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Epidermolytic Palmoplantar Keratoderma

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Atlas of Genetic Diagnosis and Counseling

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Abstract

Epidermolytic palmoplantar keratoderma (EPPK), first described by Vörner in 1901 (Vomer (Vörner 1901)), may be the most common form of diffuse keratoderma and is characterized by keratosis restricted to the palms and soles. The disease is also known as keratosis palmaris et plantaris familiaris. The estimated incidence is at least 4.4 per 100,000 in Northern Ireland (Covello et al. 1998).

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References

  • Arin, M. J. (2009). The molecular basis of human keratin disorders. Human Genetics, 125, 355–373.

    Article  CAS  PubMed  Google Scholar 

  • Atherton, D. J., Sutton, C., & Jones, B. M. (1990). Mutilating palmoplantar keratoderma with periorificial keratotic plaques. British Journal of Dermatology, 122, 245–252.

    Article  CAS  PubMed  Google Scholar 

  • Chamcheu, J. C., Siddiqui, I. A., Syed, D. N., et al. (2011). Keratin gene mutations in disorders of human skin and its appendages. Archives of Biochemistry and Biophysics, 508, 123–137.

    Article  CAS  PubMed  Google Scholar 

  • Chen, X. L., Xu, C. M., Cai, S. R., et al. (2009). Prenatal diagnosis of epidermolytic palmoplantar keratoderma caused by c.T470C (p.M157T) of the keratin 9 gene in a Chinese kindred. Prenatal Diagnosis, 29, 922–923.

    Google Scholar 

  • Coleman, C. M., Munro, C. S., Smith, F. J., et al. (1999). Epidermolytic palmoplantar keratoderma due to a novel type of keratin mutation, a 3-bp insertion in the keratin 9 helix termination motif. British Journal of Dermatology, 140, 486–490.

    Article  CAS  PubMed  Google Scholar 

  • Corden, L. D., & McLean, W. H. I. (1996). Human keratin diseases: Hereditary fragility of specific epithelial tissues. Experimental Dermatology, 5, 297–307.

    Article  CAS  PubMed  Google Scholar 

  • Covello, S. P., Irvine, A. D., McKenna, K. E., et al. (1998). Mutations in keratin K9 in kindreds with epidermolytic palmoplantar keratoderma and epidemiology in Northern Ireland. The Journal of Investigative Dermatology, 111, 1207–1209.

    Article  CAS  PubMed  Google Scholar 

  • Da Rosa Santos, O. L. R., Amorim, J. H., & Voloch, K. (1997). The Olmsted syndrome. International Journal of Dermatology, 36, 356–373.

    Article  Google Scholar 

  • Fine, J. D., Bruckner-Tuderman, L., Eady, R. A., et al. (2014). Inherited epidermolysis bullosa: Updated recommendations on diagnosis and classification. Journal of American Academy of Dermatology, 70, 1–24.

    Article  Google Scholar 

  • Gutierrez, J. A., Hannoush, Z. C., Vargas, L. G., et al. (2013). A novel non-sense mutation in keratin 10 causes a familial case of recessive epidermolytic ichthyosis. Molecular Genetics & Genomic Medicine, 1, 108–112.

    Article  CAS  Google Scholar 

  • Hatsell, S. J., Eady, R. A., Wennerstrand, L., et al. (2001). Novel splice site mutation in keratin 1 underlies mild epidermolytic palmoplantar keratoderma in three kindreds. The Journal of Investigative Dermatology, 116, 606–609.

    Article  CAS  PubMed  Google Scholar 

  • He, X. H., Zhang, X. N., Mao, W., et al. (2004). A novel mutation of keratin 9 in a large Chinese family with epidermolytic palmoplantar keratoderma. British Journal of Dermatology, 150, 647–651.

    Article  CAS  PubMed  Google Scholar 

  • Ke, H.-P., Jiang, H.-L., Lv, Y.-S., et al. (2014). KRT9 gene mutation as a reliable indicator in the prenatal molecular diagnosis of epidermolytic palmoplantar keratoderma. Gene, 546, 124–128.

    Article  CAS  PubMed  Google Scholar 

  • Kingsbery, M. Y. (2014). Keratosis palmaris et Plantaris. Medscape Reference. Updated 23 July 2014. http://emedicine.medscape.com/article/1108406-overview

  • Knöbel, M., O’Toole, E. A., & Smith, F. J. D. (2015). Keratins and skin disease. Cell and Tissue Research, 360, 583–589.

    Article  PubMed  Google Scholar 

  • Lane, E. B., & McLean, W. H. I. (2004). Keratins and skin disorders. Journal of Pathology, 204, 355–366.

    Article  CAS  PubMed  Google Scholar 

  • Lee, R. A., Yassaee, M., Bowe, W. P., et al. (2008). Keratosis palmaris et plantaris. Medscape Reference. Retrieved 28 July 2008. Available at: http://emedicine.medscape.com/article/1108406-overview

  • Liang, Y. H., Liu, Q. X., Huang, L., et al. (2014). A recurrent p.M157R mutation of keratin 9 gene in a Chinese family with epidermolytic palmoplantar keratoderma and literature review. International Journal of Dermatology, 53, e367–e388.

    Article  Google Scholar 

  • Liu, W.-T., Ke, H.-P., Zhao, Y., et al. (2012). The most common mutation of KRT9, c.C487T (p.R163W), in epidermolytic palmoplantar keratoderma in two large Chinese pedigrees. The National Record, 295, 604–609.

    CAS  Google Scholar 

  • Lucker, G. P. H., & Steijlen, P. M. (1994). The Olmsted syndrome: Mutilating palmoplantar and periorificial keratoderma. Journal of the American Academy of Dermatology, 31, 508–509.

    Article  CAS  PubMed  Google Scholar 

  • Lucker, G. P., Van de Kerkhof, P. C., & Steijlen, P. M. (1994). The hereditary palmoplantar keratoses: An updated review and classification. British Journal of Dermatology, 131, 1–14.

    Article  CAS  PubMed  Google Scholar 

  • Navsaria, H. A., Swensson, O., Ratnavel, R. C., et al. (1995). Ultrastructural changes resulting from keratin-9 gene mutations in two families with epidermolytic palmoplantar keratoderma. The Journal of Investigative Dermatology, 104, 425–429.

    Article  CAS  PubMed  Google Scholar 

  • Oji, V., Tadini, G., Akiyama, M., et al. (2010). Revised nomenclature and classification of inherited ichthyoses: Results of the first ichthyosis consensus conference in Sorèze 2009. J American Academy of Dermatology, 63, 607–641.

    Article  Google Scholar 

  • Poulin, Y., Perry, H. O., & Muller, S. A. (1984). Olmsted syndrome – Congenital palmoplantar and periorificial keratoderma. Journal of the American Academy of Dermatology, 10, 600–610.

    Article  CAS  PubMed  Google Scholar 

  • Ratnavel, R. C., & Griffiths, W. A. (1997). The inherited palmoplantar keratodermas. British Journal of Dermatology, 137, 485–490.

    Article  CAS  PubMed  Google Scholar 

  • Reis, A., Kuster, W., Eckardt, R., et al. (1992). Mapping of a gene for epidermolytic palmoplantar keratoderma to the region of the acidic keratin gene cluster at 17q12-q21. Human Genetics, 90, 113–116.

    Article  CAS  PubMed  Google Scholar 

  • Reis, A., Hennies, H. C., Langbein, L., et al. (1994). Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK). Nature Genetics, 6, 174–179.

    Article  CAS  PubMed  Google Scholar 

  • Stevens, H. P., Kelsell, D. P., Bryant, S. P., et al. (1996). Linkage of an American pedigree with palmoplantar keratoderma and malignancy (palmoplantar ectodermal dysplasia type III) to 17q24. Literature survey and proposed updated classification of the keratodermas. Archives of Dermatology, 132, 640–651.

    Article  CAS  PubMed  Google Scholar 

  • Tao, J., Huang, C. Z., Yu, N., et al. (2008). Olmsted syndrome: A case report and review of literature. International Journal of Dermatology, 47, 432–437.

    Article  PubMed  Google Scholar 

  • Terron-Kwiatkowski, A., Paller, A. S., Compton, J., et al. (2002). Two cases of primarily palmoplantar keratoderma associated with novel mutations in keratin 1. The Journal of Investigative Dermatology, 119, 966–971.

    Article  CAS  PubMed  Google Scholar 

  • Terron-Kwiatkowski, A., van Steensel, M. A. M., van Geel, M., et al. (2006). Mutation S233L in the 1B domain of keratin 1 causes epidermolytic palmoplantar keratoderma with “tonotubular” keratin. The Journal of Investigative Dermatology, 126, 607–613.

    Article  CAS  PubMed  Google Scholar 

  • Vörner, H. (1901). Zur Kenntnis des Keratoma hereditarium palmare et plantare. Archiv für Dermatologie und Syphilis, 56, 3–31.

    Article  Google Scholar 

  • Wilson, N. J., O’Toole, E. A., Milstone, L. M., et al. (2014). The molecular genetic analysis of the expanding pachyonychia congenita case collection. British Journal of Dermatology, 171, 343–355.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

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Authors and Affiliations

  1. Medical Genetics, Shriners Hospitals for Children, Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, Shreveport, LA, USA

    Harold Chen

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  1. Harold Chen
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Chen, H. (2017). Epidermolytic Palmoplantar Keratoderma. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-2401-1_82

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  • DOI: https://doi.org/10.1007/978-1-4939-2401-1_82

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  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4939-2400-4

  • Online ISBN: 978-1-4939-2401-1

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