Xeroderma Pigmentosum

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Retrieved

2022-04-26

Source

Gard

Trials

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Genes

XPA, XPC, POLH, ERCC5, ERCC2, ERCC1, DDB2, ERCC4, ERCC3, TERF2, GTF2H1, TP53, NR1H2, BIVM-ERCC5, GTF2H2, GTF2H3, GTF2H5, GTF2H4, POLQ, CAT, XRCC1, CSH2, XRCC6P5, HPRT1, LIG4, ERCC6, CSH1, HRAS, OGG1, HPGDS, PCNA, PTEN, XRCC3, ENDOV, CDKN2A, GSTM1, SIRT1, MC1R, LCE2B, HSPA9, RAD23A, NRAS, FUS, WDR76, ATR, BRIP1, CHEK1, DDB1, BCL2, DECR1, ERCC8, CCNH, ATM, TYMS, BTN2A2, PTF1A, IRF9, EXO1, HERC2, RAD54L, H3P38, PDIK1L, HFM1, UBE3B, USP7, IFI44, XRCC2, CATSPER1, TDG, SLX4, XYLT2, VPS11, RTEL1, CRLF3, DEFB103A, DEFB103B, MEPE, WDR77, LRRC59, RNU1-1, VEPH1, PRDX5, SMUG1, AAGAB, KAT7, ZC3H12D, NAT1, TALDO1, CGA, FEN1, EGFR, NQO1, TIMM8A, DDX11, GADD45A, CYP1B1, CSNK2A1, CRYZ, COMT, CETN2, SYCP1, CDK7, CDK4, DDR1, BRAF, BRCA1, BAX, ATF3, ASIP, FAS, APEX1, GOT1, GSTM2, GSTT1, HGF, SULT1A1, STAT3, ST13, SMO, RNU2-1, RNU1-4, RECQL, RAD23B, PTCH1, PTAFR, MAPK8, PRKDC, POMC, AKT1, ODC1, NPM1, NCAM1, MYC, MPO, LBR, KIT, H3P33

Drugs

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Xeroderma pigmentosum (XP) causes the skin and eyes to be extra sensitive to exposure to ultraviolet radiation from the sun and other sources. Symptoms begin in early childhood. People with XP can develop bad sunburns, blistering, and freckling in response to sunlight. The eyes may develop light sensitivity, corneal clouding, and swelling. Some people with XP have nervous system involvement as well. People with XP are at very high risk of developing skin cancer and other types of cancers. XP is caused by variants in one of at least nine genes involved in repairing damaged DNA. XP is inherited in an autosomal recessive pattern. Diagnosis is based on the clinical findings and specialized testing on skin cells. The diagnosis can be confirmed by the results of genetic testing. Treatment is focused on managing the symptoms. This includes avoiding sun exposure and performing frequent screenings for skin cancer and other cancers.