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Hypohidrotic Ectodermal Dysplasia

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Atlas of Genetic Diagnosis and Counseling

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Abstract

Hypohidrotic ectodermal dysplasia (HED) is a common form of ectodermal dysplasia characterized by a defect in the hair, in the teeth, and in mucosal and sweat glands. It is also known as anhidrotic ectodermal dysplasia. The incidence is estimated to be 1 in 10,000 to 1 in 100,000 male live births (Crawford et al. 1991).

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References

  • Aswegan, A. L., Josephson, K. D., Mowbray, R., et al. (1997). Autosomal dominant hypohidrotic ectodermal dysplasia in a large family. American Journal of Medical Genetics, 72, 462–467.

    Article  CAS  PubMed  Google Scholar 

  • Baala, L., Hadj Rabia, S., Zlogotora, J., et al. (1999). Both recessive and autosomal dominant forms of anhidrotic/hypohidrotic ectodermal dysplasia map to chromosome 2q11-q13. American Journal of Human Genetics, 64, 651–653.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Cambiaghi, S., Restano, L., Pääkkönen, K., et al. (2000). Clinical findings in mosaic carriers of hypohidrotic ectodermal dysplasia. Archives of Dermatology, 136, 217–224.

    Article  CAS  PubMed  Google Scholar 

  • Chassaing, N., Cluzeau, C., Bal, E., et al. (2010). Mutations in EDARADD account for a small proportion of hypohidrotic ectodermal dysplasia cases. British Journal of Dermatology, 162, 1044–1048.

    Article  CAS  PubMed  Google Scholar 

  • Clarke, A. (1987). Hypohidrotic ectodermal dysplasia. Journal of Medical Genetics, 24, 659–663.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Clarke, A., & Burn, J. (1991). Sweat testing to identify female carriers of X linked hypohidrotic ectodermal dysplasia. Journal of Medical Genetics, 28, 330–333.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Clarke, A., Phillips, D. I., Brown, R., et al. (1987). Clinical aspects of X-linked hypohidrotic ectodermal dysplasia. Archives of Disease in Childhood, 62, 989–996.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Cluzeau, C., Hadj-Rabia, S., Jambou, M., et al. (2011). Only four Genes (EDA1, EDAR, EDARADD, and WNT10A): account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. Human Mutation, 32, 70–77.

    Article  CAS  PubMed  Google Scholar 

  • Crawford, P. J. M., Alder, J. M., & Clarke, A. (1991). Clinical and radiographic dental findings in X linked hypohidrotic ectodermal dysplasia. Journal of Medical Genetics, 28, 181–185.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Deshmukh, S., & Prashanth, S. (2012). Ectodermal dysplasia: A genetic review. International Journal of Clinical Pediatric Dentistry, 5, 197–202.

    Article  PubMed  PubMed Central  Google Scholar 

  • Doffinger, R., Smahi, A., Bessia, C., et al. (2001). X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kB signaling. Nature Genetics, 27, 277–285.

    Article  CAS  PubMed  Google Scholar 

  • Ho, L., Williams, M. S., & Spritz, R. A. (1998). A gene for autosomal dominant hypohidrotic ectodermal dysplasia (EDA3) maps to chromosome 2q11-q13. American Journal of Human Genetics, 62, 1102–1106.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Monreal, A. W., Zonana, J., & Ferguson, B. (1998). Identification of a new spice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations. American Journal of Human Genetics, 63, 380–389.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Munoz, F., Lestringant, G., Sybert, V., et al. (1997). Definitive evidence for an autosomal recessive form of hypohidrotic ectodermal dysplasia clinically indistinguishable from the more common X-linked disorder. American Journal of Human Genetics, 61, 94–100.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Passarge, E., Nuzum, C. T., & Schubert, W. K. (1966). Anhidrotic ectodermal dysplasia as autosomal recessive trait in an inbred kindred. Humangenetik, 3, 181–185.

    CAS  PubMed  Google Scholar 

  • Pinheiro, M., & Freire-Maia, N. (1994). Ectodermal dysplasia: A clinical classification and a causal review. American Journal of Medical Genetics, 53, 153–162.

    Article  CAS  PubMed  Google Scholar 

  • Priolo, M., Silengo, M., Lerone, M., et al. (2000). Ectodermal dysplasias: not only “skin” deep. Clinical Genetics, 58, 415–430.

    Article  CAS  PubMed  Google Scholar 

  • Rossman, R. E., & Johnson, W. P., Jr. (1966). Anhidrotic ectodermal dysplasia; A surgical problem. American Journal of Medical Association, 195, 494–495.

    Article  CAS  Google Scholar 

  • Sepulveda, W., Sandoval, R., Carstens, E., et al. (2003). Hypohidrotic ectodermal dysplasia: Prenatal diagnosis by three-dimensional ultrasonography. Journal of Ultrasound in Medicine, 22, 731–735.

    PubMed  Google Scholar 

  • Srivastava, A. K., Montonen, O., Saarialho-Kere, U., et al. (1996). Fine mapping of the EDA gene: A translocation breakpoint is associated with a CpG island that is transcribed. American Journal of Human Genetics, 58, 126–132.

    CAS  PubMed  PubMed Central  Google Scholar 

  • Vasconcelos Carvalho, M., Romero Souto de Sousa, J., Paiva Correa de Melo, F., et al. (2013). Hypohidrotic and hidrotic ectodermal dysplasia: A report of two cases. Dermatology Online Journal, 19, 1–8.

    Google Scholar 

  • Wright, J. T., Grange, D. K., & Richter, M. K. (2014). Hypohidrotic ectodermal dysplasia. GeneReviews. Updated May 5, 2014. Available at http://www.ncbi.nlm.nih.gov/books’NBK1112/

  • Wünsche, S., Jüngert, J., Faschingbauer, F., et al. (2015). 2 Noninvasive prenatal diagnosis of hypohidrotic ectodermal dysplasia by Tooth Germ sonography. Ultraschall in der Medizin, 36, 381–385.

    PubMed  Google Scholar 

  • Zonana, J., et al. (1988). Recognition and reanalysis of a cell line from a manifesting female with X linked hypohidrotic ectodermal dysplasia and an X;autosome balanced translocation. Journal of Medical Genetics, 25, 383–386.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Zonana, J., Schinzel, A., Upadhyaya, M., et al. (1990). Prenatal diagnosis of X-linked hypohidrotic ectodermal dysplasia by linkage analysis. American Journal of Medical Genetics, 35, 132–135.

    Article  CAS  PubMed  Google Scholar 

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Authors and Affiliations

  1. Medical Genetics, Shriners Hospitals for Children, 1501 Kings Highway, Shreveport, LA, 71130, USA

    Harold Chen

  2. Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, 1501 Kings Highway, Shreveport, LA, 71130, USA

    Harold Chen

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  1. Harold Chen
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Correspondence to Harold Chen .

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Chen, H. (2016). Hypohidrotic Ectodermal Dysplasia. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6430-3_127-2

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  • DOI: https://doi.org/10.1007/978-1-4614-6430-3_127-2

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  • Publisher Name: Springer, New York, NY

  • Online ISBN: 978-1-4614-6430-3

  • eBook Packages: Springer Reference Biomedicine and Life SciencesReference Module Biomedical and Life Sciences

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