Skin Fragility Syndrome
ED arises from a mutation in plakophilin-1 gene, which is necessary for cell-to-cell connections called desmosomes. Within the skin, desmosomes function to keep skin cells "buttoned" together such that they move and act together as a true layer of skin. Defective desmosomes means that the skin isn’t tightly connected, and so tears and abrades easily with pressure.
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Signs and symptoms
Affected dogs have skin that is injured easily.
Signs first appear in puppies. -
Diagnosis
Genetic testing, skin biopsy, and clinical signs can be used to diagnose this condition.
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Treatment
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.
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What to do if your dog is at risk
Actions
- Trying to prevent injuries from occurring is ideal. Seek treatment immediately if your affected dog is wounded.
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Genetic Information
This mutation was first described in Chesapeake Bay Retrievers.
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 names:
PKP1 (Intron 1 splice site) ‐ chr
Inheritance type:
recessive
Citations:
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Breeds affected
This health condition affects the following breeds
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