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Metacarpal osteolysis

MedGen UID:
343165
Concept ID:
C1854610
Finding
Synonym: Metacarpals osteolysis
 
HPO: HP:0001504

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMetacarpal osteolysis

Conditions with this feature

Multicentric osteolysis nodulosis arthropathy spectrum
MedGen UID:
342428
Concept ID:
C1850155
Disease or Syndrome
Multicentric osteolysis nodulosis and arthropathy (MONA) is a skeletal dysplasia characterized by progressive osteolysis (particularly of the carpal and tarsal bones), osteoporosis, subcutaneous nodules on the palms and soles, and progressive arthropathy (joint contractures, pain, swelling, and stiffness). Other manifestations include coarse facies, pigmented skin lesions, cardiac defects, and corneal opacities. Onset is usually between ages six months and six years (range: birth to 11 years).
Multicentric carpo-tarsal osteolysis with or without nephropathy
MedGen UID:
436237
Concept ID:
C2674705
Disease or Syndrome
Multicentric carpotarsal osteolysis syndrome is a rare skeletal disorder, usually presenting in early childhood with a clinical picture mimicking juvenile rheumatoid arthritis. Progressive destruction of the carpal and tarsal bone usually occurs and other bones may also be involved. Chronic renal failure is a frequent component of the syndrome. Mental retardation and minor facial anomalies have been noted in some patients. Autosomal dominant inheritance has been documented in many families (Pai and Macpherson, 1988). See also Torg-Winchester syndrome (259600), an autosomal recessive multicentric osteolysis syndrome.

Recent clinical studies

Etiology

Completo A, Semitela A, Fonseca F, Nascimento A
Clin Biomech (Bristol, Avon) 2023 Dec;110:106120. Epub 2023 Oct 10 doi: 10.1016/j.clinbiomech.2023.106120. PMID: 37837943
Dietrich AKIM, Winkelmann M, O'Loughlin PF, Krettek C, Gaulke R
Hand Surg Rehabil 2022 Feb;41(1):65-72. Epub 2021 Oct 18 doi: 10.1016/j.hansur.2021.09.010. PMID: 34673276
Kennedy AM, Barker J, Estfan R, Packer GJ
Hand Surg Rehabil 2020 Feb;39(1):53-58. Epub 2019 Nov 7 doi: 10.1016/j.hansur.2019.11.001. PMID: 31707057
Ferreres A, Lluch A, Del Valle M
J Hand Surg Am 2011 Jun;36(6):967-73. doi: 10.1016/j.jhsa.2011.03.034. PMID: 21636020
Wong WL, Pemberton J
Br J Radiol 1992 Jun;65(774):480-4. doi: 10.1259/0007-1285-65-774-480. PMID: 1628178

Diagnosis

Dietrich AKIM, Winkelmann M, O'Loughlin PF, Krettek C, Gaulke R
Hand Surg Rehabil 2022 Feb;41(1):65-72. Epub 2021 Oct 18 doi: 10.1016/j.hansur.2021.09.010. PMID: 34673276
Lee JK, Kwon YW, Shim JC, Kang YK, Cho WM, Park JW, Han SH
Medicine (Baltimore) 2021 Jul 16;100(28):e26445. doi: 10.1097/MD.0000000000026445. PMID: 34260526Free PMC Article
Bonafé L, Kariminejad A, Li J, Royer-Bertrand B, Garcia V, Mahdavi S, Bozorgmehr B, Lachman RL, Mittaz-Crettol L, Campos-Xavier B, Nampoothiri S, Unger S, Rivolta C, Levade T, Superti-Furga A
Arthritis Rheumatol 2016 Sep;68(9):2323-7. Epub 2016 Jul 29 doi: 10.1002/art.39659. PMID: 26945816
Goldfarb CA, Steffen JA, Whyte MP
J Hand Surg Am 2012 Aug;37(8):1677-83. Epub 2012 Jul 2 doi: 10.1016/j.jhsa.2012.05.001. PMID: 22763050
Singh JA, Williams CB, McAlister WH
Am J Med Genet A 2003 Aug 30;121A(2):118-25. doi: 10.1002/ajmg.a.20181. PMID: 12910489

Therapy

Julian HS, Kandemir G, Redfern J, J Joyce T, Brown DJ
J Hand Surg Eur Vol 2024 Jan;49(1):34-39. Epub 2023 Sep 4 doi: 10.1177/17531934231194287. PMID: 37666215
Tiihonen R, Honkanen PB, Belt EA, Ikävalko M, Skyttä ET
Scand J Surg 2012;101(4):265-70. doi: 10.1177/145749691210100408. PMID: 23238502
Connor A, Highton J, Hung NA, Dunbar J, MacGinley R, Walker R
Am J Kidney Dis 2007 Oct;50(4):649-54. doi: 10.1053/j.ajkd.2007.06.014. PMID: 17900466
Peimer CA, Medige J, Eckert BS, Wright JR, Howard CS
J Hand Surg Am 1986 Sep;11(5):624-38. doi: 10.1016/s0363-5023(86)80002-8. PMID: 3531304
Ettinger B, Genant HK, Cann CE
Ann Intern Med 1985 Mar;102(3):319-24. doi: 10.7326/0003-4819-102-3-319. PMID: 2982302

Prognosis

Completo A, Semitela A, Fonseca F, Nascimento A
Clin Biomech (Bristol, Avon) 2023 Dec;110:106120. Epub 2023 Oct 10 doi: 10.1016/j.clinbiomech.2023.106120. PMID: 37837943
Kennedy AM, Barker J, Estfan R, Packer GJ
Hand Surg Rehabil 2020 Feb;39(1):53-58. Epub 2019 Nov 7 doi: 10.1016/j.hansur.2019.11.001. PMID: 31707057
Goldfarb CA, Steffen JA, Whyte MP
J Hand Surg Am 2012 Aug;37(8):1677-83. Epub 2012 Jul 2 doi: 10.1016/j.jhsa.2012.05.001. PMID: 22763050
Ferreres A, Lluch A, Del Valle M
J Hand Surg Am 2011 Jun;36(6):967-73. doi: 10.1016/j.jhsa.2011.03.034. PMID: 21636020
Dumont C, Fuchs M, Burchhardt H, Appelt D, Bohr S, Stürmer KM
J Hand Surg Am 2007 Apr;32(4):491-6. doi: 10.1016/j.jhsa.2007.02.005. PMID: 17398359

Clinical prediction guides

Completo A, Semitela A, Fonseca F, Nascimento A
Clin Biomech (Bristol, Avon) 2023 Dec;110:106120. Epub 2023 Oct 10 doi: 10.1016/j.clinbiomech.2023.106120. PMID: 37837943
Dietrich AKIM, Winkelmann M, O'Loughlin PF, Krettek C, Gaulke R
Hand Surg Rehabil 2022 Feb;41(1):65-72. Epub 2021 Oct 18 doi: 10.1016/j.hansur.2021.09.010. PMID: 34673276
Bonafé L, Kariminejad A, Li J, Royer-Bertrand B, Garcia V, Mahdavi S, Bozorgmehr B, Lachman RL, Mittaz-Crettol L, Campos-Xavier B, Nampoothiri S, Unger S, Rivolta C, Levade T, Superti-Furga A
Arthritis Rheumatol 2016 Sep;68(9):2323-7. Epub 2016 Jul 29 doi: 10.1002/art.39659. PMID: 26945816
Henriques JC, Castilho JC, Jacobs R, Amorim JB, Rosa RR, Matai CV
Clin Oral Investig 2013 Jul;17(6):1611-7. Epub 2012 Sep 16 doi: 10.1007/s00784-012-0842-x. PMID: 22983499
Dumont C, Fuchs M, Burchhardt H, Appelt D, Bohr S, Stürmer KM
J Hand Surg Am 2007 Apr;32(4):491-6. doi: 10.1016/j.jhsa.2007.02.005. PMID: 17398359

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