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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.
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

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
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
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
Scleromyositis: A distinct novel entity within the systemic sclerosis and autoimmune myositis spectrum. Implications for care and pathogenesis.
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
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 in adults. Part I: Clinical features and pathogenesis.
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
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
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 for systemic sclerosis-associated interstitial lung disease.
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
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
Morphea and Eosinophilic Fasciitis: An Update.
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

Incidence and prevalence of interstitial lung diseases worldwide: a systematic literature review.
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
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
Calcinosis in scleroderma.
Valenzuela A, Song P, Chung L
Curr Opin Rheumatol 2018 Nov;30(6):554-561. doi: 10.1097/BOR.0000000000000539. PMID: 30124603
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 inflammation and fibrosis patterns in systemic sclerosis, evaluated by magnetic resonance imaging: An update.
Mavrogeni S, Pepe A, Gargani L, Bruni C, Quaia E, Kitas GD, Sfikakis PP, Matucci-Cerinic M
Semin Arthritis Rheum 2023 Feb;58:152126. Epub 2022 Nov 18 doi: 10.1016/j.semarthrit.2022.152126. PMID: 36434895
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
Interstitial lung disease in systemic sclerosis: current and future treatment.
Giacomelli R, Liakouli V, Berardicurti O, Ruscitti P, Di Benedetto P, Carubbi F, Guggino G, Di Bartolomeo S, Ciccia F, Triolo G, Cipriani P
Rheumatol Int 2017 Jun;37(6):853-863. Epub 2017 Jan 6 doi: 10.1007/s00296-016-3636-7. PMID: 28063071
Interstitial lung disease in systemic sclerosis: a simple staging system.
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

Prevalence, imaging patterns and risk factors of interstitial lung disease in connective tissue disease: a systematic review and meta-analysis.
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
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
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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