Disease overview

Ectodermal dysplasia - skin fragility syndrome (ED-SFS) is a condition characterized by skin sloughing from friction. This painful process occurs immediately after birth.

Gene name

PKP1

Inheritance

Autosomal recessive

Signs and symptoms

Affected dogs will have immediate skin sloughing from the nose and footpad. Ear tips are easily injured and will bleed. Superficial skin layers will slough off easily. This is a very painful condition.

How is it diagnosed

Though signs are immediate, when at the veterinarian, you can expect them to conduct a thorough exam, including a review of clinical signs. Genetic testing can help breeders identify affected and carrier dogs.

Breeds at higher risk

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Citations

Olivry T, Linder KE, Wang P, Bizikova P, Bernstein JA, Dunston SM, Paps JS, Casal ML. Deficient plakophilin-1 expression due to a mutation in PKP1 causes ectodermal dysplasia-skin fragility syndrome in Chesapeake Bay retriever dogs. PLoS One. 2012;7(2):e32072. doi: 10.1371/journal.pone.0032072. Epub 2012 Feb 22. PMID: 22384142; PMCID: PMC3284538.

Disclaimer

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