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Systemic sclerosis

MedGen UID:
19897
Concept ID:
C0036421
Disease or Syndrome
Synonyms: Scleroderma, Systemic; Sclerosis, Systemic; Systemic Scleroderma; Systemic Sclerosis
SNOMED CT: Systemic sclerosis (89155008); Systemic scleroderma (89155008); SS - Systemic sclerosis (89155008)
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:0005100
Orphanet: ORPHA90291

Definition

Systemic sclerosis (SSc) is a generalized disorder of small arteries, microvessels and connective tissue, characterized by fibrosis and vascular obliteration in the skin and organs, particularly the lungs, heart, and digestive tract. There are two main subsets of SSc: diffuse cutaneous SSc (dcSSc) and limited cutaneous SSc (lcSSc) (see these terms). A third subset of SSc has also been observed, called limited Systemic Sclerosis (lSSc) or systemic sclerosis sine scleroderma (see these terms). [from ORDO]

Professional guidelines

PubMed

Pope JE, Denton CP, Johnson SR, Fernandez-Codina A, Hudson M, Nevskaya T
Nat Rev Rheumatol 2023 Apr;19(4):212-226. Epub 2023 Feb 27 doi: 10.1038/s41584-023-00909-5. PMID: 36849541Free PMC Article
Kowal-Bielecka O, Fransen J, Avouac J, Becker M, Kulak A, Allanore Y, Distler O, Clements P, Cutolo M, Czirjak L, Damjanov N, Del Galdo F, Denton CP, Distler JHW, Foeldvari I, Figelstone K, Frerix M, Furst DE, Guiducci S, Hunzelmann N, Khanna D, Matucci-Cerinic M, Herrick AL, van den Hoogen F, van Laar JM, Riemekasten G, Silver R, Smith V, Sulli A, Tarner I, Tyndall A, Welling J, Wigley F, Valentini G, Walker UA, Zulian F, Müller-Ladner U; EUSTAR Coauthors
Ann Rheum Dis 2017 Aug;76(8):1327-1339. Epub 2016 Nov 9 doi: 10.1136/annrheumdis-2016-209909. PMID: 27941129
van den Hoogen F, Khanna D, Fransen J, Johnson SR, Baron M, Tyndall A, Matucci-Cerinic M, Naden RP, Medsger TA Jr, Carreira PE, Riemekasten G, Clements PJ, Denton CP, Distler O, Allanore Y, Furst DE, Gabrielli A, Mayes MD, van Laar JM, Seibold JR, Czirjak L, Steen VD, Inanc M, Kowal-Bielecka O, Müller-Ladner U, Valentini G, Veale DJ, Vonk MC, Walker UA, Chung L, Collier DH, Ellen Csuka M, Fessler BJ, Guiducci S, Herrick A, Hsu VM, Jimenez S, Kahaleh B, Merkel PA, Sierakowski S, Silver RM, Simms RW, Varga J, Pope JE
Ann Rheum Dis 2013 Nov;72(11):1747-55. doi: 10.1136/annrheumdis-2013-204424. PMID: 24092682

Recent clinical studies

Etiology

Volkmann ER, Andréasson K, Smith V
Lancet 2023 Jan 28;401(10373):304-318. Epub 2022 Nov 25 doi: 10.1016/S0140-6736(22)01692-0. PMID: 36442487Free PMC Article
Giannini M, Ellezam B, Leclair V, Lefebvre F, Troyanov Y, Hudson M, Senécal JL, Geny B, Landon-Cardinal O, Meyer A
Front Immunol 2022;13:974078. Epub 2023 Jan 26 doi: 10.3389/fimmu.2022.974078. PMID: 36776390Free PMC Article
Li SC
Pediatr Clin North Am 2018 Aug;65(4):757-781. doi: 10.1016/j.pcl.2018.04.002. PMID: 30031497
Kucharz EJ, Kopeć-Mędrek M
Adv Clin Exp Med 2017 Aug;26(5):875-880. doi: 10.17219/acem/64334. PMID: 29068586
Allanore Y, Simms R, Distler O, Trojanowska M, Pope J, Denton CP, Varga J
Nat Rev Dis Primers 2015 Apr 23;1:15002. doi: 10.1038/nrdp.2015.2. PMID: 27189141

Diagnosis

Di Battista M, Lepri G, Codullo V, Da Rio M, Fiorentini E, Della Rossa A, Guiducci S
Clin Exp Rheumatol 2023 Aug;41(8):1567-1574. Epub 2023 May 17 doi: 10.55563/clinexprheumatol/ki76s5. PMID: 37199215
Volkmann ER, Andréasson K, Smith V
Lancet 2023 Jan 28;401(10373):304-318. Epub 2022 Nov 25 doi: 10.1016/S0140-6736(22)01692-0. PMID: 36442487Free PMC Article
Jerjen R, Nikpour M, Krieg T, Denton CP, Saracino AM
J Am Acad Dermatol 2022 Nov;87(5):937-954. Epub 2022 Feb 4 doi: 10.1016/j.jaad.2021.10.065. PMID: 35131402
Perelas A, Silver RM, Arrossi AV, Highland KB
Lancet Respir Med 2020 Mar;8(3):304-320. Epub 2020 Feb 27 doi: 10.1016/S2213-2600(19)30480-1. PMID: 32113575
Denton CP, Khanna D
Lancet 2017 Oct 7;390(10103):1685-1699. Epub 2017 Apr 13 doi: 10.1016/S0140-6736(17)30933-9. PMID: 28413064

Therapy

Pope JE, Denton CP, Johnson SR, Fernandez-Codina A, Hudson M, Nevskaya T
Nat Rev Rheumatol 2023 Apr;19(4):212-226. Epub 2023 Feb 27 doi: 10.1038/s41584-023-00909-5. PMID: 36849541Free PMC Article
Roofeh D, Lescoat A, Khanna D
Curr Opin Rheumatol 2021 May 1;33(3):240-248. doi: 10.1097/BOR.0000000000000795. PMID: 33741803Free 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
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
Mertens JS, Seyger MMB, Thurlings RM, Radstake TRDJ, de Jong EMGJ
Am J Clin Dermatol 2017 Aug;18(4):491-512. doi: 10.1007/s40257-017-0269-x. PMID: 28303481Free PMC Article

Prognosis

Shah Gupta R, Koteci A, Morgan A, George PM, Quint JK
BMJ Open Respir Res 2023 Jun;10(1) doi: 10.1136/bmjresp-2022-001291. PMID: 37308252Free PMC Article
Wang Y, Chen S, Zheng S, Lin J, Hu S, Zhuang J, Lin Q, Xie X, Zheng K, Zhang W, Du G, Zhang G, Hoffmann-Vold AM, Matucci-Cerinic M, Furst DE
Arthritis Res Ther 2021 Aug 14;23(1):212. doi: 10.1186/s13075-021-02586-9. PMID: 34391465Free PMC Article
Valenzuela A, Song P, Chung L
Curr Opin Rheumatol 2018 Nov;30(6):554-561. doi: 10.1097/BOR.0000000000000539. PMID: 30124603
Elhai M, Meune C, Boubaya M, Avouac J, Hachulla E, Balbir-Gurman A, Riemekasten G, Airò P, Joven B, Vettori S, Cozzi F, Ullman S, Czirják L, Tikly M, Müller-Ladner U, Caramaschi P, Distler O, Iannone F, Ananieva LP, Hesselstrand R, Becvar R, Gabrielli A, Damjanov N, Salvador MJ, Riccieri V, Mihai C, Szücs G, Walker UA, Hunzelmann N, Martinovic D, Smith V, Müller CS, Montecucco CM, Opris D, Ingegnoli F, Vlachoyiannopoulos PG, Stamenkovic B, Rosato E, Heitmann S, Distler JHW, Zenone T, Seidel M, Vacca A, Langhe E, Novak S, Cutolo M, Mouthon L, Henes J, Chizzolini C, Mühlen CAV, Solanki K, Rednic S, Stamp L, Anic B, Santamaria VO, De Santis M, Yavuz S, Sifuentes-Giraldo WA, Chatelus E, Stork J, Laar JV, Loyo E, García de la Peña Lefebvre P, Eyerich K, Cosentino V, Alegre-Sancho JJ, Kowal-Bielecka O, Rey G, Matucci-Cerinic M, Allanore Y; EUSTAR group
Ann Rheum Dis 2017 Nov;76(11):1897-1905. Epub 2017 Aug 23 doi: 10.1136/annrheumdis-2017-211448. PMID: 28835464
Cooper GS, Stroehla BC
Autoimmun Rev 2003 May;2(3):119-25. doi: 10.1016/s1568-9972(03)00006-5. PMID: 12848952

Clinical prediction guides

Ikonomidis I, Makavos G, Katsimbri P, Boumpas DT, Parissis J, Iliodromitis E
JACC Cardiovasc Imaging 2019 Dec;12(12):2517-2537. Epub 2019 Mar 13 doi: 10.1016/j.jcmg.2018.06.033. PMID: 30878436
Zulian F
Best Pract Res Clin Rheumatol 2017 Aug;31(4):576-595. Epub 2018 Mar 27 doi: 10.1016/j.berh.2018.02.004. PMID: 29773274
Belch J, Carlizza A, Carpentier PH, Constans J, Khan F, Wautrecht JC, Visona A, Heiss C, Brodeman M, Pécsvárady Z, Roztocil K, Colgan MP, Vasic D, Gottsäter A, Amann-Vesti B, Chraim A, Poredoš P, Olinic DM, Madaric J, Nikol S, Herrick AL, Sprynger M, Klein-Weigel P, Hafner F, Staub D, Zeman Z
Vasa 2017 Oct;46(6):413-423. Epub 2017 Sep 12 doi: 10.1024/0301-1526/a000661. PMID: 28895508
Valentini G, Iudici M, Walker UA, Jaeger VK, Baron M, Carreira P, Czirják L, Denton CP, Distler O, Hachulla E, Herrick AL, Kowal-Bielecka O, Pope J, Müller-Ladner U, Riemekasten G, Avouac J, Frerix M, Jordan S, Minier T, Siegert E, Ong VH, Vettori S, Allanore Y
Ann Rheum Dis 2017 Jan;76(1):270-276. Epub 2016 Sep 12 doi: 10.1136/annrheumdis-2016-209768. PMID: 27621285
Goh NS, Desai SR, Veeraraghavan S, Hansell DM, Copley SJ, Maher TM, Corte TJ, Sander CR, Ratoff J, Devaraj A, Bozovic G, Denton CP, Black CM, du Bois RM, Wells AU
Am J Respir Crit Care Med 2008 Jun 1;177(11):1248-54. Epub 2008 Mar 27 doi: 10.1164/rccm.200706-877OC. PMID: 18369202

Recent systematic reviews

Shah Gupta R, Koteci A, Morgan A, George PM, Quint JK
BMJ Open Respir Res 2023 Jun;10(1) doi: 10.1136/bmjresp-2022-001291. PMID: 37308252Free PMC Article
Joy GM, Arbiv OA, Wong CK, Lok SD, Adderley NA, Dobosz KM, Johannson KA, Ryerson CJ
Eur Respir Rev 2023 Mar 31;32(167) Epub 2023 Mar 8 doi: 10.1183/16000617.0210-2022. PMID: 36889782Free PMC Article
Moriana C, Moulinet T, Jaussaud R, Decker P
Autoimmun Rev 2022 Oct;21(10):103168. Epub 2022 Aug 6 doi: 10.1016/j.autrev.2022.103168. PMID: 35944611
Kaegi C, Wuest B, Schreiner J, Steiner UC, Vultaggio A, Matucci A, Crowley C, Boyman O
Front Immunol 2019;10:1990. Epub 2019 Sep 6 doi: 10.3389/fimmu.2019.01990. PMID: 31555262Free PMC Article
Kowal-Bielecka O, Fransen J, Avouac J, Becker M, Kulak A, Allanore Y, Distler O, Clements P, Cutolo M, Czirjak L, Damjanov N, Del Galdo F, Denton CP, Distler JHW, Foeldvari I, Figelstone K, Frerix M, Furst DE, Guiducci S, Hunzelmann N, Khanna D, Matucci-Cerinic M, Herrick AL, van den Hoogen F, van Laar JM, Riemekasten G, Silver R, Smith V, Sulli A, Tarner I, Tyndall A, Welling J, Wigley F, Valentini G, Walker UA, Zulian F, Müller-Ladner U; EUSTAR Coauthors
Ann Rheum Dis 2017 Aug;76(8):1327-1339. Epub 2016 Nov 9 doi: 10.1136/annrheumdis-2016-209909. PMID: 27941129

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