Scleroderma

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Retrieved

2021-01-23

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Genes

LMNA, TNF, CSF3, XYLT2, LBR, PAH, SLC29A3, POLD1, CCN2, CLCNKB, UROD, SMAD3, HFE, SLC12A3, UROS, LEMD3, TGFB1, WRN, COL1A2, HLA-DRB1, SS18L1, CCL2, MMP1, TGFBR1, FBN1, SPARC, IL6, HGF, RNPC3, FLI1

LMNA, TNF, CSF3, XYLT2, LBR, PAH, SLC29A3, POLD1, CCN2, CLCNKB, UROD, SMAD3, HFE, SLC12A3, UROS, LEMD3, TGFB1, WRN, COL1A2, HLA-DRB1, SS18L1, CCL2, MMP1, TGFBR1, FBN1, SPARC, IL6, HGF, RNPC3, FLI1, EDN1, FN1, MAPK1, IFNG, SMAD7, COL1A1, IL13, PDGFRB, CYCS, IL1B, HLA-DQB1, RBM45, TLR4, ICAM1, CAV1, POLR3A, TNFSF14, KL, POLDIP2, MYBL2, DKK1, CCN1, GZMA, IL10, ITGA5, BTG3, GRAP2, TNC, HLA-G, HLA-DQA1, HLA-DPB1, RNF19A, VEGFA, CSF1, FGF2, STAT4, SRY, TGFBI, TGFBR2, MIR21, MIR196A1, THBS1, HDAC5, TIMP1, CD34, CENPA, SMAD2, CRK, MAPK14, IL2, DBA2, TP53, AIMP2, MMP3, PLAU, ESR1, FBL, EPHB2, ENG, POSTN, EGR1, EDNRB, AHSA1, UBE4A, PPIG, GDF15, PLAA, TSIX, FGF23, KLF4, YY1, TG, THY1, TIMP3, TNFAIP3, TNFRSF1A, TPO, CRISP2, TTN, TXN, VDR, CEBPZ, COPB2, LTBP4, RTCA, PDE5A, TNFSF10, TNFRSF14, TNFRSF10B, ASAP2, EIF2B4, EIF2B2, EIF2S2, EBI3, ACR, ZMPSTE24, PRSS55, TRPV4, FBRS, GORASP1, SMURF2, WNK1, COL18A1, TSSK1B, SPZ1, TSLP, PRRT2, CARD16, SLCO6A1, IL23R, DNAAF3, UBE4B, GSTK1, MIR130B, MIR150, MIR155, MIR17, MIR206, MIR29A, MIR17HG, MIR135B, MIR202, CCR2, C20orf181, KIR2DS2, SPG16, MRTFA, SMURF1, IFT122, TNIP1, EMG1, TNFSF13B, UTP14A, MRPS30, PAPOLA, RNPS1, SPIN1, PDAP1, TUSC2, NID2, TAC1, SMG1, SIRT1, RBFOX2, POLR1A, ERAL1, DNAI1, DLL1, TBX21, ASAP1, CSAD, SCLY, KRT20, BANK1, MTPAP, CARMIL1, TAL1, EXOSC10, SYT1, STAT6, EGR3, EIF2B1, EPHA1, ETS1, EZH2, PTK2B, FCGR2B, FKBP1A, FOXC1, FOXO3, FLII, FOLR2, FPR2, ACKR1, GEM, GLB1, GTF2I, GYPA, HDC, HIF1A, HLA-A, HLA-B, HLA-DRB5, IFI16, IFNA1, IFNA13, IFNAR1, IL1A, IL3, EGR2, EGFR, EGF, CD247, ADA, AKT1, ALDH3A2, ALOX5, ALOX5AP, ABCC6, BCL2, BCL6, BLM, BMP6, BMPR2, CAT, SERPINH1, MS4A1, DNMT1, CD44, CD69, CENPC, LTB4R, COL3A1, COMP, CSF2, NKX2-5, CTLA4, CYP2B6, DECR1, DNAH5, DNASE1L3, IL4, IL13RA1, IL16, PRKCD, PGM1, SERPINE2, PIK3CA, PIK3CB, PIK3CD, PIK3CG, PLAUR, PLOD2, ACP3, POMC, PPARG, PRKCA, PRKCB, MAP2K7, PDGFA, PRS, PRTN3, PSMB6, PTGS2, RELA, S100A9, CCL5, SLC25A1, SP1, SPG7, SRF, SRPK2, STAT3, ENPP2, PCM1, IL17A, MET, ITGAV, ITGB3, KIR2DL2, KIR3DL1, KNG1, KRAS, KRT7, LGALS3, LOX, LOXL2, SMAD4, MBD1, MECP2, KITLG, PCBD1, MIF, MPO, MT3, COX2, MYB, MYC, NOS3, DDR2, OXCT1, P2RX7, SERPINE1, PAK3, REG3A, MTCO2P12

Drugs

(1'R,6'R)-3-(benzylamine)-6-hydroxy-3'-methyl-4-pentyl-6'-(prop-1-en-2-yl)-[1,1'-bi(cyclohexane)]-2',3,6-triene-2,5-dione, 2-(2-chlorophenyl)-4-[3-(dimethylamino)phenyl]-5-methyl-1H-pyrazolo[4,3-c]pyridine-3,6(2H,5H)-dione, 2-[4-Methoxy-3-(2-m-tolyl-ethoxy)-benzoylamino]-indan-2-carboxylic acid, Bosentan ( STAYVEER, TRACLEER ), Caprine hyperimmune serum against HIV lysate, Halofuginone hydrobromide, Human engineered monoclonal antibody specific for transforming growth factor ß1, Lenabasum, Nintedanib ( OFEV ), Nitroglycerin, Paquinimod, Peptide 144 TGF-beta1-inhibitor (TSLDASIIWAMMQN), Pomalidomide ( IMNOVID (previously POMALIDOMIDE CELGENE), POMALYST ), Riociguat ( ADEMPAS ), Terguride, Tocilizumab ( ACTEMRA, ROACTEMRA ), Treprostinil diethanolamine (oral use) ( ORENITRAM ), Type I native bovine skin collagen, autologous adipose tissue-derived stromal vascular fraction cells, romilkimab, ziritaxestat

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Scleroderma is a rare autoimmune connective tissue disorder characterized by abnormal hardening of the skin and, sometimes, other organs. It is classified into two main forms: localized scleroderma and systemic sclerosis (SSc), the latter comprising three subsets; diffuse cutaneous SSc (dcSSc), limited cutaneous SSc (lcSSc) and limited SSc (lSSc) (see these terms).

Epidemiology

The prevalence is estimated at around 1-9/100,000 for localized scleroderma, and 1/6,500 adults for systemic sclerosis. Women are predominantly affected (F/M sex ratio around 4:1).

Clinical description

Localized scleroderma is the cutaneous form of scleroderma characterized by fibrosis of the skin causing cutaneous plaques (morphea) or strips (linear scleroderma). Systemic sclerosis (SSc) is a generalized disorder characterized by fibrosis and vascular obliteration in the skin and organs, particularly, lungs, heart, and digestive tract.

Etiology

The exact cause of scleroderma is unknown. The disease originates from an autoimmune reaction which leads to localized overproduction of collagen. In some cases, the condition is associated with exposure to chemicals. Other suggested causes include genetic and infectious mechanisms.