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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); Scleroderma syndrome (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 a mixture of major and minor genetic determinants possibly together with environmental factors. Diseases inherited in this manner are termed complex diseases.
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: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

Current advances in the treatment of systemic sclerosis.
Bukiri H, Volkmann ER
Curr Opin Pharmacol 2022 Jun;64:102211. Epub 2022 Apr 18 doi: 10.1016/j.coph.2022.102211. PMID: 35447517Free PMC Article
The Diagnosis and Treatment of Sjögren's Syndrome.
Stefanski AL, Tomiak C, Pleyer U, Dietrich T, Burmester GR, Dörner T
Dtsch Arztebl Int 2017 May 26;114(20):354-361. doi: 10.3238/arztebl.2017.0354. PMID: 28610655Free PMC Article
Update of EULAR recommendations for the treatment of systemic sclerosis.
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

Recent clinical studies

Etiology

Systemic sclerosis.
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
Renal Involvement in Systemic Sclerosis: An Update.
Chrabaszcz M, Małyszko J, Sikora M, Alda-Malicka R, Stochmal A, Matuszkiewicz-Rowinska J, Rudnicka L
Kidney Blood Press Res 2020;45(4):532-548. Epub 2020 Jun 10 doi: 10.1159/000507886. PMID: 32521536
Scleroderma in Children and Adolescents: Localized Scleroderma and Systemic Sclerosis.
Li SC
Pediatr Clin North Am 2018 Aug;65(4):757-781. doi: 10.1016/j.pcl.2018.04.002. PMID: 30031497
Systemic sclerosis sine scleroderma.
Kucharz EJ, Kopeć-Mędrek M
Adv Clin Exp Med 2017 Aug;26(5):875-880. doi: 10.17219/acem/64334. PMID: 29068586
Systemic sclerosis.
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

Systemic sclerosis.
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
Systemic sclerosis-associated interstitial lung disease.
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
Antinuclear Antibodies in Systemic Sclerosis: an Update.
Stochmal A, Czuwara J, Trojanowska M, Rudnicka L
Clin Rev Allergy Immunol 2020 Feb;58(1):40-51. doi: 10.1007/s12016-018-8718-8. PMID: 30607749
Systemic sclerosis.
Hughes M, Herrick AL
Br J Hosp Med (Lond) 2019 Sep 2;80(9):530-536. doi: 10.12968/hmed.2019.80.9.530. PMID: 31498665
Systemic sclerosis.
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

State-of-the-art evidence in the treatment of systemic sclerosis.
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
Treatment of systemic sclerosis.
Thoreau B, Chaigne B, Renaud A, Mouthon L
Presse Med 2021 Apr;50(1):104088. Epub 2021 Oct 28 doi: 10.1016/j.lpm.2021.104088. PMID: 34718109
Treatment of calcinosis cutis in systemic sclerosis and dermatomyositis: A review of the literature.
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
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
Interstitial lung disease associated with systemic sclerosis (SSc-ILD).
Cottin V, Brown KK
Respir Res 2019 Jan 18;20(1):13. doi: 10.1186/s12931-019-0980-7. PMID: 30658650Free PMC Article

Prognosis

The role of lung ultrasound B-lines and serum KL-6 in the screening and follow-up of rheumatoid arthritis patients for an identification of interstitial lung disease: review of the literature, proposal for a preliminary algorithm, and clinical application to cases.
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
Epidemiology and Treatment of Peripheral Neuropathy in Systemic Sclerosis.
AlMehmadi BA, To FZ, Anderson MA, Johnson SR
J Rheumatol 2021 Dec;48(12):1839-1849. Epub 2021 Jul 1 doi: 10.3899/jrheum.201299. PMID: 34210833
Mapping and predicting mortality from systemic sclerosis.
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
Systemic sclerosis.
Hughes M, Herrick A
Br J Hosp Med (Lond) 2012 Sep;73(9):509-10, 511-6. doi: 10.12968/hmed.2012.73.9.509. PMID: 23124403
The epidemiology of autoimmune diseases.
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

Cardiac Imaging for Coronary Heart Disease Risk Stratification in Chronic Kidney Disease.
Dilsizian V, Gewirtz H, Marwick TH, Kwong RY, Raggi P, Al-Mallah MH, Herzog CA
JACC Cardiovasc Imaging 2021 Mar;14(3):669-682. Epub 2020 Aug 19 doi: 10.1016/j.jcmg.2020.05.035. PMID: 32828780
Nailfold avascular score and coronary microvascular dysfunction in systemic sclerosis: A newsworthy association.
Zanatta E, Famoso G, Boscain F, Montisci R, Pigatto E, Polito P, Schiavon F, Iliceto S, Cozzi F, Doria A, Tona F
Autoimmun Rev 2019 Feb;18(2):177-183. Epub 2018 Dec 18 doi: 10.1016/j.autrev.2018.09.002. PMID: 30572139
Clinical applications of multi-parametric CMR in myocarditis and systemic inflammatory diseases.
Lagan J, Schmitt M, Miller CA
Int J Cardiovasc Imaging 2018 Jan;34(1):35-54. Epub 2017 Jan 27 doi: 10.1007/s10554-017-1063-9. PMID: 28130644Free PMC Article
Scleroderma in children.
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
ESVM guidelines - the diagnosis and management of Raynaud's phenomenon.
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

Recent systematic reviews

JAK inhibitors and systemic sclerosis: A systematic review of the literature.
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
2020 guide for the diagnosis and treatment of interstitial lung disease associated with connective tissue disease.
Kondoh Y, Makino S, Ogura T, Suda T, Tomioka H, Amano H, Anraku M, Enomoto N, Fujii T, Fujisawa T, Gono T, Harigai M, Ichiyasu H, Inoue Y, Johkoh T, Kameda H, Kataoka K, Katsumata Y, Kawaguchi Y, Kawakami A, Kitamura H, Kitamura N, Koga T, Kurasawa K, Nakamura Y, Nakashima R, Nishioka Y, Nishiyama O, Okamoto M, Sakai F, Sakamoto S, Sato S, Shimizu T, Takayanagi N, Takei R, Takemura T, Takeuchi T, Toyoda Y, Yamada H, Yamakawa H, Yamano Y, Yamasaki Y, Kuwana M; joint committee of Japanese Respiratory Society and Japan College of Rheumatology
Respir Investig 2021 Nov;59(6):709-740. Epub 2021 Oct 1 doi: 10.1016/j.resinv.2021.04.011. PMID: 34602377
Treatment of calcinosis cutis in systemic sclerosis and dermatomyositis: A review of the literature.
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
Systematic Review of Safety and Efficacy of Rituximab in Treating Immune-Mediated Disorders.
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
Update of EULAR recommendations for the treatment of systemic sclerosis.
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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