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Ectopic calcification

MedGen UID:
812556
Concept ID:
C3806226
Finding
HPO: HP:0010766

Definition

Deposition of calcium salts in a tissue or location in which calcification does not normally occur. [from HPO]

Conditions with this feature

Greenberg dysplasia
MedGen UID:
418969
Concept ID:
C2931048
Disease or Syndrome
Greenberg dysplasia (GRBGD), also known as hydrops-ectopic calcification-moth-eaten (HEM) skeletal dysplasia, is a rare autosomal recessive osteochondrodysplasia characterized by gross fetal hydrops, severe shortening of all long bones with a moth-eaten radiographic appearance, platyspondyly, disorganization of chondroosseous calcification, and ectopic ossification centers. It is lethal in utero. Patient fibroblasts show increased levels of cholesta-8,14-dien-3-beta-ol, suggesting a defect of sterol metabolism (summary by Konstantinidou et al., 2008). Herman (2003) reviewed the cholesterol biosynthetic pathway and 6 disorders involving enzyme defects in postsqualene cholesterol biosynthesis: Smith-Lemli-Opitz syndrome (SLOS; 270400), desmosterolosis (602398), X-linked dominant chondrodysplasia punctata (CDPX2; 302960), CHILD syndrome (308050), lathosterolosis (607330), and HEM skeletal dysplasia.
Hypopigmentation-punctate palmoplantar keratoderma syndrome
MedGen UID:
816111
Concept ID:
C3809781
Disease or Syndrome
Cole disease (COLED) is a rare autosomal dominant disorder characterized by congenital or early-onset punctate keratoderma associated with irregularly shaped hypopigmented macules, which are typically found over the arms and legs but not the trunk or acral regions. Skin biopsies of palmoplantar lesions show nonspecific changes including hyperorthokeratosis, hypergranulosis, and acanthosis. Hypopigmented areas of skin, however, reveal a reduction in melanin content in keratinocytes but not in melanocytes, as well as hyperkeratosis and a normal number of melanocytes. Ultrastructurally, melanocytes show a disproportionately large number of melanosomes in the cytoplasm and dendrites, whereas keratinocytes show a paucity of these organelles, suggestive of impaired melanosome transfer (summary by Eytan et al., 2013). Some patients also exhibit calcinosis cutis or early-onset calcific tendinopathy (Eytan et al., 2013).

Professional guidelines

PubMed

Haarhaus M, Cianciolo G, Barbuto S, La Manna G, Gasperoni L, Tripepi G, Plebani M, Fusaro M, Magnusson P
Nutrients 2022 May 19;14(10) doi: 10.3390/nu14102124. PMID: 35631265Free PMC Article
Kakani E, Elyamny M, Ayach T, El-Husseini A
Semin Dial 2019 Nov;32(6):553-561. Epub 2019 Aug 29 doi: 10.1111/sdi.12840. PMID: 31464003
Nitschke Y, Rutsch F
Curr Osteoporos Rep 2017 Aug;15(4):255-270. doi: 10.1007/s11914-017-0370-3. PMID: 28585220

Recent clinical studies

Etiology

Hutcheson JD, Goettsch C
Circ Res 2023 Apr 14;132(8):993-1012. Epub 2023 Apr 13 doi: 10.1161/CIRCRESAHA.123.321760. PMID: 37053279Free PMC Article
Haarhaus M, Cianciolo G, Barbuto S, La Manna G, Gasperoni L, Tripepi G, Plebani M, Fusaro M, Magnusson P
Nutrients 2022 May 19;14(10) doi: 10.3390/nu14102124. PMID: 35631265Free PMC Article
Tintut Y, Honda HM, Demer LL
Biomolecules 2021 Oct 7;11(10) doi: 10.3390/biom11101482. PMID: 34680115Free PMC Article
Kakani E, Elyamny M, Ayach T, El-Husseini A
Semin Dial 2019 Nov;32(6):553-561. Epub 2019 Aug 29 doi: 10.1111/sdi.12840. PMID: 31464003
Roberts S, Evans H, Trivedi J, Menage J
J Bone Joint Surg Am 2006 Apr;88 Suppl 2:10-4. doi: 10.2106/JBJS.F.00019. PMID: 16595436

Diagnosis

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
Kozák E, Fülöp K, Tőkési N, Rao N, Li Q, Terry SF, Uitto J, Zhang X, Becker C, Váradi A, Pomozi V
Exp Dermatol 2022 Apr;31(4):548-555. Epub 2021 Nov 17 doi: 10.1111/exd.14498. PMID: 34758173Free PMC Article
Ferreira CR, Kintzinger K, Hackbarth ME, Botschen U, Nitschke Y, Mughal MZ, Baujat G, Schnabel D, Yuen E, Gahl WA, Gafni RI, Liu Q, Huertas P, Khursigara G, Rutsch F
J Bone Miner Res 2021 Nov;36(11):2193-2202. Epub 2021 Aug 16 doi: 10.1002/jbmr.4418. PMID: 34355424Free PMC Article
Kakani E, Elyamny M, Ayach T, El-Husseini A
Semin Dial 2019 Nov;32(6):553-561. Epub 2019 Aug 29 doi: 10.1111/sdi.12840. PMID: 31464003
Rogers MA, Aikawa E
Nat Rev Cardiol 2019 May;16(5):261-274. doi: 10.1038/s41569-018-0123-8. PMID: 30531869

Therapy

Yang X, Liu Y, Zhu X, Chen P, Xie X, Xu T, Zhang X, Zhao Y
Ren Fail 2023 Dec;45(1):2228920. doi: 10.1080/0886022X.2023.2228920. PMID: 37369635Free PMC Article
De Maré A, Opdebeeck B, Neven E, D'Haese PC, Verhulst A
J Bone Miner Res 2022 Apr;37(4):687-699. Epub 2022 Feb 15 doi: 10.1002/jbmr.4503. PMID: 35038187Free PMC Article
Kozák E, Fülöp K, Tőkési N, Rao N, Li Q, Terry SF, Uitto J, Zhang X, Becker C, Váradi A, Pomozi V
Exp Dermatol 2022 Apr;31(4):548-555. Epub 2021 Nov 17 doi: 10.1111/exd.14498. PMID: 34758173Free PMC Article
Kakani E, Elyamny M, Ayach T, El-Husseini A
Semin Dial 2019 Nov;32(6):553-561. Epub 2019 Aug 29 doi: 10.1111/sdi.12840. PMID: 31464003
Avogaro A, Rattazzi M, Fadini GP
Expert Opin Ther Targets 2014 May;18(5):595-609. Epub 2014 Mar 5 doi: 10.1517/14728222.2014.894021. PMID: 24593833

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
Ferreira CR, Kintzinger K, Hackbarth ME, Botschen U, Nitschke Y, Mughal MZ, Baujat G, Schnabel D, Yuen E, Gahl WA, Gafni RI, Liu Q, Huertas P, Khursigara G, Rutsch F
J Bone Miner Res 2021 Nov;36(11):2193-2202. Epub 2021 Aug 16 doi: 10.1002/jbmr.4418. PMID: 34355424Free PMC Article
Kakani E, Elyamny M, Ayach T, El-Husseini A
Semin Dial 2019 Nov;32(6):553-561. Epub 2019 Aug 29 doi: 10.1111/sdi.12840. PMID: 31464003
Hutcheson JD, Goettsch C, Rogers MA, Aikawa E
Semin Cell Dev Biol 2015 Oct;46:68-77. Epub 2015 Sep 7 doi: 10.1016/j.semcdb.2015.09.004. PMID: 26358815
Roberts S, Evans H, Trivedi J, Menage J
J Bone Joint Surg Am 2006 Apr;88 Suppl 2:10-4. doi: 10.2106/JBJS.F.00019. PMID: 16595436

Clinical prediction guides

Hutcheson JD, Goettsch C
Circ Res 2023 Apr 14;132(8):993-1012. Epub 2023 Apr 13 doi: 10.1161/CIRCRESAHA.123.321760. PMID: 37053279Free PMC Article
Cheng Z, O'Brien K, Howe J, Sullivan C, Schrier D, Lynch A, Jungles S, Sabbagh Y, Thompson D
J Bone Miner Res 2021 Aug;36(8):1594-1604. Epub 2021 May 5 doi: 10.1002/jbmr.4315. PMID: 33900645
Wu CY, Martel J, Young JD
Sci Rep 2020 May 22;10(1):8545. doi: 10.1038/s41598-020-65276-7. PMID: 32444654Free PMC Article
Avogaro A, Rattazzi M, Fadini GP
Expert Opin Ther Targets 2014 May;18(5):595-609. Epub 2014 Mar 5 doi: 10.1517/14728222.2014.894021. PMID: 24593833
Collett GD, Canfield AE
Circ Res 2005 May 13;96(9):930-8. doi: 10.1161/01.RES.0000163634.51301.0d. PMID: 15890980

Recent systematic reviews

Tarantino U, Greggi C, Cariati I, Visconti VV, Gasparini M, Cateni M, Gasbarra E, Botta A, Salustri A, Scimeca M
Front Immunol 2020;11:622772. Epub 2021 Jan 29 doi: 10.3389/fimmu.2020.622772. PMID: 33584725Free PMC Article
Brown RB
Curr Diabetes Rev 2020;16(7):674-689. doi: 10.2174/1573399815666191104113236. PMID: 31686640
Ramakrishnan Y, Cocks HC
Eur Arch Otorhinolaryngol 2016 Apr;273(4):827-35. Epub 2015 Jan 8 doi: 10.1007/s00405-014-3484-6. PMID: 25567344

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