Disease overview

Junctionalis Epidermolysis Bullosa is a severe skin and connective tissue condition that is characterized by a separation of the specific layers of the skin. This is a severe condition, and typically leads to humane euthanasia early in life.

Gene name

LAMB3

Inheritance

Autosomal recessive

Signs and symptoms

Affected dogs will have extremely stretchy skin that is easily injured because it is detached from the underlying tissues. They may present with blisters, especially around the mouth and limbs, as well as signs of severe respiratory distress

How is it diagnosed

A veterinarian will conduct a thorough exam, including a review of health history and any clinical signs. A skin biopsy can help with diagnosis. 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

Citations

Kiener S, Laprais A, Mauldin EA, Jagannathan V, Olivry T, Leeb T. LAMB3 Missense Variant in Australian Shepherd Dogs with Junctional Epidermolysis Bullosa. Genes (Basel). 2020 Sep 7;11(9):1055. doi: 10.3390/genes11091055. PMID: 32906717; PMCID: PMC7565164.

Disclaimer

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