Disease overview

X-linked hypohidrotic ectodermal dysplasia (XHED) is a genetic disease characterized by the absence of hair, teeth, and sweat glands.

Gene name

EDA

Inheritance

X-linked recessive

Signs and symptoms

Clinical signs appear at birth. Affected puppies are born with lack of hair on the forehead and back. Eye infections and respiratory infections are common.

How is it diagnosed

A veterinarian will conduct a thorough exam, including a review of health history and any clinical signs. Genetic testing is necessary to determine if there is an underlying genetic cause, which can assist veterinarians with diagnosis and help breeders identify affected and carrier dogs.

Breeds at higher risk

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Citations

Hadji Rasouliha S, Bauer A, Dettwiler M, Welle MM, Leeb T. A frameshift variant in the EDA gene in Dachshunds with X-linked hypohidrotic ectodermal dysplasia. Anim Genet. 2018 Dec;49(6):651-654. doi: 10.1111/age.12729. Epub 2018 Oct 2. PMID: 30276836.

Selmanowitz VJ, Markofsky J, Orentreich N. Heritability of an ectodermal defect. A study of affected dogs. J Dermatol Surg Oncol. 1977 Nov-Dec;3(6):623-6. doi: 10.1111/j.1524-4725.1977.tb00369.x. PMID: 579352.

Moura E, Henrique Weber S, Engracia Filho JR, Pimpão CT. A Hypohidrotic Ectodermal Dysplasia Arising From a New Mutation in a Yorkshire Terrier Dog. Top Companion Anim Med. 2020 Jun;39:100404. doi: 10.1016/j.tcam.2020.100404. Epub 2020 Jan 23. PMID: 32482291.

Casal ML, Scheidt JL, Rhodes JL, Henthorn PS, Werner P. Mutation identification in a canine model of X-linked ectodermal dysplasia. Mamm Genome. 2005 Jul;16(7):524-31. doi: 10.1007/s00335-004-2463-4. PMID: 16151697; PMCID: PMC3330241.

Waluk DP, Zur G, Kaufmann R, Welle MM, Jagannathan V, Drögemüller C, Müller EJ, Leeb T, Galichet A. A Splice Defect in the EDA Gene in Dogs with an X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) Phenotype. G3 (Bethesda). 2016 Sep 8;6(9):2949-54. doi: 10.1534/g3.116.033225. PMID: 27449516; PMCID: PMC5015951.

Vasiliadis D, Hewicker-Trautwein M, Klotz D, Fehr M, Ruseva S, Arndt J, Metzger J, Distl O. A de Novo EDA-Variant in a Litter of Shorthaired Standard Dachshunds with X-Linked Hypohidrotic Ectodermal Dysplasia. G3 (Bethesda). 2019 Jan 9;9(1):95-104. doi: 10.1534/g3.118.200814. PMID: 30397018; PMCID: PMC6325906.

Disclaimer

Disease diagnosis and treatment should always be performed by a veterinarian. The following information is for educational purposes only.