Ectodermal dysplasia, hair-nail type

Definition:

Ectodermal dysplasia (ECTD), hair-nail type is a rare condition involving only tissues of ectodermal origin. Patients show complete alopecia and primitive nails. Autosomal recessive type has previously been associated with mutations in either KRT85, KRT74 or HOXC13.

References:

[1]. A W Monreal, et al. Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia. Nat Genet. 1999 Aug;22(4):366-9. [Content Brief]

[2]. Doroteya Raykova, et al. Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis. PLoS One. 2014 Apr 8;9(4):e93607. [Content Brief]

[3]. M Naeem, et al. A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type. J Med Genet. 2006 Mar;43(3):274-9. [Content Brief]

[4]. W H Irwin McLean, et al. Keratin disorders: from gene to therapy. Hum Mol Genet. 2011 Oct 15;20(R2):R189-97. [Content Brief]

[5]. Yasmin A Issa, et al. Mutation of KREMEN1, a modulator of Wnt signaling, is responsible for ectodermal dysplasia including oligodontia in Palestinian families. Eur J Hum Genet. 2016 Oct;24(10):1430-5. [Content Brief]

[6]. Zhimiao Lin, et al. Loss-of-function mutations in HOXC13 cause pure hair and nail ectodermal dysplasia. Am J Hum Genet. 2012 Nov 2;91(5):906-11. [Content Brief]

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