.1002/alr.21118. PMID: 23258589
Conner CS
Drug Intell Clin Pharm 1984 Apr;18(4):308-9. doi: 10.1177/106002808401800406. PMID: 6232121

Recent systematic reviews

Li SWS, Roberts E, Hedrich C
RMD Open 2023 Dec 26;9(4) doi: 10.1136/rmdopen-2023-003688. PMID: 38151265Free PMC Article
Schigt H, Bald M, van der Eerden BCJ, Gal L, Ilenwabor BP, Konrad M, Levine MA, Li D, Mache CJ, Mackin S, Perry C, Rios FJ, Schlingmann KP, Storey B, Trapp CM, Verkerk AJMH, Zillikens MC, Touyz RM, Hoorn EJ, Hoenderop JGJ, de Baaij JHF
J Clin Endocrinol Metab 2023 Aug 18;108(9):e754-e768. doi: 10.1210/clinem/dgad147. PMID: 36916904Free PMC Article
Harlianto NI, Kuperus JS, Mohamed Hoesein FAA, de Jong PA, de Ru JA, Öner FC, Verlaan JJ
Spine J 2022 Sep;22(9):1490-1503. Epub 2022 Mar 11 doi: 10.1016/j.spinee.2022.03.002. PMID: 35283294
Munhoz L, Arita ES, Nishimura DA, Watanabe PCA
Oral Radiol 2021 Jan;37(1):2-12. Epub 2019 Nov 16 doi: 10.1007/s11282-019-00416-y. PMID: 31734933
Bhandarkar ND, Sautter NB, Kennedy DW, Smith TL
Int Forum Allergy Rhinol 2013 May;3(5):355-63. Epub 2012 Dec 19 doi: 10.1002/alr.21118. PMID: 23258589

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