Junctional Epidermolysis Bullosa

Affected dogs easily develop blisters, deep erosions, and ulcers. Ulcers may occur in or on the mouth and throat, foot pads, elbows, ankles, knees, tail, vulva/labia, penis/prepuce, and abdomen. The ulcers may ooze or be covered by crusts. Nails may be missing or misshapen. Puppies may be underweight and have enlarged lymph nodes.

Clinical signs begin at or soon after birth.

Genetic testing, skin biopsy, and clinical signs can be used in conjunction with one another to diagnose Junctional Epidermolysis Bullosa. Clinical signs alone cannot reliably allow a veterinarian to differentiate between the three main subtypes of epidermolysis bullosa. For a more precise diagnosis, a microscopic evaluation of the tissue may be required.

Frank discussions about quality of life are likely warranted. While few cases have been reported, affected dogs have had to be euthanized at 4-8 months of age due to the severity of their clinical signs.

Talk to your vet about your dog’s JEB result so you can plan how best to support them at home.

Handle your dog gently and keep their environment soft and padded by using fleece blankets or foam padding, non-slip mats, and avoiding rough surfaces or sharp edges to reduce trauma to fragile skin.

Watch for wounds or ulcerations on the skin or mucous membranes. Seek veterinary care quickly if you notice deep sores, bleeding, or signs of infection, and follow the vet’s advice for pain management and antibiotics.

As JEB can be severe in some dogs, working closely with your vet to monitor your dog’s comfort and mobility is key.

This variant was first identified in Australian Shepherds.

Penetrance: JEB is inherited in an autosomal recessive manner, meaning that affected dogs must have two copies of the variant to show clinical signs from it.

Gene

LAMB3 Exon 11

Inheritance type

recessive

Clinical category

Integument

Citations

1. Kiener et al 2020
2. Marin-Garcia and Llobat 2022
3. Leeb Roosje and Welle 2022

• Australian Shepherd
• Australian Shepherd