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Query: UMLS:C0043346 (xeroderma pigmentosum)
 2,924 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In 31 families of xeroderma pigmentosum (XP) patients, significantly more blood relatives than spouse controls had had nonmelanoma skin cancer. These family data support the hypothesis that heterozygosity for XP genes may predispose persons to skin cancer, particularly in association with substantial exposure to sunlight.
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PMID:Cancer in families with xeroderma pigmentosum. 28 13

Quantitative frequencies of clinical abnormalities in xeroderma pigmentosum were estimated by abstracting published descriptions of 830 patients in 297 articles obtained from a survey of the medical literature from 1874 to 1982. The median patient age was 12 years with nearly equal numbers of male and female patients. Cutaneous symptoms (sun sensitivity or freckling) had a median age of onset of between 1 and 2 years. Forty-five percent of the patients described had basal cell carcinoma or squamous cell carcinoma of the skin. The median age of first nonmelanoma skin cancer among patients with xeroderma pigmentosum was 8 years, more than 50 years less than that among patients with skin cancer in the United States. Melanomas were reported in 5% of patients. Ninety-seven percent of the reported basal and squamous cell carcinomas and 65% of the melanomas in patients with xeroderma pigmentosum occurred on the face, head, or neck. Seventy percent probability of survival was attained at age 40 years, a 28-year reduction in comparison with the US general population. Ocular abnormalities were reported in 40% of the patients described and were restricted to tissues exposed to ultraviolet radiation (lid, conjunctiva, and cornea) and included ectropion, corneal opacity leading to blindness, and neoplasms. Neurologic abnormalities were found in 18% of the cases reported, consisting of progressive mental deterioration, hyporeflexia or areflexia, and progressive deafness in some patients in association with dwarfism and immature sexual development. There was scant information concerning the efficacy of any therapeutic regimen.
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PMID:Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 830 published cases. 354 87

The development of contact allergy in sun-exposed skin is markedly impaired in patients with xeroderma pigmentosum as compared to the responses in healthy control subjects. The degree of this immunological impairment is directly related to the severity of the cutaneous disease. These findings raise the possibility that sunlight-induced alterations of immune function may be involved in the marked susceptibility of these patients to the development of nonmelanoma skin cancer.
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PMID:Impaired immune function in patients with xeroderma pigmentosum. 401 59

In the study of international childhood cancer incidence coordinated by the International Agency for Research on Cancer, carcinomas were generally rare, with an annual incidence for most sites nearly always under 1/1 million. Liver carcinoma was most common in parts of East Asia, Oceania, and Africa, where it is also common among adults and hepatitis B infection is widespread. Adrenocortical carcinoma had an incidence in Sao Paulo, Brazil, of 1.5/1 million, more than three times the rate in most other registries, indicating the presence of either a specific environmental risk factor acting before or around the time of birth or a concentration of genetically susceptible persons. Thyroid carcinoma seldom had a recorded incidence of more than 1/1 million, and variations in recorded rates may reflect differences in frequency of diagnosis rather than variations in risk. In East Asian populations, who have the highest incidence of nasopharyngeal carcinoma among adults, the childhood incidence of this cancer was moderately elevated. By far the highest incidence in children was found in North Africa, a region of intermediate risk for adults. In the United States the incidence among Black children was nine times that among Whites. Genetic and environmental factors may both be involved in the striking ethnic and geographical distribution. Oral carcinoma in childhood had a high relative frequency in Bangladesh. In the United States, the incidence among Black children was three times that among Whites. Skin carcinoma had an exceptionally high frequency in Tunisia, associated with the unusually high prevalence of xeroderma pigmentosum.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:International variations in the incidence of childhood carcinomas. 806 78

The nonmelanoma skin cancers (NMSC), including basal-cell and squamous-cell carcinoma, are the most common type of cancer in white populations. Its incidence has increased has increased worldwide over the last few decades. Mortality from NMSC is low, but the estimated recurrence rate of about 50% at five years and the local invasiveness involve high medical costs and make NMSC a public health concern. Epidemiologic evidence relevant to the effects of UV radiation on the risk of skin cancer comes from both descriptive and analytic studies. More recently, the collaboration between molecular biology and epidemiology has contributed to assess the potential synergism between environmental and genetic factors, such as the capacity of repairing the UV-induced DNA damage, in the etiology of nonmelanoma skin cancer, as by the xeroderma pigmentosum model.
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PMID:Epidemiology of nonmelanoma skin cancer: a review. 880 84

In advanced skin carcinomas of the head and neck region, the tumor may be unresectable or curative resection or radiation may either fail or produce poor functional and cosmetic results. The goal of this study was to test the ability of preoperative chemotherapy to decrease the extent of needed resection and tumor response. Five patients, three with squamous cell carcinoma and two with basal cell carcinoma, were treated before surgery with three cycles of cisplatin 20 mg/m2 daily for 4 days and bleomycin 20 mg/day for 4 days by continuous infusion every 3 weeks. All patients had advanced cancer in the head and neck region, one had unresectable tumor, two had xeroderma pigmentosum, and one was a 13-year-old child. The history of prior treatments was as follows: radiation therapy (n = 3), systemic chemotherapy (n = 1), surgery (n = 1), and no treatment (n = 1). One patient had complete clinical but not pathologic response, three had partial response, and one had progressive disease. The extent of resection after chemotherapy was dramatically reduced in the patient with a complete response and minimally changed in the patients with partials responses and progressive disease. All patients who underwent surgery became tumor free. Preventable toxicity was symptomatic hypomagnesemia in one patient, reversible elevation of creatinine in one patient, and mild nausea and vomiting in three patients. With this report, the total number of patients with nonmelanoma skin cancer who were treated with cisplatin is 68, and their overall response is 80%. Only 16 reported patients were treated with preoperative chemotherapy, and study of this treatment approach to advanced skin cancer should be pursued.
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PMID:Preoperative treatment of advanced skin carcinoma with cisplatin and bleomycin. 1002 76

Exposition of the skin with solar ultraviolet radiation (UV) is the main cause of skin cancer development. The consistently increasing incidences of melanocytic and nonmelanocytic skin tumors are believed to be at least in part associated with recreational sun exposure. Epidemiological data indicate that excessive or cumulative sunlight exposition takes place years and decades before the resulting malignancies arise. The most important defense mechanisms that protect human skin against UV radiation involve melanin synthesis and active repair mechanisms. DNA is the major target of direct or indirect UV-induced cellular damage. Low pigmentation capacity in white Caucasians and rare congenital defects in DNA repair are mainly responsible for protection failures. The important function of nucleotide excision DNA repair (NER) to protect against skin cancer becomes obvious by the rare genetic disease xeroderma pigmentosum, in which diverse NER genes are mutated. In animal models, it has been demonstrated that UVB is more effective to induce skin cancer than UVA. UV-induced DNA photoproducts are able to cause specific mutations (UV-signature) in susceptible genes for squamous cell carcinoma (SCC) and basal cell carcinoma (BCC). In SCC development, UV-signature mutations in the p513 tumor suppressor gene are the most common event, as precancerous lesions reveal approximately 80% and SCCs > 90% UV-specific p53 mutations. Mutations in Hedgehog pathway related genes, especially PTCH1, are well known to represent the most significant pathogenic event in BCC. However, specific UV-induced mutations can be found only in approximately 50% of sporadic BCCs. Thus, cumulative UVB radiation can not be considered to be the single etiologic risk factor for BCC development. During the last decades, experimental animal models, including genetically engineered mice, the Xiphophorus hybrid fish, the south american oppossum and human skin xenografts, have further elucidated the important role of the DNA repair system in the multi-step process of UV-induced melanomagenesis. An increasing body of evidence now indicates that nucleotide excision repair is not the only DNA repair pathway that is involved in UV-induced tumorigenesis of melanoma and nonmelanoma skin cancer. An interesting new perspective in DNA damage and repair research lies in the participation of mammalian mismatch repair (MMR) in UV damage correction. As MMR enzyme hMSH2 displays a p53 target gene, is induced by UVB radiation and is involved in NER pathways, studies have now been initiated to elucidate the physiological and pathophysiological role of MMR in malignant melanoma and nonmelanoma skin cancer development.
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PMID:UV damage and DNA repair in malignant melanoma and nonmelanoma skin cancer. 1834 55

Basal cell carcinoma (BCC) is the most common nonmelanoma skin cancer in humans, and is the most common malignant neoplasm among adults in the US. The peak incidence occurs in the seventh decade of life. Childhood onset of BCC is rare and usually associated with genetic disorders such as basal cell nevus syndrome, Bazex syndrome, albinism, and xeroderma pigmentosum or due to radiation therapy. Idiopathic childhood onset is less common. A girl with idiopathic onset of BCC who was treated with Mohs micrographic surgery is reported. A computerized review of the literature was performed. A total of 108 children including this patient were reported with idiopathic de novo BCC. Most of the tumors were nodular and located on the head, the same as in adults. Basal cell carcinoma in children is probably the result of genetic background and intense ultraviolet radiation exposure. The preferred treatment is excision with the Mohs micrographic technique.
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PMID:Idiopathic basal cell carcinoma in children. 1850 43

Xeroderma pigmentosum (XP) is a heterogenous group of genetic diseases in which basal cell carcinoma (BCC) is the most common nonmelanoma skin cancer (NMSC) followed by squamous cell carcinoma (SCC). The aim of this study was to investigate the expression of matrix metalloproteinase (MMP)-13 and Ki-67 in SCC and BCC from patients with and without XP to elucidate their roles in the pathogenesis of these highly aggressive tumors in patients with XP. Immunolabeling using MMP-13 and Ki-67 antibodies was performed on tissue sections derived from skin biopsies of SCC and BCC of 15 patients with XP and 40 non-XP patients. There was no significant difference between XP and non-XP patients as regards MMP-13 expression by epithelial and stromal cells of SCC or BCC. Ki-67 expression in SCC and BCC of patients with XP was significantly higher than in non-XP patients. We concluded that the higher expression of Ki-67 in NMSC of patients with XP than of non-XP patients may reflect the growth and invasive capacity of these tumors in patients with XP. MMP-13 is expressed by tumor epithelial cells, stromal and inflammatory cells of NMSC of both XP and non-XP patients.
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PMID:Expression of matrix metalloproteinase-13 and Ki-67 in nonmelanoma skin cancer in xeroderma pigmentosum and non-xeroderma pigmentosum. 2272 66

Cutaneous basal and squamous cell carcinomas are among the most frequent malignancies in the white population, with the annual incidence estimates ranging from 1 million to 3.5 million cases in the United States. These tumors can occur either sporadically or in the context of hereditary genodermatoses with cancer predisposition, such as basal cell nevus syndrome, xeroderma pigmentosum, epidermolysis bullosa, or oculocutaneous albinism. Different genes and signaling pathways have been shown to play a central role in the development and growth of these tumors. This article overviews the clinical features, diagnostic criteria, and the most recent data on genetic routes of the major hereditary syndromes predisposed to the development of nonmelanoma skin cancer.
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PMID:Hereditary nonmelanoma skin cancer. 2317 90


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