Exfoliative Cutaneous Lupus Erythematosus (ECLE) or Lupoid Dermatosis (LD)
If you are looking for a German Shorthaired Pointer (GSP) as your next hunting buddy, there is some due diligence required on your part and your breeder. The thought of getting that new canine companion to run the pheasant fields and grouse coverts can be very exciting. Coming home with that cute bundle of joy straight from a professional breeder is a dream come true for many of us who love the GSP. In the excitement of this process, many important details could be overlooked with respect to a debilitating disease that afflicts only the German Shorthaired Pointer breed and humans alike. The disease is called: Exfoliative Cutaneous Lupus Erythematosus (ECLE), also referred to as Lupoid Dermatosis (LD). A similar form, Cutaneous Lupus Erythematosus (CLE), occurs in humans. LD has been found in GSPs in North America, Europe and Australia.
What are the symptoms of the disease?
The symptoms of LD include severe scaling of the skin, dry flaky looking skin and pain in the joints. These symptoms can start to appear as early as 8 weeks and as late as 40 weeks old. With the progression of disease, it becomes much more painful. Dry crusts and lesions start to appear on the face, back, ears, and scrotum. Hairs are lost as it spreads on the skin and in most cases the hair never returns to affected areas. The lesions expose the skin to infectious agents such as fungus and bacteria allowing them to easily infect the underlying skin tissue. This situation can be extremely painful for the dog. Recurrent infections can further worsen the situation. The joint pain can result in lameness and lethargy. So far, no cure has been discovered for LD and proves to be fatal in most instances. Most of the dogs affected are euthanized by the age of four due to the extreme pain they have to endure.
How to diagnose the disease?
From research it appears that LD first appeared in the 1970s. In many cases the disease is often misdiagnosed as an allergic reaction, demodectic mange, dandruff or other ailment. Apart from the physical symptoms, the definitive way to diagnose the disease is through a skin biopsy or a recently developed DNA test explained below. After the disease has been identified, certain measures can be taken to lessen the pain, such as medicated shampoos, lotions, and steroids to treat the skin. Some dogs have benefitted from hydroxychloroquine treatments but nothing has been proven with consistency to alleviate or remedy the symptoms of LD.
What causes the disease?
LD is a hereditary condition that is inherited as autosomal recessive condition. It results from a genetic mutation that can run from generation to generation in the German Shorthaired Pointer breed. Because it is a recessive condition, a LD affected dog had to receive a copy of the mutated gene from both parents, therefore when breeding a carrier with a non-carrier none of the resultant puppies will get LD. However, a percentage of those puppies will still carry the recessive gene (carrier). The disease is only expressed when two German Shorthaired Pointer dogs breed who are both carriers of the mutated gene. Some puppies are affected with LD, some are clear, and usually 50% are carriers. Thanks to a Genome-wide association study (GWAS) done at the University of Pennsylvania School of Veterinary Medicine, a SNP allele on canine chromosome 18 that segregated with the disease in 267 dogs tested was identified. Through this research the University’s School of Veterinary Medicine developed a genetic marker-based diagnostic test. The test is $75 per dog. If you are interested in getting the PennGen test done for your dog, further information is available here : http://research.vet.upenn.edu/AvailableTests/TestsAvailableatPennGen/tabid/8242/Default.aspx
Follow the steps below:
How would you like to search?
- Select the “By Breed” Radio button
- Select “Canine” in the Select Species drop down box
- Select “German Shorthaired Pointer” in the Select a Breed drop down box
- Select “DNA” in the Select Test Type drop down box.
Initially, early results of the test had some problems with the cheek brushes/swabs giving false positive results. PennGen determined the problem and have resolved it; however, we would recommend submitting a blood sample in lieu of the swab due to possible contamination.
Now responsible GSP breeders can identify carriers of LD and prevent the whelping of LD affected puppies. They can plan future breedings for the betterment of the entire GSP breed. When researching your next German Shorthaired Pointer make sure the breeder tested their breeding pairs for LD. There is speculation that some of the best GSPs in the history of field and show were carriers. These great carriers can be bred to normal dogs, have their offspring tested and only breed the offspring that tested Clear/Normal, thus continuing the line with only Clear/Normal breed stock. Through responsible breeding and testing LD can be eliminated very soon.
As of this writing, only the New Zealand Kennel Club requires a mandatory DNA test for LD/ECLE prior to registration http://accreditedbreeders.nzkc.org.nz/pdf/Breed_Tests.pdf. We think the AKC, GSPCA, and CHIC should take a more active role in educating both breeders and buyers on this disease and help eliminate it in one of our favorite GUNDOG breeds, the German Shorthaired Pointer.
For more info please see the following links:
- The link below chronicles the trials and tribulations of Pongo, a LD-affected GSP, and his owner who are spreading the word and attempting to educate the public about LD.
- Newsletter by the German Shorthaired Pointer Club of Canada – See page 6.
- Familial cutaneous lupus erythematosus (CLE) in the German shorthaired pointer maps to CFA18, a canine orthologue to human CLE. Ping Wang, Barbara Zangerl, Petra Werner, Elizabeth A. Mauldin, and Margret L. Casal. Article in Immunogenetics. 2011 April; 63(4): 197–207. Published online 2010 December 4. doi: 10.1007/s00251-010-0499-z