H01492 | |
H number | H01492 |
Name | Systemic sclerosis; Systemic scleroderma |
Description | Systemic sclerosis (scleroderma) is an autoimmune disease that is characterized by fibrosis of the skin and major internal organs. The core symptoms of this disease are Raynaud's phenomenon, skin thickening, Nail-fold capillary, and serum autoantibody production. Systemic sclerosis can manifest as either the diffuse or the limited variant, distinguished by the degree and the extent of cutaneous sclerosis. A highly variable clinical course exists that spans from mild and subtle findings to aggressive life-threatening multisystem disease. Anti-nuclear antibodies (ANA) are present in more than 90% of patients, and these ANA react against various intracellular components. However, one patient rarely has two or more types of ANA. The particular ANA types are often indicative of clinical features, disease course and overall severity. At present, there is no treatment that has been proven to modify the overall disease course, but therapy that targets specific organ involvement early before irreversible damage occurs does improve both quality of life and survival. Although the precise pathogenesis of this disease remains unknown, the consensus is that it is triggered in genetically-susceptible individuals by exposure to specific environmental agents. |
Category | Immune system disease; Skin disease |
Network | - |
Gene | HLA-DRB1 (polymorphism) [HSA:3123] [KO:K06752] HLA-DPA1 (polymorphism) [HSA:3113] [KO:K06752] HLA-DPB1 (polymorphism) [HSA:3115] [KO:K06752] HLA-DQA1 (polymorphism) [HSA:3117] [KO:K06752] HLA-DQB1 (polymorphism) [HSA:3119] [KO:K06752] STAT4 (polymorphism) [HSA:6775] [KO:K11222] IRF5 (polymorphism) [HSA:3663] [KO:K09446] CD247 (polymorphism) [HSA:919] [KO:K06453] PTPN22 (polymorphism) [HSA:26191] [KO:K18024] BANK1 (polymorphism) [HSA:55024] [KO:K26239] TNFAIP3 (polymorphism) [HSA:7128] [KO:K11859] TNIP1 (polymorphism) [HSA:10318] [KO:K23829] TNFSF4 (polymorphism) [HSA:7292] [KO:K05469] IL-1A (polymorphism) [HSA:3552] [KO:K04383] IL-1B (polymorphism) [HSA:3553] [KO:K04519] IL-1R1 (polymorphism) [HSA:3554] [KO:K04386] CCR6 (polymorphism) [HSA:1235] [KO:K04181] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | Tocilizumab [DR:D02596] |
Comment | CREST syndrome is the limited cutaneous form of systemic sclerosis. |
Other DBs | ICD-11: 4A42 ICD-10: M34 MeSH: D012595 OMIM: 181750 |
Reference | PMID:23541012 AUTHORS Shah AA, Wigley FM TITLE My approach to the treatment of scleroderma. JOURNAL Mayo Clin Proc 88:377-93 (2013) DOI:10.1016/j.mayocp.2013.01.018 PMID:20175839 AUTHORS Hamaguchi Y TITLE Autoantibody profiles in systemic sclerosis: predictive value for clinical evaluation and prognosis. JOURNAL J Dermatol 37:42-53 (2010) DOI:10.1111/j.1346-8138.2009.00762.x PMID:25777745 AUTHORS Korman BD, Criswell LA TITLE Recent advances in the genetics of systemic sclerosis: toward biological and clinical significance. JOURNAL Curr Rheumatol Rep 17:21 (2015) DOI:10.1007/s11926-014-0484-x PMID:26826434 AUTHORS Murdaca G, Contatore M, Gulli R, Mandich P, Puppo F TITLE Genetic factors and systemic sclerosis. JOURNAL Autoimmun Rev 15:427-32 (2016) DOI:10.1016/j.autrev.2016.01.016 PMID:19758208 AUTHORS Arnson Y, Amital H, Guiducci S, Matucci-Cerinic M, Valentini G, Barzilai O, Maya R, Shoenfeld Y TITLE The role of infections in the immunopathogensis of systemic sclerosis--evidence from serological studies. JOURNAL Ann N Y Acad Sci 1173:627-32 (2009) DOI:10.1111/j.1749-6632.2009.04808.x PMID:21691743 AUTHORS Poormoghim H, Moradi Lakeh M, Mohammadipour M, Sodagari F, Toofaninjed N TITLE Cyclophosphamide for scleroderma lung disease: a systematic review and meta-analysis. JOURNAL Rheumatol Int 32:2431-44 (2012) DOI:10.1007/s00296-011-1967-y PMID:25475597 AUTHORS Carlson DA, Hinchcliff M, Pandolfino JE TITLE Advances in the evaluation and management of esophageal disease of systemic sclerosis. JOURNAL Curr Rheumatol Rep 17:475 (2015) DOI:10.1007/s11926-014-0475-y PMID:24387049 AUTHORS Murdaca G, Spano F, Puppo F TITLE Current therapies for the treatment of systemic sclerosis-related pulmonary arterial hypertension: efficacy and safety. JOURNAL Expert Opin Drug Saf 13:295-305 (2014) DOI:10.1517/14740338.2014.872238 PMID:21061100 AUTHORS Bussone G, Berezne A, Pestre V, Guillevin L, Mouthon L TITLE The scleroderma kidney: progress in risk factors, therapy, and prevention. JOURNAL Curr Rheumatol Rep 13:37-43 (2011) DOI:10.1007/s11926-010-0145-7 PMID:21184655 AUTHORS Shetty N, Derk CT TITLE Endothelin receptor antagonists as disease modifiers in systemic sclerosis. JOURNAL Inflamm Allergy Drug Targets 10:19-26 (2011) DOI:10.2174/187152811794352088 |