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

A genetic linkage map of human chromosome 9q, spanning a sex-equal distance of 125 cM, has been developed by genotyping 26 loci in the Venezuelan Reference Pedigree. The loci include 12 anonymous microsatellite markers reported by Kwiatkowski et al. (1992), several classical systems previously assigned to chromosome 9q, and polymorphisms for the genes tenacin (HXB), gelsolin (GSN), adenylate kinase 1 (AK1), arginosuccinate synthetase (ASS), ABL oncogene (ABL1), ABO blood group (ABO), and dopamine beta-hydroxylase (DBH). Only a marginally significant sex difference is found along the entire length of the map and results from one interval, between D9S58 and D9S59, that displays an excess of female recombination. A comparison of the genetic map to the existing physical data suggests that there is increased recombination in the 9q34 region with a recombination event occurring every 125-400 kb. This map should be useful in further characterizing the relationship between physical distance and genetic distance, as well as for genetic linkage studies of diseases that map to chromosome 9q, including multiple self-healing squamous epithelioma (MSSE), Gorlin syndrome (NBCCS), xeroderma pigmentosum (XPA), nail-patella syndrome (NPS1), torsion dystonia (DYT1), and tuberous sclerosis (TSC1).
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PMID:A genetic linkage map of human chromosome 9q. 142 99

This article presents a detailed discussion of six genetic disorders with major cutaneous manifestations that might commonly be seen by the dermatologist or pediatrician. These include neurofibromatosis, tuberous sclerosis, xeroderma pigmentosum, incontinentia pigmenti, incontinentia pigmenti achromians, and Down's syndrome. The appearance of each disease at birth is described, and all manifestations of each entity are discussed in detail. Disorders with different inheritance patterns were chosen so that important genetic principles could be elucidated. The article concludes with a general discussion of genetic counseling, which draws upon the six genetic diseases for specific examples of important concepts.
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PMID:The genodermatoses and their significance in pediatric dermatology. 294 Dec 1

The assumption of an irreparable damage of the fetus can result from prenatal examination or from the known mode of inheritance of a genodermatosis. Xeroderma pigmentosum, sex-linked ichthyosis vulgaris and - provided an appropriate test wil be developed - Fabry's disease are absolute indications for interruption after prenatal examination. Neurofibromatosis, Gorlin's syndrome, systematized elastorrhexis and Mal de Meleda are relative indications when the genodermatosis is feared to deteriorate the mother's health. Bourneville's disease, neurofibromatosis, Gorlin's syndrome, the dominant forms of systematized elastorrhexis and Mal de Meleda are relative indications as to the risk to give birth to a sick child.
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PMID:[Genodermatoses as an indication for the interruption of pregnancy]. 739 28

This article describes some of the genodermatoses encountered in the black populations in Africa, starting with ainhum, which appears to be genetically determined. Palmoplantar keratodermas are common in Africa but are difficult to classify and their hereditary nature is not always recognized. Of the ichthyoses, the lamellar type is commonest, with the so-called bathing-suit distribution apparently unique to Africans. Albinism and xeroderma pigmentosum are important causes of cutaneous malignancy in the tropics. Neurofibromatosis and tuberous sclerosis are relatively common, whereas hypermelanosis of Ito is rare but easy to recognize in dark skin.
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PMID:Genodermatoses. 780 8

A number of interesting syndromes have been described in which skin tumors are markers of heritable disorders. In Cowden's disease, Muir-Torre's syndrome, and Gardner's syndrome, benign skin tumors accompany and sometimes precede the development of internal visceral malignancy. The association of skin cancers with other abnormalities is found in nevoid basal cell carcinoma syndrome, Bazex syndrome, Rombo syndrome, xeroderma pigmentosum, dysplastic nevus syndrome, and epidermodysplasia verruciformis. Other genetic syndromes in which benign skin tumors herald the existence of systemic diseases include neurofibromatosis, tuberous sclerosis, Haber's syndrome, and Buschke-Ollendorff syndrome. Diagnosis of one of these syndromes may be ascertained by taking a thorough family history. Recognition of the skin tumor may trigger the proper questions regarding family medical history. Diagnosis hinges upon the physician having a high enough index of suspicion to link the appearance of the skin lesions to the diverse manifestations accompanying these disorders. Recognition will also set the stage for appropriate genetic counseling.
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PMID:Familial syndromes with skin tumor markers. 794 88

The concept of cutaneous mosaicism has now been proven by numerous studies. In this way, the idea that all nevi represent mosaics has so far been confirmed. We can distinguish five different patterns of mosaicism in human skin in the form of lines of Blaschko, checkerboard pattern, phylloid pattern, patchy pattern without midline separation, and lateralization. Two different etiological categories are epigenetic and genomic mosaicism. According to present knowledge all epigenetic mosaics are caused by the activity of retrotransposons. In addition to the well-known examples of functional X-chrosomosome mosaicism, the concept of autosomal functional mosaicism, as observed in mice and dogs, has recently been established. Most likely, this mechanism may also explain the exceptional familial occurrence of pigmentary mosaicism in man. Phylloid hypomelanosis and speckled lentiginous nevus syndrome are recently described phenotypes that can be added to the list of lethal mutations surviving by mosaicism. The concept of type 2 segmental manifestation of autosomal dominant skin diseases has recently been confrirmed at the molecular level in a case of Hailey-Hailey disease. The concept of didymosis may explain why two different nevi can occur in spatial and temporal proximity, e.g., cutis tricolor or phacomatosis pigmentovascularis. The mechanism of paradominant inheritance may explain why some nevi that usually occur sporadically may affect, by way of exception, several members of a family. Examples are sebaceous nevus and Becker nevus. In autosomal recessive skin disorders, an event of loss of homozygosity may occur at an early developmental stage, giving rise to healthy skin areas arranged in a nevoid distribution. For example, when dermatologists examine a patient with xeroderma pigmentosum they should pay particular attention to such areas of revertant mosaicism.
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PMID:[Patterns on the skin. New aspects of their embryologic and genetic causes]. 1535 66

In this article hereditary genodermatoses with cancer predisposition are reviewed, including nevoid basal cell carcinoma syndrome, neurofibromatosis types 1 and 2, tuberous sclerosis complex, xeroderma pigmentosum, and dyskeratosis congenita. Hereditary melanoma is also included, though it differs from the others in several respects. The underlying genetic aberrations causing these syndromes are largely known, allowing novel treatments to be developed for some of these disorders. Early recognition and diagnosis allows for close follow-up and surveillance for associated malignancies.
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PMID:Hereditary genodermatoses with cancer predisposition. 2081 79

We are presenting a case associated with papillary thyroid carcinoma, renal cell carcinoma, invasive mammary carcinoma, chondrosarcoma, benign ganglioneuroma, and numerous colon adenomas. The patient had a family history of colon cancer, kidney and bladder cancers, lung cancer, thyroid cancer, leukemia, and throat and mouth cancers. She was diagnosed with colonic villous adenoma at the age of 41 followed by thyroid, renal, and breast cancers and chondrosarcoma at the ages of 48, 64, 71, and 74, respectively. Additionally, we included a table with the most common familial cancer syndromes with one or more benign or malignant tumors diagnosed in our case, namely, FAP, HNPCC, Cowden, Peutz-Jeghers, renal cancer, tuberous sclerosis, VHL, breast/other, breast/ovarian, Carney, Werner's, Bloom, Li-Fraumeni, xeroderma pigmentosum, ataxia-telangiectasia, osteochondromatosis, retinoblastoma, and MEN2A.
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PMID:Thyroid, Renal, and Breast Carcinomas, Chondrosarcoma, Colon Adenomas, and Ganglioneuroma: A New Cancer Syndrome, FAP, or Just Coincidence. 2708 12

The etiology of cancer is multifactorial. Various factors, including physical carcinogens, chemicals and viral carcinogens affect patients with known predisposing factors who subsequently develop malignancies. Here is a retrospective study of 18 patients who developed rare malignancies in clinical situations like xeroderma pigmentosum, tuberous sclerosis, neurofibromatosis, hereditary multiple exostosis, second malignancies due to radiotherapy and chronic irritation. The predisposing factors like chronic infection in leprosy, filariasis, poverty and ignorance leading to the chronicity of the lesion, lack of available health care facilities and socio-cultural background, i.e. consanguinity marriage in some community are responsible for the development of these rare malignancies. They were treated at A.H Regional Cancer Centre, Cuttack, Odisha, which is located at Eastern part of India for various malignancies, between January 1989 and January 2008. Malignancies that developed in patients with the above predisposing factors are being reported here due to their rarity and to highlight the impact of socio cultural background in developing these malignancies. Patients with above clinical situations should be kept under close observation for early detection of malignancy so their chances of survival can be improved. In addition, those oncogenic stimuli that initiated or propagated the malignancies, due to socio-economic factors, should be addressed promptly to prevent their eventual development.
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PMID:Rare Malignancies in Eastern India, Socio-Economic Impact. 2744 Oct 70