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MeSH Review: 

Keratoderma, Palmoplantar, Diffuse

 
 
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Disease relevance of Keratoderma, Palmoplantar, Diffuse

  • Chromosome 17q25 in general and the 4-cM HNA region in particular are also implicated in the pathogenesis of a number of tumors (tylosis with esophageal cancer, sporadic breast and ovarian tumors) and harbor a psoriasis susceptibility locus [1].
  • Further support comes from the association between dermatophytosis in man and inherited conditions such as atopy, chronic mucocutaneous candidosis and tylosis as well as experimental data showing that susceptibility to dermatophytosis in mice varies in different inbred strains [2].
 

High impact information on Keratoderma, Palmoplantar, Diffuse

  • Down-regulation of the cytoglobin gene, located on 17q25, in tylosis with oesophageal cancer (TOC): evidence for trans-allele repression [3].
  • Chromosomal localisation of the human envoplakin gene (EVPL) to the region of the tylosis oesophageal cancer gene (TOCG) on 17q25 [4].
  • Unna-Thost syndrome topped the list with 38.7% of cases and its prevalence 1:6000 (approx.), followed by Greither's disease (22.9%) and others-Vohwinkel (3 cases), idiopathic punctate (2 cases), ichthyosis vulgaris associated PPK (2 cases) etc [5].
  • It is also distinct from other previously described cases of autosomal dominant forms of palmoplantar hyperkeratosis such as the Unna-Thost syndrome in that it presents short stature, facial dysmorphism, and hypodontia [6].
 

Biological context of Keratoderma, Palmoplantar, Diffuse

  • 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 [3].
  • Linkage and haplotype analyses have previously mapped the tylosis with oesophageal cancer ( TOC) locus to a 500-kb region on chromosome 17q25 that has also been implicated in sporadically occurring squamous cell oesophageal cancer [7].
  • Earlier loss of heterozygosity (or allelic imbalance) studies have implicated regions on chromosomes 3p, 5q, 9p, 13q, 17p, 17q, and 18q in the development of sporadic oesophageal cancer and recent data have linked the familial tylosis with oesophageal cancer (TOC) gene-containing region on chromosome 17q25 with this cancer [8].
 

Gene context of Keratoderma, Palmoplantar, Diffuse

  • Characterization of a 500 kb region on 17q25 and the exclusion of candidate genes as the familial Tylosis Oesophageal Cancer (TOC) locus [9].

References

  1. A sequence-ready BAC/PAC contig and partial transcript map of approximately 1.5 Mb in human chromosome 17q25 comprising multiple disease genes. Kuhlenbäumer, G., Schirmacher, A., Meuleman, J., Tissir, F., Del-Favero, J., Stögbauer, F., Young, P., Ringelstein, B., Van Broeckhoven, C., Timmerman, V. Genomics (1999) [Pubmed]
  2. Genetic susceptibility to dermatophytosis. Hay, R.J. Eur. J. Epidemiol. (1992) [Pubmed]
  3. Down-regulation of the cytoglobin gene, located on 17q25, in tylosis with oesophageal cancer (TOC): evidence for trans-allele repression. McRonald, F.E., Liloglou, T., Xinarianos, G., Hill, L., Rowbottom, L., Langan, J.E., Ellis, A., Shaw, J.M., Field, J.K., Risk, J.M. Hum. Mol. Genet. (2006) [Pubmed]
  4. Chromosomal localisation of the human envoplakin gene (EVPL) to the region of the tylosis oesophageal cancer gene (TOCG) on 17q25. Ruhrberg, C., Williamson, J.A., Sheer, D., Watt, F.M. Genomics (1996) [Pubmed]
  5. Hereditary palmoplantar keratodermas in South India. Gulati, S., Thappa, D.M., Garg, B.R. J. Dermatol. (1997) [Pubmed]
  6. Palmoplantar hyperkeratosis with short stature, facial dysmorphism, and hypodontia--a new syndrome?: case report. Seow, W.K. Pediatric dentistry. (1989) [Pubmed]
  7. Novel microsatellite markers and single nucleotide polymorphisms refine the tylosis with oesophageal cancer (TOC) minimal region on 17q25 to 42.5 kb: sequencing does not identify the causative gene. Langan, J.E., Cole, C.G., Huckle, E.J., Byrne, S., McRonald, F.E., Rowbottom, L., Ellis, A., Shaw, J.M., Leigh, I.M., Kelsell, D.P., Dunham, I., Field, J.K., Risk, J.M. Hum. Genet. (2004) [Pubmed]
  8. An investigation of the tylosis with oesophageal cancer (TOC) locus in Iranian patients with oesophageal squamous cell carcinoma. Shahabi, M., Noori Daloii, M.R., Langan, J.E., Rowbottom, L., Jahanzad, E., Khoshbin, E., Taghikhani, M., Field, J.K., Risk, J.M. Int. J. Oncol. (2004) [Pubmed]
  9. Characterization of a 500 kb region on 17q25 and the exclusion of candidate genes as the familial Tylosis Oesophageal Cancer (TOC) locus. Risk, J.M., Evans, K.E., Jones, J., Langan, J.E., Rowbottom, L., McRonald, F.E., Mills, H.S., Ellis, A., Shaw, J.M., Leigh, I.M., Kelsell, D.P., Field, J.K. Oncogene (2002) [Pubmed]
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