Ectodermal Dysplasia, Skin Fragility Syndrome

Affected dogs have skin that is injured easily.

Signs first appear in puppies.

Genetic testing, skin biopsy, and clinical signs can be used to diagnose this condition.

There is no treatment currently for this condition, and multiple different techniques may need to be used to make sure an affected dog will heal from an injury.

Talk to your vet about your dog’s ectodermal dysplasia, skin fragility syndrome result so you can plan appropriate care and monitoring.

Handle your dog gently and provide soft bedding materials such as fleece or foam padding to minimize friction and protect their skin.

Keep your dog’s environment safe by covering hard floors with rugs or mats and removing rough surfaces or sharp edges that could cause injury.

If wounds occur, seek veterinary attention promptly to reduce the risk of infection and support healing.

This mutation was first described in Chesapeake Bay Retrievers.

Penetrance: This disease is inherited in an autosomal recessive manner, meaning that affected dogs must have two copies of the mutation to show clinical signs.

Gene

PKP1 (Intron 1 splice site)

Inheritance type

recessive

Clinical category

Integument

Citations

1. Olivry et al 2012

• Chesapeake Bay Retriever