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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.
See: This record
Non-Mendelian inheritance (Orphanet)
Not genetically inherited (Orphanet)
 
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

Treatment decision-making in diffuse cutaneous systemic sclerosis: a patient's perspective.
Spierings J, van Rhijn-Brouwer FCC, de Bresser CJM, Mosterman PTM, Pieterse AH, Vonk MC, Voskuyl AE, de Vries-Bouwstra JK, Kars MC, van Laar JM
Rheumatology (Oxford) 2020 Aug 1;59(8):2052-2061. doi: 10.1093/rheumatology/kez579. PMID: 31808528Free PMC Article
Management of Systemic Sclerosis-Related Skin Disease: A Review of Existing and Experimental Therapeutic Approaches.
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
Treatment of early diffuse systemic sclerosis skin disease.
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

New composite endpoint in early diffuse cutaneous systemic sclerosis: revisiting the provisional American College of Rheumatology Composite Response Index in Systemic Sclerosis.
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: 33257497
Tocilizumab in systemic sclerosis: a randomised, double-blind, placebo-controlled, phase 3 trial.
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
Nintedanib for Systemic Sclerosis-Associated Interstitial Lung Disease.
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
Myeloablative Autologous Stem-Cell Transplantation for Severe Scleroderma.
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
Cutaneous Manifestations of Scleroderma and Scleroderma-Like Disorders: a Comprehensive Review.
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

Skin involvement in early diffuse cutaneous systemic sclerosis: an unmet clinical need.
Herrick AL, Assassi S, Denton CP
Nat Rev Rheumatol 2022 May;18(5):276-285. Epub 2022 Mar 15 doi: 10.1038/s41584-022-00765-9. PMID: 35292731Free PMC Article
Systemic Sclerosis and Pulmonary Disease.
Ngo K
Adv Exp Med Biol 2021;1303:173-182. doi: 10.1007/978-3-030-63046-1_10. PMID: 33788193
Tocilizumab in systemic sclerosis: a randomised, double-blind, placebo-controlled, phase 3 trial.
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
Nintedanib for Systemic Sclerosis-Associated Interstitial Lung Disease.
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
Cutaneous Manifestations of Scleroderma and Scleroderma-Like Disorders: a Comprehensive Review.
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

Therapy

New composite endpoint in early diffuse cutaneous systemic sclerosis: revisiting the provisional American College of Rheumatology Composite Response Index in Systemic Sclerosis.
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: 33257497
Tocilizumab in systemic sclerosis: a randomised, double-blind, placebo-controlled, phase 3 trial.
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
Nintedanib for Systemic Sclerosis-Associated Interstitial Lung Disease.
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
Myeloablative Autologous Stem-Cell Transplantation for Severe Scleroderma.
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
Autologous hematopoietic stem cell transplantation vs intravenous pulse cyclophosphamide in diffuse cutaneous systemic sclerosis: a randomized clinical trial.
van Laar JM, Farge D, Sont JK, Naraghi K, Marjanovic Z, Larghero J, Schuerwegh AJ, Marijt EW, Vonk MC, Schattenberg AV, Matucci-Cerinic M, Voskuyl AE, van de Loosdrecht AA, Daikeler T, Kötter I, Schmalzing M, Martin T, Lioure B, Weiner SM, Kreuter A, Deligny C, Durand JM, Emery P, Machold KP, Sarrot-Reynauld F, Warnatz K, Adoue DF, Constans J, Tony HP, Del Papa N, Fassas A, Himsel A, Launay D, Lo Monaco A, Philippe P, Quéré I, Rich É, Westhovens R, Griffiths B, Saccardi R, van den Hoogen FH, Fibbe WE, Socié G, Gratwohl A, Tyndall A; EBMT/EULAR Scleroderma Study Group
JAMA 2014 Jun 25;311(24):2490-8. doi: 10.1001/jama.2014.6368. PMID: 25058083

Prognosis

Systemic Sclerosis and Pulmonary Disease.
Ngo K
Adv Exp Med Biol 2021;1303:173-182. doi: 10.1007/978-3-030-63046-1_10. PMID: 33788193
New composite endpoint in early diffuse cutaneous systemic sclerosis: revisiting the provisional American College of Rheumatology Composite Response Index in Systemic Sclerosis.
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: 33257497
Tocilizumab in systemic sclerosis: a randomised, double-blind, placebo-controlled, phase 3 trial.
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
Myeloablative Autologous Stem-Cell Transplantation for Severe Scleroderma.
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
Cutaneous Manifestations of Scleroderma and Scleroderma-Like Disorders: a Comprehensive Review.
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

Systemic Sclerosis and Pulmonary Disease.
Ngo K
Adv Exp Med Biol 2021;1303:173-182. doi: 10.1007/978-3-030-63046-1_10. PMID: 33788193
New composite endpoint in early diffuse cutaneous systemic sclerosis: revisiting the provisional American College of Rheumatology Composite Response Index in Systemic Sclerosis.
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: 33257497
Tocilizumab in systemic sclerosis: a randomised, double-blind, placebo-controlled, phase 3 trial.
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
Nintedanib for Systemic Sclerosis-Associated Interstitial Lung Disease.
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
Myeloablative Autologous Stem-Cell Transplantation for Severe Scleroderma.
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

Impact of Innovative Treatment Using Biological Drugs for the Modulation of Diffuse Cutaneous Systemic Sclerosis: A Systematic Review.
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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