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Diffuse cutaneous systemic sclerosis

MedGen UID:
965566
Concept ID:
CN282059
Disease or Syndrome
Synonym: DcSSc
Modes of inheritance:
Non-Mendelian inheritance
MedGen UID:
109109
Concept ID:
C0600599
Genetic Function
Source: Orphanet
A mode of inheritance that depends on genetic determinants in more than one gene.
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0016356
Orphanet: ORPHA220393

Definition

Diffuse cutaneous systemic sclerosis (dcSSc) is a subtype of Systemic Sclerosis (SSc; see this term) characterized by truncal and acral skin fibrosis with an early and significant incidence of diffuse involvement (interstitial lung disease, oliguric renal failure, diffuse gastrointestinal disease, and myocardial involvement). [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDiffuse cutaneous systemic sclerosis

Professional guidelines

PubMed

Solanki KK, Hor C, Chang WSJ, Frampton C, White DHN
Int J Rheum Dis 2017 Jun;20(6):767-773. Epub 2017 Mar 6 doi: 10.1111/1756-185X.13049. PMID: 28261995
Volkmann ER, Furst DE
Rheum Dis Clin North Am 2015 Aug;41(3):399-417. Epub 2015 May 20 doi: 10.1016/j.rdc.2015.04.004. PMID: 26210126
Frech TM, Shanmugam VK, Shah AA, Assassi S, Gordon JK, Hant FN, Hinchcliff ME, Steen V, Khanna D, Kayser C, Domsic RT
Clin Exp Rheumatol 2013 Mar-Apr;31(2 Suppl 76):166-71. Epub 2013 Jul 23 PMID: 23910619Free PMC Article

Recent clinical studies

Etiology

Khanna D, Huang S, Lin CJF, Spino C
Ann Rheum Dis 2021 May;80(5):641-650. Epub 2020 Nov 30 doi: 10.1136/annrheumdis-2020-219100. PMID: 33257497Free PMC Article
Khanna D, Lin CJF, Furst DE, Goldin J, Kim G, Kuwana M, Allanore Y, Matucci-Cerinic M, Distler O, Shima Y, van Laar JM, Spotswood H, Wagner B, Siegel J, Jahreis A, Denton CP; focuSSced investigators
Lancet Respir Med 2020 Oct;8(10):963-974. Epub 2020 Aug 28 doi: 10.1016/S2213-2600(20)30318-0. PMID: 32866440
Distler O, Highland KB, Gahlemann M, Azuma A, Fischer A, Mayes MD, Raghu G, Sauter W, Girard M, Alves M, Clerisme-Beaty E, Stowasser S, Tetzlaff K, Kuwana M, Maher TM; SENSCIS Trial Investigators
N Engl J Med 2019 Jun 27;380(26):2518-2528. Epub 2019 May 20 doi: 10.1056/NEJMoa1903076. PMID: 31112379
Sullivan KM, Goldmuntz EA, Keyes-Elstein L, McSweeney PA, Pinckney A, Welch B, Mayes MD, Nash RA, Crofford LJ, Eggleston B, Castina S, Griffith LM, Goldstein JS, Wallace D, Craciunescu O, Khanna D, Folz RJ, Goldin J, St Clair EW, Seibold JR, Phillips K, Mineishi S, Simms RW, Ballen K, Wener MH, Georges GE, Heimfeld S, Hosing C, Forman S, Kafaja S, Silver RM, Griffing L, Storek J, LeClercq S, Brasington R, Csuka ME, Bredeson C, Keever-Taylor C, Domsic RT, Kahaleh MB, Medsger T, Furst DE; SCOT Study Investigators
N Engl J Med 2018 Jan 4;378(1):35-47. doi: 10.1056/nejmoa1703327. PMID: 29298160Free 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

Diagnosis

Ngo K
Adv Exp Med Biol 2021;1303:173-182. doi: 10.1007/978-3-030-63046-1_10. PMID: 33788193
Khanna D, Lin CJF, Furst DE, Goldin J, Kim G, Kuwana M, Allanore Y, Matucci-Cerinic M, Distler O, Shima Y, van Laar JM, Spotswood H, Wagner B, Siegel J, Jahreis A, Denton CP; focuSSced investigators
Lancet Respir Med 2020 Oct;8(10):963-974. Epub 2020 Aug 28 doi: 10.1016/S2213-2600(20)30318-0. PMID: 32866440
Distler O, Highland KB, Gahlemann M, Azuma A, Fischer A, Mayes MD, Raghu G, Sauter W, Girard M, Alves M, Clerisme-Beaty E, Stowasser S, Tetzlaff K, Kuwana M, Maher TM; SENSCIS Trial Investigators
N Engl J Med 2019 Jun 27;380(26):2518-2528. Epub 2019 May 20 doi: 10.1056/NEJMoa1903076. PMID: 31112379
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
Solanki KK, Hor C, Chang WSJ, Frampton C, White DHN
Int J Rheum Dis 2017 Jun;20(6):767-773. Epub 2017 Mar 6 doi: 10.1111/1756-185X.13049. PMID: 28261995

Therapy

Clark KEN, Xu S, Attah M, Ong VH, Buckley CD, Denton CP
Ann Rheum Dis 2023 Dec;82(12):1568-1579. Epub 2023 Aug 14 doi: 10.1136/ard-2023-224184. PMID: 37580109Free PMC Article
Khanna D, Huang S, Lin CJF, Spino C
Ann Rheum Dis 2021 May;80(5):641-650. Epub 2020 Nov 30 doi: 10.1136/annrheumdis-2020-219100. PMID: 33257497Free PMC Article
Khanna D, Lin CJF, Furst DE, Goldin J, Kim G, Kuwana M, Allanore Y, Matucci-Cerinic M, Distler O, Shima Y, van Laar JM, Spotswood H, Wagner B, Siegel J, Jahreis A, Denton CP; focuSSced investigators
Lancet Respir Med 2020 Oct;8(10):963-974. Epub 2020 Aug 28 doi: 10.1016/S2213-2600(20)30318-0. PMID: 32866440
Distler O, Highland KB, Gahlemann M, Azuma A, Fischer A, Mayes MD, Raghu G, Sauter W, Girard M, Alves M, Clerisme-Beaty E, Stowasser S, Tetzlaff K, Kuwana M, Maher TM; SENSCIS Trial Investigators
N Engl J Med 2019 Jun 27;380(26):2518-2528. Epub 2019 May 20 doi: 10.1056/NEJMoa1903076. PMID: 31112379
Sullivan KM, Goldmuntz EA, Keyes-Elstein L, McSweeney PA, Pinckney A, Welch B, Mayes MD, Nash RA, Crofford LJ, Eggleston B, Castina S, Griffith LM, Goldstein JS, Wallace D, Craciunescu O, Khanna D, Folz RJ, Goldin J, St Clair EW, Seibold JR, Phillips K, Mineishi S, Simms RW, Ballen K, Wener MH, Georges GE, Heimfeld S, Hosing C, Forman S, Kafaja S, Silver RM, Griffing L, Storek J, LeClercq S, Brasington R, Csuka ME, Bredeson C, Keever-Taylor C, Domsic RT, Kahaleh MB, Medsger T, Furst DE; SCOT Study Investigators
N Engl J Med 2018 Jan 4;378(1):35-47. doi: 10.1056/nejmoa1703327. PMID: 29298160Free PMC Article

Prognosis

Ngo K
Adv Exp Med Biol 2021;1303:173-182. doi: 10.1007/978-3-030-63046-1_10. PMID: 33788193
Khanna D, Huang S, Lin CJF, Spino C
Ann Rheum Dis 2021 May;80(5):641-650. Epub 2020 Nov 30 doi: 10.1136/annrheumdis-2020-219100. PMID: 33257497Free PMC Article
Khanna D, Lin CJF, Furst DE, Goldin J, Kim G, Kuwana M, Allanore Y, Matucci-Cerinic M, Distler O, Shima Y, van Laar JM, Spotswood H, Wagner B, Siegel J, Jahreis A, Denton CP; focuSSced investigators
Lancet Respir Med 2020 Oct;8(10):963-974. Epub 2020 Aug 28 doi: 10.1016/S2213-2600(20)30318-0. PMID: 32866440
Sullivan KM, Goldmuntz EA, Keyes-Elstein L, McSweeney PA, Pinckney A, Welch B, Mayes MD, Nash RA, Crofford LJ, Eggleston B, Castina S, Griffith LM, Goldstein JS, Wallace D, Craciunescu O, Khanna D, Folz RJ, Goldin J, St Clair EW, Seibold JR, Phillips K, Mineishi S, Simms RW, Ballen K, Wener MH, Georges GE, Heimfeld S, Hosing C, Forman S, Kafaja S, Silver RM, Griffing L, Storek J, LeClercq S, Brasington R, Csuka ME, Bredeson C, Keever-Taylor C, Domsic RT, Kahaleh MB, Medsger T, Furst DE; SCOT Study Investigators
N Engl J Med 2018 Jan 4;378(1):35-47. doi: 10.1056/nejmoa1703327. PMID: 29298160Free 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

Clinical prediction guides

Clark KEN, Xu S, Attah M, Ong VH, Buckley CD, Denton CP
Ann Rheum Dis 2023 Dec;82(12):1568-1579. Epub 2023 Aug 14 doi: 10.1136/ard-2023-224184. PMID: 37580109Free PMC Article
Khanna D, Huang S, Lin CJF, Spino C
Ann Rheum Dis 2021 May;80(5):641-650. Epub 2020 Nov 30 doi: 10.1136/annrheumdis-2020-219100. PMID: 33257497Free PMC Article
Khanna D, Lin CJF, Furst DE, Goldin J, Kim G, Kuwana M, Allanore Y, Matucci-Cerinic M, Distler O, Shima Y, van Laar JM, Spotswood H, Wagner B, Siegel J, Jahreis A, Denton CP; focuSSced investigators
Lancet Respir Med 2020 Oct;8(10):963-974. Epub 2020 Aug 28 doi: 10.1016/S2213-2600(20)30318-0. PMID: 32866440
Distler O, Highland KB, Gahlemann M, Azuma A, Fischer A, Mayes MD, Raghu G, Sauter W, Girard M, Alves M, Clerisme-Beaty E, Stowasser S, Tetzlaff K, Kuwana M, Maher TM; SENSCIS Trial Investigators
N Engl J Med 2019 Jun 27;380(26):2518-2528. Epub 2019 May 20 doi: 10.1056/NEJMoa1903076. PMID: 31112379
Sullivan KM, Goldmuntz EA, Keyes-Elstein L, McSweeney PA, Pinckney A, Welch B, Mayes MD, Nash RA, Crofford LJ, Eggleston B, Castina S, Griffith LM, Goldstein JS, Wallace D, Craciunescu O, Khanna D, Folz RJ, Goldin J, St Clair EW, Seibold JR, Phillips K, Mineishi S, Simms RW, Ballen K, Wener MH, Georges GE, Heimfeld S, Hosing C, Forman S, Kafaja S, Silver RM, Griffing L, Storek J, LeClercq S, Brasington R, Csuka ME, Bredeson C, Keever-Taylor C, Domsic RT, Kahaleh MB, Medsger T, Furst DE; SCOT Study Investigators
N Engl J Med 2018 Jan 4;378(1):35-47. doi: 10.1056/nejmoa1703327. PMID: 29298160Free PMC Article

Recent systematic reviews

Fernández-Lázaro D, Iglesias-Lázaro M, Garrosa E, Rodríguez-García S, Jerves Donoso D, Gutiérrez-Abejón E, Jorge-Finnigan C
Medicina (Kaunas) 2023 Jan 27;59(2) doi: 10.3390/medicina59020247. PMID: 36837449Free PMC Article

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