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Calcinosis

MedGen UID:
709
Concept ID:
C0006663
Finding; Pathologic Function
Synonyms: Calcification, Pathologic; Calcinoses; Pathologic Calcification
SNOMED CT: Calcinosis (6595006); Extraskeletal calcification (6595006)
 
HPO: HP:0003761
Monarch Initiative: MONDO:0002123

Definition

Formation of calcium deposits in any soft tissue. [from HPO]

Conditions with this feature

Reynolds syndrome
MedGen UID:
450547
Concept ID:
C0748397
Disease or Syndrome
An autoimmune disorder characterized by the association of primary biliary cirrhosis with limited cutaneous systemic sclerosis. Onset occurs between 30-65 years. Occurs sporadically, but rare familial cases with an unknown inheritance pattern have been observed. There is no cure and management is mainly supportive.
Neonatal severe primary hyperparathyroidism
MedGen UID:
331326
Concept ID:
C1832615
Disease or Syndrome
Neonatal severe hyperparathyroidism usually manifests in the first 6 months of life with severe hypercalcemia, bone demineralization, and failure to thrive. Early diagnosis is critical because untreated NSHPT can be a devastating neurodevelopmental disorder, which in some cases is lethal without parathyroidectomy. Some infants have milder hyperparathyroidism and a substantially milder clinical presentation and natural history (summary by Egbuna and Brown, 2008).
Arthrogryposis multiplex congenita-whistling face syndrome
MedGen UID:
349231
Concept ID:
C1859711
Disease or Syndrome
An extremely rare type of arthrogryposis multiplex congenita with the combination of multiple joint contractures with movement limitation and microstomia with a whistling appearance of the mouth that may cause feeding, swallowing and speech difficulties, a distinctive expressionless facies, severe developmental delay, central and autonomous nervous system dysfunction, occasionally Pierre-Robin sequence and lethality generally occurring during the first months of life.
Scleroderma, familial progressive
MedGen UID:
356661
Concept ID:
C1866983
Disease or Syndrome
Systemic sclerosis is a clinically heterogeneous connective tissue disorder characterized by immune activation, vascular damage, and fibrosis of the skin and major internal organs. Clinical and experimental data suggest that the disorder is multifactorial, involving both genetic and environmental factors (Fonseca et al., 2007). Gabrielli et al. (2009) provided a detailed review of scleroderma, including clinical manifestations and pathophysiology. See also Reynolds syndrome (613471), which shares some clinical features with scleroderma and CREST syndrome.
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.
Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
MedGen UID:
1634867
Concept ID:
C4693567
Disease or Syndrome
Mandibuloacral dysplasia with type A lipodystrophy
MedGen UID:
1757618
Concept ID:
C5399785
Disease or Syndrome
Mandibuloacral dysplasia with type A lipodystrophy (MADA) is an autosomal recessive disorder characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk. Some patients may show progeroid features. Metabolic complications can arise due to insulin resistance and diabetes (Young et al., 1971; Simha and Garg, 2002; summary by Garavelli et al., 2009). See also MAD type B (MADB; 608612), which is caused by mutation in the ZMPSTE24 gene (606480).

Professional guidelines

PubMed

Elahmar H, Feldman BM, Johnson SR
J Rheumatol 2022 Sep;49(9):980-989. Epub 2022 May 15 doi: 10.3899/jrheum.211393. PMID: 35569832
Leung AKC, Lam JM, Alobaida S, Leong KF, Wong AHC
Curr Pediatr Rev 2021;17(4):273-287. doi: 10.2174/1573396317666210426105045. PMID: 33902423
Traineau H, Aggarwal R, Monfort JB, Senet P, Oddis CV, Chizzolini C, Barbaud A, Francès C, Arnaud L, Chasset F
J Am Acad Dermatol 2020 Feb;82(2):317-325. Epub 2019 Jul 11 doi: 10.1016/j.jaad.2019.07.006. PMID: 31302187

Recent clinical studies

Etiology

Davuluri S, Lood C, Chung L
Curr Opin Rheumatol 2022 Nov 1;34(6):319-327. Epub 2022 Aug 19 doi: 10.1097/BOR.0000000000000896. PMID: 35993867Free PMC Article
Yan YY, Dous YNB, Ouellette HA, Munk PL, Murray N, Mallinson PI, Sheikh MA
Skeletal Radiol 2022 Mar;51(3):451-475. Epub 2021 Jun 21 doi: 10.1007/s00256-021-03842-4. PMID: 34155550
Saade C, Najem E, Asmar K, Salman R, El Achkar B, Naffaa L
J Radiol Case Rep 2019 Aug;13(8):1-18. Epub 2019 Aug 31 doi: 10.3941/jrcr.v13i8.3633. PMID: 31558966Free PMC Article
Nakanishi T, Kuragano T
Blood Purif 2019;47 Suppl 2:1-2. Epub 2019 Apr 3 doi: 10.1159/000497532. PMID: 30943485
Rennenberg RJ, Schurgers LJ, Kroon AA, Stehouwer CD
J Cell Mol Med 2010 Sep;14(9):2203-10. doi: 10.1111/j.1582-4934.2010.01139.x. PMID: 20716128Free PMC Article

Diagnosis

Hughes M, Herrick AL
Expert Rev Clin Immunol 2023 Jan;19(1):45-54. Epub 2022 Nov 23 doi: 10.1080/1744666X.2023.2144835. PMID: 36333952
Davuluri S, Lood C, Chung L
Curr Opin Rheumatol 2022 Nov 1;34(6):319-327. Epub 2022 Aug 19 doi: 10.1097/BOR.0000000000000896. PMID: 35993867Free PMC Article
Chung MP, Richardson C, Kirakossian D, Orandi AB, Saketkoo LA, Rider LG, Schiffenbauer A, von Mühlen CA, Chung L; International Myositis Assessment; Clinical Studies Group (IMACS) Calcinosis Scientific Interest Group
Autoimmun Rev 2020 Jun;19(6):102533. Epub 2020 Mar 28 doi: 10.1016/j.autrev.2020.102533. PMID: 32234404Free PMC Article
Valenzuela A, Song P, Chung L
Curr Opin Rheumatol 2018 Nov;30(6):554-561. doi: 10.1097/BOR.0000000000000539. PMID: 30124603
Valenzuela A, Chung L
Curr Opin Rheumatol 2015 Nov;27(6):542-8. doi: 10.1097/BOR.0000000000000220. PMID: 26352733

Therapy

Gandiga PC, Ghetie D, Anderson E, Aggrawal R
Curr Rheumatol Rep 2023 Aug;25(8):152-168. Epub 2023 Jun 1 doi: 10.1007/s11926-023-01105-w. PMID: 37261663
Diederichsen ACP, Lindholt JS, Möller S, Øvrehus KA, Auscher S, Lambrechtsen J, Hosbond SE, Alan DH, Urbonaviciene G, Becker SW, Fredgart MH, Hasific S, Folkestad L, Gerke O, Rasmussen LM, Møller JE, Mickley H, Dahl JS
Circulation 2022 May 3;145(18):1387-1397. Epub 2022 Apr 25 doi: 10.1161/CIRCULATIONAHA.121.057008. PMID: 35465686Free PMC Article
Surace SJ, Deitch J, Johnston RV, Buchbinder R
Cochrane Database Syst Rev 2020 Mar 4;3(3):CD008962. doi: 10.1002/14651858.CD008962.pub2. PMID: 32128761Free PMC Article
Traineau H, Aggarwal R, Monfort JB, Senet P, Oddis CV, Chizzolini C, Barbaud A, Francès C, Arnaud L, Chasset F
J Am Acad Dermatol 2020 Feb;82(2):317-325. Epub 2019 Jul 11 doi: 10.1016/j.jaad.2019.07.006. PMID: 31302187
Ebenbichler GR, Erdogmus CB, Resch KL, Funovics MA, Kainberger F, Barisani G, Aringer M, Nicolakis P, Wiesinger GF, Baghestanian M, Preisinger E, Fialka-Moser V
N Engl J Med 1999 May 20;340(20):1533-8. doi: 10.1056/NEJM199905203402002. PMID: 10332014

Prognosis

Valenzuela A, Song P, Chung L
Curr Opin Rheumatol 2018 Nov;30(6):554-561. doi: 10.1097/BOR.0000000000000539. PMID: 30124603
Di Minno MND, Di Minno A, Ambrosino P, Songia P, Pepi M, Tremoli E, Poggio P
Int J Cardiol 2018 Jun 1;260:138-144. doi: 10.1016/j.ijcard.2018.01.054. PMID: 29622430
Malik R, Aneni EC, Roberson L, Ogunmoroti O, Ali SS, Shaharyar S, Younus A, Jamal O, Aziz MA, Martin SS, Blaha MJ, Feldman T, Agatston AS, Veledar E, Nasir K
Atherosclerosis 2014 Dec;237(2):734-8. Epub 2014 Oct 28 doi: 10.1016/j.atherosclerosis.2014.10.087. PMID: 25463113
Madhavan MV, Tarigopula M, Mintz GS, Maehara A, Stone GW, Généreux P
J Am Coll Cardiol 2014 May 6;63(17):1703-14. Epub 2014 Feb 12 doi: 10.1016/j.jacc.2014.01.017. PMID: 24530667
Aronow WS
J Am Geriatr Soc 1995 Mar;43(3):295-300. doi: 10.1111/j.1532-5415.1995.tb07342.x. PMID: 7884122

Clinical prediction guides

Farber SH, Walker CT, Zhou JJ, Godzik J, Gandhi SV, de Andrada Pereira B, Koffie RM, Xu DS, Sciubba DM, Shin JH, Steinmetz MP, Wang MY, Shaffrey CI, Kanter AS, Yen CP, Chou D, Blaskiewicz DJ, Phillips FM, Park P, Mummaneni PV, Fessler RD, Härtl R, Glassman SD, Koski T, Deviren V, Taylor WR, Kakarla UK, Turner JD, Uribe JS
Spine (Phila Pa 1976) 2024 Mar 1;49(5):341-348. Epub 2023 May 1 doi: 10.1097/BRS.0000000000004701. PMID: 37134139
Wortsman X, Claveria P, Valenzuela F, Molina MT, Wortsman J
J Ultrasound Med 2014 Jan;33(1):93-102. doi: 10.7863/ultra.33.1.93. PMID: 24371103
Alexopoulos N, Raggi P
Nat Rev Cardiol 2009 Nov;6(11):681-8. Epub 2009 Sep 29 doi: 10.1038/nrcardio.2009.165. PMID: 19786983
Gopal A, Budoff MJ
Am Heart Hosp J 2006 Winter;4(1):43-50. doi: 10.1111/j.1541-9215.2006.04682.x. PMID: 16470104
Agatston AS, Janowitz WR, Hildner FJ, Zusmer NR, Viamonte M Jr, Detrano R
J Am Coll Cardiol 1990 Mar 15;15(4):827-32. doi: 10.1016/0735-1097(90)90282-t. PMID: 2407762

Recent systematic reviews

Homssi M, Saha A, Delgado D, RoyChoudhury A, Thomas C, Lin M, Baradaran H, Kamel H, Gupta A
Stroke 2023 Oct;54(10):2621-2628. Epub 2023 Aug 28 doi: 10.1161/STROKEAHA.123.042807. PMID: 37638399Free PMC Article
Surace SJ, Deitch J, Johnston RV, Buchbinder R
Cochrane Database Syst Rev 2020 Mar 4;3(3):CD008962. doi: 10.1002/14651858.CD008962.pub2. PMID: 32128761Free PMC Article
Traineau H, Aggarwal R, Monfort JB, Senet P, Oddis CV, Chizzolini C, Barbaud A, Francès C, Arnaud L, Chasset F
J Am Acad Dermatol 2020 Feb;82(2):317-325. Epub 2019 Jul 11 doi: 10.1016/j.jaad.2019.07.006. PMID: 31302187
Speed C
Br J Sports Med 2014 Nov;48(21):1538-42. Epub 2013 Aug 5 doi: 10.1136/bjsports-2012-091961. PMID: 23918444
van der Worp H, van den Akker-Scheek I, van Schie H, Zwerver J
Knee Surg Sports Traumatol Arthrosc 2013 Jun;21(6):1451-8. Epub 2012 May 1 doi: 10.1007/s00167-012-2009-3. PMID: 22547246Free PMC Article

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