Hypohidrotic ectodermal dysplasia

Definition:

Hypohidrotic ectodermal dysplasia (HED) is a condition characterized by major involvement of ectodermal structures with perturbed formation and maturation of teeth, hair, and sweat glands. HED is caused by defective epithelial-mesenchymal interaction that involves the Ectodysplasin/Edar/Edaradd signaling pathway. Congenital anhidrotic ectodermal dysplasia is a sex-linked disorder characterized by incomplete development of the dermis, resulting in the absence of hair follicles and sweat glands with anodontia in affected males.

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]. D J Headon, et al. Gene defect in ectodermal dysplasia implicates a death domain adapter in development. Nature. 2001 Dec;414(6866):913-6. [Content Brief]

[3]. E Bal, et al. Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus. Hum Mutat. 2007 Jul;28(7):703-9. [Content Brief]

[4]. Ellen H J van den Bogaard, et al. Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin. Genet Med. 2019 Jul;21(7):1559-1567. [Content Brief]

[5]. Hanan E Shamseldin, et al. KDF1, encoding keratinocyte differentiation factor 1, is mutated in a multigenerational family with ectodermal dysplasia. Hum Genet. 2017 Jan;136(1):99-105. [Content Brief]

[6]. J Kere, et al. X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. Nat Genet. 1996 Aug;13(4):409-16. [Content Brief]

[7]. J Lamartine, et al. Towards a new classification of ectodermal dysplasias. Clin Exp Dermatol. 2003 Jul;28(4):351-5. [Content Brief]

[8]. Manuela Priolo, et al. Ectodermal dysplasias: an overview and update of clinical and molecular-functional mechanisms. Am J Med Genet A. 2009 Sep;149A(9):2003-13. [Content Brief]

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