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Other metabolic disease with skin involvement

MedGen UID:
1842479
Concept ID:
C5681273
Disease or Syndrome
Orphanet: ORPHA79217

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVOther metabolic disease with skin involvement

Professional guidelines

PubMed

James E, Ellis C, Brassington R, Sathasivam S, Young CA
Cochrane Database Syst Rev 2022 May 20;5(5):CD006981. doi: 10.1002/14651858.CD006981.pub3. PMID: 35593746Free PMC Article
Beldner S, Rabinovich RV, Polatsch DB
J Am Acad Orthop Surg 2020 Aug 15;28(16):e686-e695. doi: 10.5435/JAAOS-D-19-00547. PMID: 32769717
Patel S, Srivastava S, Singh MR, Singh D
Biomed Pharmacother 2019 Apr;112:108615. Epub 2019 Feb 20 doi: 10.1016/j.biopha.2019.108615. PMID: 30784919

Recent clinical studies

Etiology

Mrowietz U, Lauffer F, Sondermann W, Gerdes S, Sewerin P
Dtsch Arztebl Int 2024 Jul 12;121(14):467-472. doi: 10.3238/arztebl.m2024.0064. PMID: 38657176Free PMC Article
Gonzalez-Uribe V, Vidaurri-de la Cruz H, Gomez-Nuñez A, Leyva-Calderon JA, Mojica-Gonzalez ZS
Asian Pac J Allergy Immunol 2023 Jun;41(2):97-105. doi: 10.12932/AP-231022-1484. PMID: 37392397
Ridker PM, Bhatt DL, Pradhan AD, Glynn RJ, MacFadyen JG, Nissen SE; PROMINENT, REDUCE-IT, and STRENGTH Investigators
Lancet 2023 Apr 15;401(10384):1293-1301. Epub 2023 Mar 6 doi: 10.1016/S0140-6736(23)00215-5. PMID: 36893777
Ferreli C, Gasparini G, Parodi A, Cozzani E, Rongioletti F, Atzori L
Clin Rev Allergy Immunol 2017 Dec;53(3):306-336. doi: 10.1007/s12016-017-8625-4. PMID: 28712039
Takeichi T, Akiyama M
J Dermatol 2016 Mar;43(3):242-51. doi: 10.1111/1346-8138.13243. PMID: 26945532

Diagnosis

Salazar CE, Patil MK, Aihie O, Cruz N, Nambudiri VE
Arch Dermatol Res 2024 May 25;316(6):248. doi: 10.1007/s00403-024-02969-3. PMID: 38795152
Ridker PM, Bhatt DL, Pradhan AD, Glynn RJ, MacFadyen JG, Nissen SE; PROMINENT, REDUCE-IT, and STRENGTH Investigators
Lancet 2023 Apr 15;401(10384):1293-1301. Epub 2023 Mar 6 doi: 10.1016/S0140-6736(23)00215-5. PMID: 36893777
Leung AKC, Lam JM, Barankin B, Leong KF, Hon KL
Curr Pediatr Rev 2022;19(1):68-82. doi: 10.2174/1573396318666220429085231. PMID: 36698243
Takeichi T, Akiyama M
J Dermatol 2016 Mar;43(3):242-51. doi: 10.1111/1346-8138.13243. PMID: 26945532
Vanier MT
Orphanet J Rare Dis 2010 Jun 3;5:16. doi: 10.1186/1750-1172-5-16. PMID: 20525256Free PMC Article

Therapy

Davuluri S, Chung L, Lood C
Curr Opin Rheumatol 2024 Nov 1;36(6):453-458. Epub 2024 Aug 9 doi: 10.1097/BOR.0000000000001036. PMID: 39120537Free PMC Article
Salazar CE, Patil MK, Aihie O, Cruz N, Nambudiri VE
Arch Dermatol Res 2024 May 25;316(6):248. doi: 10.1007/s00403-024-02969-3. PMID: 38795152
Ridker PM, Bhatt DL, Pradhan AD, Glynn RJ, MacFadyen JG, Nissen SE; PROMINENT, REDUCE-IT, and STRENGTH Investigators
Lancet 2023 Apr 15;401(10384):1293-1301. Epub 2023 Mar 6 doi: 10.1016/S0140-6736(23)00215-5. PMID: 36893777
Leung AKC, Lam JM, Barankin B, Leong KF, Hon KL
Curr Pediatr Rev 2022;19(1):68-82. doi: 10.2174/1573396318666220429085231. PMID: 36698243
Vanier MT
Orphanet J Rare Dis 2010 Jun 3;5:16. doi: 10.1186/1750-1172-5-16. PMID: 20525256Free PMC Article

Prognosis

Ridker PM, Bhatt DL, Pradhan AD, Glynn RJ, MacFadyen JG, Nissen SE; PROMINENT, REDUCE-IT, and STRENGTH Investigators
Lancet 2023 Apr 15;401(10384):1293-1301. Epub 2023 Mar 6 doi: 10.1016/S0140-6736(23)00215-5. PMID: 36893777
Jodar E, Campusano C, de Jongh RT, Holick MF
Eur J Nutr 2023 Jun;62(4):1579-1597. Epub 2023 Mar 2 doi: 10.1007/s00394-023-03103-1. PMID: 36862209Free PMC Article
Ferreli C, Gasparini G, Parodi A, Cozzani E, Rongioletti F, Atzori L
Clin Rev Allergy Immunol 2017 Dec;53(3):306-336. doi: 10.1007/s12016-017-8625-4. PMID: 28712039
Quartier P, Gherardi RK
Handb Clin Neurol 2013;113:1457-63. doi: 10.1016/B978-0-444-59565-2.00014-9. PMID: 23622367
Vanier MT
Orphanet J Rare Dis 2010 Jun 3;5:16. doi: 10.1186/1750-1172-5-16. PMID: 20525256Free PMC Article

Clinical prediction guides

Davuluri S, Chung L, Lood C
Curr Opin Rheumatol 2024 Nov 1;36(6):453-458. Epub 2024 Aug 9 doi: 10.1097/BOR.0000000000001036. PMID: 39120537Free PMC Article
Ridker PM, Bhatt DL, Pradhan AD, Glynn RJ, MacFadyen JG, Nissen SE; PROMINENT, REDUCE-IT, and STRENGTH Investigators
Lancet 2023 Apr 15;401(10384):1293-1301. Epub 2023 Mar 6 doi: 10.1016/S0140-6736(23)00215-5. PMID: 36893777
Leung AKC, Lam JM, Barankin B, Leong KF, Hon KL
Curr Pediatr Rev 2022;19(1):68-82. doi: 10.2174/1573396318666220429085231. PMID: 36698243
Hooper L, Abdelhamid A, Attreed NJ, Campbell WW, Channell AM, Chassagne P, Culp KR, Fletcher SJ, Fortes MB, Fuller N, Gaspar PM, Gilbert DJ, Heathcote AC, Kafri MW, Kajii F, Lindner G, Mack GW, Mentes JC, Merlani P, Needham RA, Olde Rikkert MG, Perren A, Powers J, Ranson SC, Ritz P, Rowat AM, Sjöstrand F, Smith AC, Stookey JJ, Stotts NA, Thomas DR, Vivanti A, Wakefield BJ, Waldréus N, Walsh NP, Ward S, Potter JF, Hunter P
Cochrane Database Syst Rev 2015 Apr 30;2015(4):CD009647. doi: 10.1002/14651858.CD009647.pub2. PMID: 25924806Free PMC Article
Vanier MT
Orphanet J Rare Dis 2010 Jun 3;5:16. doi: 10.1186/1750-1172-5-16. PMID: 20525256Free PMC Article

Recent systematic reviews

Gonçalves Júnior J, Shinjo SK
Curr Rheumatol Rep 2024 Feb;26(2):53-68. Epub 2023 Dec 7 doi: 10.1007/s11926-023-01126-5. PMID: 38060107
Wen W, Portales-Castillo I, Seethapathy R, Durant O, Mengesha B, Krinsky S, Kroshinsky D, Kalim S, Goverman J, Nazarian RM, Chitalia V, Malhotra R, Kramann R, Malhotra CK, Nigwekar SU
JAMA Netw Open 2023 Apr 3;6(4):e2310068. doi: 10.1001/jamanetworkopen.2023.10068. PMID: 37099293Free PMC Article
James E, Ellis C, Brassington R, Sathasivam S, Young CA
Cochrane Database Syst Rev 2022 May 20;5(5):CD006981. doi: 10.1002/14651858.CD006981.pub3. PMID: 35593746Free PMC Article
Moradzadeh M, Aghaei M, Mehrbakhsh Z, Arab-Bafrani Z, Abdollahi N
Clin Rheumatol 2021 Oct;40(10):3897-3918. Epub 2021 Apr 2 doi: 10.1007/s10067-021-05698-4. PMID: 33796953
Hooper L, Abdelhamid A, Attreed NJ, Campbell WW, Channell AM, Chassagne P, Culp KR, Fletcher SJ, Fortes MB, Fuller N, Gaspar PM, Gilbert DJ, Heathcote AC, Kafri MW, Kajii F, Lindner G, Mack GW, Mentes JC, Merlani P, Needham RA, Olde Rikkert MG, Perren A, Powers J, Ranson SC, Ritz P, Rowat AM, Sjöstrand F, Smith AC, Stookey JJ, Stotts NA, Thomas DR, Vivanti A, Wakefield BJ, Waldréus N, Walsh NP, Ward S, Potter JF, Hunter P
Cochrane Database Syst Rev 2015 Apr 30;2015(4):CD009647. doi: 10.1002/14651858.CD009647.pub2. PMID: 25924806Free PMC Article

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