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Results for “Keratoderma, Palmoplantar, Diffuse”

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PubMed1998

Loss of heterozygosity in sporadic oesophageal tumors in the tylosis oesophageal cancer (TOC) gene region of chromosome 17q.

From the genotyping of UK and US tylotic families with a high risk of oesophageal cancer we have previously localized the tylosis-associated cancer susceptibility gene (TOC gene, tylosis oesophageal cancer gene) to a 1 cM region on the long arm of chromosome 17 (Kelsell et al., 1996). In the present study we investigated loss of heterozygosity (LOH) patterns of 35 sporadic squamous cell carcinomas of the oesophagus using six polymorphic microsatellite markers encompassing this locus. Twenty-four of the 35 cases (69%) revealed LOH at one or more loci. Deletion was most frequently observed with the marker D17S801 (64% LOH, informative cases), which shows significant linkage to the TOC locus. The LOH analysis in sporadic oesophageal cancer we report here is thus consistent with the hypothesis that the tylosis oesophageal cancer susceptibility gene is also involved in the pathogenesis of a proportion of sporadic squamous cell carcinomas of the oesophagus.

Carcinoma, Squamous Cell↗
PubMed2002

Characterization of a 500 kb region on 17q25 and the exclusion of candidate genes as the familial Tylosis Oesophageal Cancer (TOC) locus.

The locus for a syndrome of focal palmoplantar keratoderma (Tylosis) associated with squamous cell oesophageal cancer (TOC) has been mapped to chromosome 17q25, a region frequently deleted in sporadic squamous cell oesophageal tumours. Further haplotype analysis described here, based on revised maps of marker order, has reduced the TOC minimal region to a genetic interval of 2 cM limited by the microsatellite markers D17S785 and D17S751. Partial sequence data and complete physical maps estimate the actual size of this region to be only 0.5 Mb. This analysis allowed the exclusion of proposed candidate tumour suppressor genes including MLL septin-like fusion (MSF), survivin, and deleted in multiple human cancer (DMC1). Computer analysis of sequence data from the minimal region identified 13 candidate genes and the presence of 50-70 other 'gene fragments' as ESTs and/or predicted exons and genes. Ten of the characterized genes were assayed for mutations but no disease-specific alterations were identified in the coding and promoter sequences. This region of chromosome 17q25 is, therefore, relatively gene-rich, containing 13 known and possibly as many as 50 predicted genes. Further mutation analysis of these predicted genes, and others possibly residing in the region, is required in order to identify the elusive TOC locus.

Carcinoma, Squamous Cell↗
PubMed1999

The tylosis esophageal cancer (TOC) locus: more than just a familial cancer gene.

Tylosis (focal non-epidermolytic palmoplantar keratoderma; NEPPK) is associated with esophageal cancer in three families, two of which contain six or seven generations. The causative locus, the tylosis esophageal cancer (TOC) gene, has been localized to a small region on chromosome 17q25. Recent loss of heterozygosity (LOH) studies have indicated a role for the TOC gene in sporadic squamous cell esophageal cancer and Barrett's adenocarcinoma. We have now integrated genetic and physical mapping data from the TOC region, based on microsatellite markers and radiation hybrid, yeast (YAC), bacterial (BAC) and P1 artificial chromosomal (PAC) clones, and formed a partial minimal contig of one non-chimeric YAC (330 kb) and one PAC. Twenty-three candidate genes, including envoplakin (EVPL), were mapped against this contig, but only one was shown to be located within the minimal region. This physical map will allow further characterization of the region and identification of a gene implicated in both familial and sporadic squamous cell esophageal carcinoma and Barrett's adenocarcinoma.

Barrett Esophagus↗
PubMed2003

An unusual case of palmoplantar keratoderma.

A 55-year-old woman with palmoplantar keratoderma presented an associated hyperhidrosis with distinct odour and maceration. She had had the lesions for about 20 years and this seemed to be an isolated case in her family. This case appeared very unusual because there were no signs of acanthokeratolysis in the biopsies. Two months of treatment with acitretin (Neotigason; 25 mg daily), produced a spectacular result: clearance of all the lesions on both hands and a strong diminution of the lesions on the soles. The Unna-Thost variant of palmoplantar keratoderma usually appears in the first few months of life, and it rarely appears in the third decade. The condition is inherited as an autosomal dominant with high penetrance and expressivity. Our subject appeared to be an exception to these two facts.

Acitretin↗
PubMed2000

Human elastase 1: evidence for expression in the skin and the identification of a frequent frameshift polymorphism.

Human pancreatic elastase 1 is a serine protease which maps to the chromosomal region 12q13 close to a locus for an autosomal dominant skin disease, diffuse nonepidermolytic palmoplantar keratoderma, and was investigated as a possible candidate gene for this disorder. Expression of two elastase inhibitors, elafin and SLPI, has been related to several hyperproliferative skin conditions. elastase 1 is functionally silent in the human pancreas but elastase 1 expression at the mRNA level was detected in human cultured primary keratinocytes. Antibody staining localized the protein to the basal cell layer of the human epidermis at a number of sites including the palmoplanta. Sequencing of genomic DNA from individuals with/without the keratoderma revealed a sequence variant, which would result in a premature truncation of the protein. This sequence variant, however, did not segregate with the skin disease and, indeed, was found to occur at a relatively high frequency in the population. Individuals homozygous for the variant do not have any obvious skin abnormalities. Based on the analysis of the secondary structure of the translated putative protein, the truncation is unlikely to result in knock-out of the elastase, but may cause destabilization of the enzyme-inhibitor complex.

Amino Acid Sequence↗
PubMed2006

Down-regulation of the cytoglobin gene, located on 17q25, in tylosis with oesophageal cancer (TOC): evidence for trans-allele repression.

Tylosis (focal non-epidermolytic palmoplantar keratoderma) is an autosomal dominant skin disorder that is associated with the early onset of squamous cell oesophageal cancer (SCOC) in three families. Our previous linkage and haplotype analyses have mapped the tylosis with oesophageal cancer (TOC) locus to a 42.5 kb region on chromosome 17q25 that has also been implicated in the aetiology of sporadically occurring SCOC from a number of different geographical populations. Oesophageal cancer is one of the 10 leading causes of cancer mortality worldwide. No inherited disease-causing mutations have been identified in the genes located in the 42.5 kb minimal region. We now show that cytoglobin gene expression in oesophageal biopsies from tylotic patients is dramatically reduced by approximately 70% compared with normal oesophagus. Furthermore, both alleles are equally repressed. Given the autosomal dominant nature of the disease, these results exclude haploinsufficiency as a mechanism of the disease and instead suggest a novel trans-allele interaction. We also show that the promoter is hypermethylated in sporadic oesophageal cancer samples: this may constitute the 'second hit' of a gene previously implicated in this disease by allelic imbalance studies.

Allelic Imbalance↗
PubMed1994

A mutation in the V1 end domain of keratin 1 in non-epidermolytic palmar-plantar keratoderma.

Mutations in keratin 9 have been found in families with an epidermolytic form of palmar-plantar keratoderma (PPK). In another form of PPK (Unna-Thost type), epidermolysis is not observed histologically. We studied a pedigree with this non-epidermolytic form of PPK. By gene linkage analysis, the type I keratin locus could be excluded but complete linkage with the type II keratin region was found. Sequence analysis identified a single base change in the amino-terminal V1 variable subdomain of keratin 1, which caused a lysine to isoleucine substitution. This non-conservative mutation completely cosegregated with the disease and was not observed in 50 unrelated unaffected individuals. An examination of keratin amino-terminal sequences revealed a previously unreported 22-residue window in the V1 subdomain that is conserved among most type II keratins. The altered lysine is an invariant residue in this conserved sequence. Previously described keratin mutations affect the central regions important for filament assembly and stability, and cause diseases characterized by cellular degeneration or disruption. This is the first disease mutation in a keratin chain variable end region. The observation that it is not associated with epidermolysis supports the concept that the amino-terminal domain of keratins may be involved in supramolecular interactions of keratin filaments rather than stability. Therefore, hyperkeratosis associated with this mutation may be due to perturbations in the interactions of the keratin end domain with other cellular components.

Adult↗
PubMed1990

Unusual cutaneous manifestations of anhidrotic ectodermal dysplasia--a case report.

Congenital ectodermal dysplasia is a group of familial disorders that affect tissues and organs of ectodermal origin to varying degrees. Our patient with classical X-linked anhidrotic ectodermal dysplasia (AED) showed unusual skin manifestations including cafe-au-lait spots on the face, neck, buttock, and lumbo-sacral region; depigmentation of mucous membrane of the lower lip, buccal cavity, and left arm; absence of tragii; plantar keratoderma; and kyphosis of lower cervical and upper thoracic spines which have not been previously reported in the world literature.

Adult↗
PubMed1991

Mal de Meleda-like palmoplantar keratoderma.

A 38-year-old Japanese man was seen for severe palmoplantar keratoderma, extending to the dorsal aspects with red rims. He had had spontaneous amputations of the toes and surgical amputation of the right lower leg because of squamous cell carcinoma of the right sole. The clinical symptoms suggested those of mal de Meleda, except for the absence of consanguinity and of granular layers in the epidermis. The keratoderma improved with oral etretinate treatment.

Adult↗
PubMed1991

Erythroderma, palmoplantar keratoderma and profound failure to thrive in an infant.

The case is reported of a female infant, who at the age of 3 months developed severe erythroderma, marked hyperkeratosis of the palms and soles and subsequently extreme growth failure and intermittent diarrhoea. Her course was complicated by life-threatening infections but detailed investigation revealed no recognized underlying metabolic or immune abnormality.

Dermatitis, Exfoliative↗