Pure hair-nail type ectodermal dysplasia explained

Pure hair-nail type ectodermal dysplasia
Synonyms:	Hair-nail ectodermal dysplasia

Pure hair-nail type ectodermal dysplasia is a genetic mutation in the "hair matrix and cuticle keratin KRTHB5 gene" that causes ectodermal dysplasia of hair and nail type.^[1] Manifestations of this disorder include onychodystrophy and severe hypotrichosis. It represents as an autosomal dominant trait.^[2]

See also

• List of cutaneous conditions

Notes and References

1. 10.1136/jmg.2005.033381 . 16525032 . 2563238 . A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type . Journal of Medical Genetics . 43 . 3 . 274–279 . 2005 . Naeem . M . Wajid . M . Lee . K . Leal . S. M . Ahmad . W .
2. Web site: Ectodermal dysplasia, pure hair-nail type . Gfmer.ch . 2009-12-26 . 2010-01-20 . https://web.archive.org/web/20110227094409/http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?cat3=1615 . 2011-02-27 . dead .