Pure hair-nail type 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]

Pure hair-nail type ectodermal dysplasia
Other names	Hair-nail ectodermal dysplasia

See also

• List of cutaneous conditions

References

1. Naeem, M; Wajid, M; Lee, K; Leal, S. M; Ahmad, W (2005). "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. doi:10.1136/jmg.2005.033381. PMC 2563238. PMID 16525032.
2. "Ectodermal dysplasia, pure hair-nail type". Gfmer.ch. 2009-12-26. Archived from the original on 2011-02-27. Retrieved 2010-01-20.

External links