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Epidermolysis bullosa simplex (German Shepherd Dog)

Epidermolysis bullosa simplex is a genetic skin disorder in which mutations in the KRT5 gene cause blistering and fragility of the skin in affected Corgis.

Affected Genes: KRT5

Inheritance: Autosomal Dominant Inheritance

Variant(canFam6): chr27:43683706-43683723 18 bp deletion GTCCAGGGAGCGGTTGTT

Breed: German Shepherd dog

General Information: Epidermolysis Bullosa Simplex (Split Paw Pad Disease) is an inherited skin disorder in German Shepherd Dogs caused by a mutation in the KRT5 gene. This condition compromises the structural integrity of the skin, resulting in fragile paw pads that are prone to splitting or blistering. The disorder follows an Autosomal Dominant inheritance pattern, meaning that a dog only needs to inherit one copy of the mutated gene from either parent to be affected.

Symptoms of this condition typically include blistering or splitting of the paw pads, especially after physical activity or walking on rough surfaces. Severe cases may lead to painful sores and secondary infections due to the skin's fragility. While this condition can impact a dog's quality of life, it is generally manageable through careful foot care, avoiding rough terrain, and prompt treatment of infections.

How to Read Your Dog's Test Results for this Genetic Variant:

Two Variants Detected: Dog Likely Affected

One Variant Detected: Dog Likely Affected

No Variants Detected: No Effect

Gene / Testing Information: Genetic testing for the KRT5 gene variant can identify whether a German Shepherd Dog is at risk of developing Epidermolysis Bullosa Simplex (Split Paw Pad Disease). This disorder is inherited in an Autosomal Dominant manner, so a dog needs only one copy of the mutated gene to be affected.

Dogs with one copy of the mutation are likely to exhibit symptoms, while those without the mutation will not be affected and cannot pass the condition to their offspring. Genetic testing is an important tool for responsible breeding practices, as pairing an affected dog with a mutation-free mate still results in a 50% chance of producing affected puppies.


References:
Rietmann SJ, Lange A, Soto S, Thom N, Manz E, Jagannathan V, Mayer U, Leeb T. KRT5 in-frame deletion in a family of German Shepherd dogs with split paw pad disease resembling localized epidermolysis bullosa simplex in human patients. Anim Genet. 2024 55(4):692-696