THE BIOPSY came back and it is a rare disease; Canine junctional epidermolysis bullosa (JEB) is an inherited autosomal recessive disease which is characterized by skin blisters in different body regions. The disease is clinically characterized by a bullous and ulcerative dermatitis. The disease causes a general fragility of the skin leading to the formation of the spontaneous or traumatically induced blisters and ulcers on footpads, ear surface, tail tips and pressure points on the distal limbs. The German Shorthaired Pointer (Kurzhaar) is predisposed. The authors describe an allele-specific polymerase chain reaction (PCR) for the molecular detection of the genetic mutation in the laminin 5 subunit gene (LAMA 3) which allows the identification of healthy carriers of JEB.
This is rare and neither Dr. Damiani (who was there last night) or Dr. Longo have ever seen this. I did some research last night and I contacted the Helen Woodward Animal Care and Education Society in Del Mar, California. They are a very well known organization for rescue, hospitalization, and research for all size animals. I am corresponding with a Dr. Carter about Sandy’s disease and her chances for some kind of treatment. This disease was first discovered in France in the 1980’s in this breed of dog. Now, they are seeing it in Italy as well (which makes sense). There is no cure for this disease since it is a genetic mutation and no treatment (that I have found) is recommended. Most puppies are euthanized immediately when they are discovered with this disease because the effects of it can be so severe. I think that Dr. L and Dr. D will first recommend some steroid treatment. We are hoping that she has a “mild” manifestation of the disease. They asked for a couple of days to do some research before they continue. We now know that everything we see in her is related to this disease. She did not have distemper. The pitting on her teeth is a side effect of the disease as well.
She will need to be on another round of antibiotics.
Now the good news…she is a loving, happy, grateful, sweet, beautiful little girl. We are so glad to have the opportunity to help her live!