Xeroderma Pigmentosum (Kaposi's Disease)

A rare, pigmentary, and atrophic autosomal recessive disease. It is manifested as an extreme photosensitivity to ULTRAVIOLET RAYS as the result of a deficiency in the enzyme that permits excisional repair of ultraviolet-damaged DNA.

Also Known As:

Networked: 1684 relevant articles (23 outcomes, 85 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Skin Neoplasms (Skin Cancer)
2.	Neoplasms (Cancer)
3.	Basal Cell Nevus Syndrome (Gorlin Syndrome)
4.	Head and Neck Neoplasms (Head and Neck Cancer)
5.	Squamous Cell Carcinoma (Epidermoid Carcinoma)

Experts

1.	Sarasin, Alain: 22 articles (05/2009 - 01/2002)
2.	Hanaoka, Fumio: 20 articles (05/2015 - 01/2002)
3.	Kraemer, Kenneth H: 20 articles (04/2015 - 06/2002)
4.	Lehmann, Alan R: 17 articles (02/2015 - 01/2002)
5.	Khan, Sikandar G: 15 articles (04/2015 - 06/2002)
6.	Masutani, Chikahide: 14 articles (05/2015 - 01/2002)
7.	Tanaka, Kiyoji: 12 articles (08/2015 - 04/2002)
8.	Egly, Jean-Marc: 11 articles (02/2015 - 06/2003)
9.	Cleaver, James E: 11 articles (07/2014 - 01/2002)
10.	Mori, Toshio: 10 articles (07/2014 - 01/2002)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Xeroderma Pigmentosum:

1.	Isotretinoin (Accutane)FDA LinkGeneric 02/01/1998 - "Effect of isotretinoin therapy on natural killer cell activity in patients with xeroderma pigmentosum." 11/01/1992 - "Xeroderma pigmentosum patients were cleared of all pre-existing tumors surgically and then treated with high dose (2 mg/kg/day) oral isotretinoin (13-cis retinoic acid, Accutane) for two years and then for one year off treatment. " 04/01/2014 - "The role of isotretinoin in cancer prevention and management of malignancies associated in xeroderma pigmentosum is also reviewed through literature." 04/01/2014 - "Role of isotretinoin in cancer prevention and management in malignancies associated with xeroderma pigmentosum." 01/01/1998 - "Xeroderma pigmentosum: spinal cord astrocytoma with 9-year survival after radiation and isotretinoin therapy."
2.	DNA (Deoxyribonucleic Acid)IBA 07/01/1977 - "The T4 enzyme was effective in xeroderma pigmentosum cells on DNA damaged by UV light but not in cells damaged by 4-nitroquinoline 1-oxide. " 09/01/2007 - "These studies effectively rule out any mechanism for the removal of S-cdA or 8-OH-dA from DNA that requires spontaneous glycosidic bond hydrolysis, and further support the proposed role of cPu in the neurodegeneration observed in xeroderma pigmentosum patients who lack NER. " 09/01/1992 - "In view of the difficulty of defining an XP group from clinical symptoms alone, we urge the term xeroderma pigmentosum variant be used only in the context of the laboratory studies of patients with XP that contain normal repair but deficient semiconservative replication of UV-damaged DNA." 11/01/1986 - "Fibroblasts from a patient with xeroderma pigmentosum complementation group D were treated with Simian virus 40 to establish a transformed cell line suitable for studies of DNA-mediated gene transfer. " 09/01/1978 - "Significance of repair of human DNA: evidence from studies of xeroderma pigmentosum."
3.	DNA AdductsIBA 09/01/1993 - "The results suggest that phenotypic cross-resistance of this cell line to UV is probably due to an improved excision repair of UV-DNA adducts which is defective in xeroderma pigmentosum group A cells. " 07/01/2015 - "In this exploratory study, we aimed to investigate whether polymorphisms in excision repair cross-complementing group 1 (ERCC1) and excision repair cross-complementing group 2/xeroderma pigmentosum group D (ERCC2/XPD) in the nucleotide excision repair (NER) pathways associated with DNA adducts in human lung tissue. " 01/01/2015 - "Xeroderma Pigmentosum Group A Suppresses Mutagenesis Caused by Clustered Oxidative DNA Adducts in the Human Genome." 02/02/2010 - "The xeroderma pigmentosum group C (XPC)-Rad23B complex is involved in the recognition of these bulky DNA adducts and initiates the global genomic nucleotide excision repair pathway (GG-NER). " 11/19/2002 - "DNA adducts were incorporated site-specifically into a SV40/BK virus origin-based shuttle vector and replicated in xeroderma pigmentosum complementation group A (XPA) cells. "
4.	RetinoidsIBA 02/01/2007 - "Retinoids are effective for the treatment of preneoplastic diseases including xeroderma pigmentosum and other dermatologic diseases such as photoaging. " 01/01/1991 - "Topical retinoids are already used for the treatment of actinic skin damage, and systemic retinoids are also used in certain groups of patients who have an increased risk of contracting skin cancers such as xeroderma pigmentosum." 01/01/2007 - "Systemic retinoids may influence the appearance of new tumors in patient populations at increased risk of developing NMSC such as xeroderma pigmentosum and organ transplant recipients, but their efficacy is hindered by their side effects." 11/01/1992 - "We studied chemoprevention of new skin cancers with oral retinoids in xeroderma pigmentosum patients who had multiple skin cancers. " 08/01/1990 - "We also reviewed the chemoprevention of skin cancers with retinoids, in patients with xeroderma pigmentosum."
5.	AcitretinFDA Link 06/01/2001 - "Acitretin was shown effective in preventing the development of new skin carcinomas in predisposed patients (Xeroderma pigmentosum, immunosupression). " 11/01/2003 - "The treatment of basal cell carcinomas in a patient with xeroderma pigmentosum with a combination of imiquimod 5% cream and oral acitretin." 06/01/2013 - "Isotretinoin is preferred in xeroderma pigmentosum and nevoid basal cell carcinoma syndrome, whereas acitretin is more used in transplant recipients, psoriasis and severe sun damage. " 09/01/2006 - "Systemic retinoids (isotretinoin, etretinate, and acitretin) have been shown to be effective chemotherapeutic agents in studies of patients with xeroderma pigmentosum, the nevoid basal cell carcinoma syndrome, and recipients of organ or bone marrow transplantation. "
6.	Codon (Codons)IBA 09/01/2010 - "This case-control study was conducted to determine the frequency of polymorphisms in two DNA repair enzyme genes, xeroderma pigmentosum complementation group D (XPD), codons 312 and 751, and x-ray cross-complementing group 1 (XRCC1), codons 194 and 399, in patients with AMD and in disease-free control subjects. " 10/01/2010 - "In this study, we focused on the polymorphism of xeroderma pigmentosum complementation group C (XPC) codon 939 (rs#2228001), which is involved in nucleotide excision repair. " 01/01/2009 - "In this study, we have focused on the polymorphisms of xeroderma pigmentosum complementation group D (XPD) codon 312 and 751 (namely Asp312Asn and Lys751Gln), involved in nucleotide excision repair. " 01/01/2007 - "In this study, we aimed to determine the frequency of polymorphisms in two DNA repair enzyme genes, Xeroderma pigmentosum complementation group D (XPD) codon 751 and X-ray cross-complementing group 1 (XRCC1) codon 399, in a sample of Turkish patients with POAG, and to evaluate their association with POAG development. " 10/01/2010 - "Additionally, this polymorphism multiplicatively interacted with the xeroderma pigmentosum complementation group D codon 751 polymorphism with respect to HCC risk (OR(interaction) = 1.71). "
7.	PlatinumIBA 10/01/2013 - "Our previous studies have demonstrated the involvement of xeroderma pigmentosum group A (XPA) codon23 and xeroderma pigmentosum group D (XPD) codon751 single-nucleotide polymorphisms (SNPs) in clinical response to platinum based chemotherapy in advanced NSCLC patients. " 05/01/2009 - "We hypothesize that genetic polymorphisms in DNA repair gene XPA (xeroderma pigmentosum group A) and XPG (xeroderma pigmentosum group G) (ERCC5, excision repair cross-complementation group 5), which result in inter-individual differences in DNA repair efficiency, may predict clinical response to platinum agents in advanced non-small cell lung cancer (NSCLC) patients. " 09/22/2015 - "The current study aims to test the hypothesis that eIF3a may affect the drug response and prognosis of ovarian cancer patients receiving platinum-based chemotherapy by regulating xeroderma pigmentosum complementation group C (XPC) and p27(Kip1). " 03/01/2012 - "The aim of this study was to investigate whe- ther X-ray repair cross-complementing group 3 (XRCC3) and xeroderma pigmentosum group D (XPD) single nucleotide polymorphism (SNP) affects the outcome of platinum- based chemotherapy in advanced non-small-cell lung cancer (NSCLC) patients. " 01/01/2015 - "We conducted a cohort study to investigate whether 3 potential single nucleotide polymorphisms (SNPs) in the xeroderma pigmentosum complementation group G (XPG) gene could predict the survival of advanced non-small cell lung cancer (NSCLC) patients treated with platinum-based doublet chemotherapy. "
8.	Bleomycin (Blenoxane)FDA LinkGeneric 11/01/1997 - "The aim of this study was to determine the frequency of certain biological abnormalities observed in HIV patients with Kaposi disease given bleomycin and who develop Raynaud's syndromes. " 11/01/1997 - "Raynaud's syndromes are frequent (12.6%) in HIV patients with Kaposi disease treated with bleomycin. " 11/01/1997 - "There were 121 patients with Kaposi disease and 73 of these were treated with bleomycin. " 11/01/1997 - "Raynaud's syndromes may be observed in HIV-infected patients, particularly those with Kaposi disease treated with bleomycin. " 11/01/1997 - "[Acrosyndromes induced by bleomycin in HIV 1 related Kaposi's disease. "
9.	4-Nitroquinoline-1-oxide (4 Nitroquinoline 1 oxide)IBA 07/01/1991 - "An improved method for the detection of differential survival between normal and xeroderma pigmentosum lymphoblastoid cell lines in culture with 4-nitroquinoline-1-oxide." 07/01/1991 - "The effects of the UV-mimetic chemical 4-nitroquinoline-1-oxide (4-NQO) upon cell lines heterozygous or homozygous for the recessive mutant xeroderma pigmentosum (XP) were investigated. " 08/01/1987 - "The data in this paper show that when the inhibition of growth is measured, xeroderma pigmentosum (XP) complementation groups A, G and D are very sensitive to 4-nitroquinoline-1-oxide (4NQO), whereas only XP groups G and D are very sensitive to 3-methyl-4NQO (3me4NQO). " 02/01/1983 - "The effect of 4-nitroquinoline-1-oxide (4NQO) upon 3 fibroblast cell lines derived from normal and xeroderma pigmentosum subjects have been compared. " 05/01/1980 - "Repair of DNA damage after exposure to 4-nitroquinoline-1-oxide in heterokaryons derived from xeroderma pigmentosum cells."
10.	EtretinateFDA Link 04/01/1996 - "Treatment of xeroderma pigmentosum variant with low-dose etretinate." 06/01/1993 - "Xeroderma pigmentosum variant: 5 years of tumour suppression by etretinate." 08/01/1990 - "[A case of xeroderma pigmentosum treated by oral etretinate]." 04/01/1990 - "We report a case of the variant form of xeroderma pigmentosum in whom tumour development was completely suppressed for 22 months by etretinate 25 mg daily." 04/01/1990 - "Xeroderma pigmentosum variant: response to etretinate."

Therapies and Procedures

1.	Drug Therapy (Chemotherapy) 01/01/2014 - "We investigated the correlation between the response to chemotherapy in patients and excision repair cross-complimenta-ry group 1 gene (ERCC1) and xeroderma pigmentosum complemen-tation group F gene (XPF) polymorphisms and the effect of these polymorphisms on the clinical outcome of gastric cancer. " 11/01/2005 - "[Topical and systemic chemotherapy with 5-fluouracil in facial carcinoma secondary to xeroderma pigmentosum]." 12/01/2013 - "Childhood orbital soft tissue sarcoma in xeroderma pigmentosum with good tolerance to chemotherapy and radiotherapy." 01/01/2014 - "We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementation group 1 (ERCC1) rs11615, xeroderma pigmentosum group D (XPD/ERCC2) rs13181, X-ray repair cross complementing group 1 (XRCC1) rs25487, XRCC3 rs1799794, and breast cancer susceptibility gene 1 (BRCA1) rs1799966 from the DNA repair pathway and multiple drug resistance 1 (MDR1/ABCB1) rs1045642 with response to chemotherapy and survival of non-small cell lung cancer (NSCLC) in a Chinese population. " 05/01/2000 - "The new synthetic, more potent and less calcemic analogs might find wide application in chemotherapy of premalignant and early malignant cutaneous tumors and could be especially useful for chemoprevention in the high-risk groups, e.g., xeroderma pigmentosum, organ transplant recipients, arsenical keratoses and others."
2.	Chemoprevention 11/01/1992 - "Chemoprevention of skin cancer in xeroderma pigmentosum." 05/01/2000 - "The new synthetic, more potent and less calcemic analogs might find wide application in chemotherapy of premalignant and early malignant cutaneous tumors and could be especially useful for chemoprevention in the high-risk groups, e.g., xeroderma pigmentosum, organ transplant recipients, arsenical keratoses and others." 05/01/1989 - "Although all patients experienced mucocutaneous toxic effects, and abnormalities in triglyceride levels, results of liver function tests, or skeletal findings occurred in some, high-dosage oral isotretinoin was effective in the chemoprophylaxis of skin cancers in patients with xeroderma pigmentosum." 06/23/1988 - "Although all patients experienced mucocutaneous toxic effects, and triglyceride, liver-function, or skeletal abnormalities developed in some, high-dose oral isotretinoin was effective in the chemoprophylaxis of skin cancers in patients with xeroderma pigmentosum." 12/01/1997 - "To assess the risk of vitamin D deficiency in a sunlight-deprived population, we studied eight ambulatory patients with xeroderma pigmentosum (XP) who practiced intensive sun protection during a chemoprevention study of oral isotretinoin. "
3.	Bone Marrow Transplantation (Transplantation, Bone Marrow) 12/01/2005 - "Two KS cases were associated with renal transplantation, two cases of malignant melanoma occurred within the area of giant hairy cell nevus, one melanoma patient previously had bone marrow transplantation due to Gricelli syndrome, one patient with BCC had xeroderma pigmentosum and the other BCC had got radiotherapy due to previous diagnosis of medulloblastoma. " 09/01/2006 - "Systemic retinoids (isotretinoin, etretinate, and acitretin) have been shown to be effective chemotherapeutic agents in studies of patients with xeroderma pigmentosum, the nevoid basal cell carcinoma syndrome, and recipients of organ or bone marrow transplantation. "
4.	Transplants (Transplant) 11/01/2011 - "[Iatrogenic Kaposi's disease in Morocco in a non-transplant context]." 10/01/2011 - "Facial resurfacing with split-thickness skin grafts in xeroderma pigmentosum variant." 11/01/2005 - "[Kaposi's disease in an organ transplant recipient: should one anticipate, stabilise or try to cure the disease?]." 07/01/2003 - "One of the most effective treatment methods of Xeroderma pigmentosum (XP) is full resurfacing of the exposed areas with skin grafts. " 10/01/2002 - "Is facial resurfacing with monobloc full-thickness skin graft a remedy in xeroderma pigmentosum?"
5.	Oral Administration 01/01/1993 - "In human beings, oral administration of retinoic acid after tumor resection was effective in inhibiting the appearance of new tumors on the skin of four patients with Xeroderma Pigmentosum, and was effective in preventing new primary tumor formations in patients treated for head and neck cancer. "