What are the signs & symptoms that develop in affected dogs?

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.

How do vets diagnose this condition?

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.

How is this condition treated?

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.

all health conditions

Junctional Epidermolysis Bullosa

skin & connective tissue

Junctional Epidermolysis Bullosa (JEB) is a hereditary blistering disease of the skin and mucous membranes, characterized by the spontaneous development of vesicles, erosions, and ulcers upon minimal trauma to the skin.

Signs and symptoms

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.

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Diagnosis

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.
Treatment
What to do if your dog is at risk

Actions
- Monitor the dog closely and have them treated promptly for any injuries. Ulcerations of the skin and mucous membranes are painful and can become infected, so pain management and antibiotics may be needed.
Genetic Information

This variant was first identified in Australian Shepherds.

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 names:

LAMB3 Exon 11 ‐ chr

Inheritance type:

recessive

Citations:

Kiener et al 2020 , Marin-Garcia and Llobat 2022 , Leeb Roosje and Welle 2022
Breeds affected
This health condition affects the following breeds
- Australian Shepherd

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What our DNA kits test for:

Junctional Epidermolysis Bullosa

Signs and symptoms

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Diagnosis

Treatment

What to do if your dog is at risk

Actions

Genetic Information

Gene names:

Inheritance type:

Citations:

Breeds affected

Australian Shepherd

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Dog owners

Breeding programs

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