A Missense Variant in SLC39A4 in a Litter of Turkish Van Cats with Acrodermatitis Enteropathica.

In a litter of Turkish Van cats, three out of six kittens developed severe signs of skin disease, diarrhea, and systemic signs of stunted growth at 6 weeks of age. Massive secondary infections of the skin lesions evolved. Histopathological examinations showed a mild to moderate hyperplastic epidermis, covered by a thick layer of laminar to compact, mostly parakeratotic keratin. The dermis was infiltrated with moderate amounts of lymphocytes and plasma cells. Due to the severity of the clinical signs, one affected kitten died and the other two had to be euthanized. We sequenced the genome of one affected kitten and compared the data to 54 control genomes. A search for private variants in the two candidate genes for the observed phenotype, MKLN1 and SLC39A4, revealed a single protein-changing variant, SLC39A4:c.1057G>C or p.Gly353Arg. The solute carrier family 39 member 4 gene (SLC39A4) encodes an intestinal zinc transporter required for the uptake of dietary zinc. The variant is predicted to change a highly conserved glycine residue within the first transmembrane domain, which most likely leads to a loss of function. The genotypes of the index family showed the expected co-segregation with the phenotype and the mutant allele was absent from 173 unrelated control cats. Together with the knowledge on the effects of SLC39A4 variants in other species, these data suggest SLC39A4:c.1057G>C as candidate causative genetic variant for the phenotype in the investigated kittens. In line with the human phenotype, we propose to designate this disease acrodermatitis enteropathica (AE).

Nasal hyperkeratosis in Griffon breeds: Clinical, histopathological features and the prevalence in the Swedish population compared to a control group and other brachycephalic breeds.

BACKGROUND: In the Griffon breeds (GB) nasal hyperkeratosis is common and develops already in early adulthood. Breed-related features and prevalence have not previously been documented. HYPOTHESIS/OBJECTIVES: To describe clinical and histopathological features of nasal hyperkeratosis in GB and to document the prevalence. MATERIALS AND METHODS: Seven GB dogs with nasal hyperkeratosis were examined. Three histopathological samples were analysed. Owners of 107 GB and 493 control dogs completed a questionnaire distributed via social media. RESULTS: Typical features of nasal hyperkeratosis in GB included varying degrees of dry, firm, excessive proliferation of keratin, affecting the dorsal or dorsolateral aspect of the planum nasale. Histopathology was characterized by severe, lamellar orthokeratotic and focal parakeratotic hyperkeratosis and multiple small serum lakes. Thirty-four of 107 GB dogs (31.8%) and 65 of 493 (13.2%) control dogs had varying degree of nasal hyperkeratosis. No sex predisposition was noted. Median age of onset was 3 years for GB, similar to brachycephalic control dogs whereas non-brachycephalic control dogs had a significantly later age of onset (p = 0.0053). CONCLUSIONS AND CLINICAL IMPORTANCE: Idiopathic nasal hyperkeratosis is very common in GB dogs and other brachycephalic breeds with nearly one third being affected, often already a young age.

Results of allergen-specific immunotherapy in atopic dogs with Malassezia hypersensitivity: a retrospective study of 16 cases.

BACKGROUND: Hypersensitivity reactions to Malassezia spp have been shown to occur in dogs with atopic dermatitis (AD) and to cause exacerbation of clinical signs. Improvement of clinical signs following use of antifungal medication is seen with both Malassezia overgrowth or Malassezia hypersensitivity (MHS). Subcutaneous immunotherapy (SCIT) is considered a safe and effective treatment for management of canine AD. Adverse effects are considered rare. OBJECTIVES: To report on the use of SCIT with Malassezia extracts in mono-sensitized dogs. ANIMALS: Sixteen client owned dogs diagnosed with MHS and treated with SCIT. METHODS: A retrospective review of medical records of atopic dogs diagnosed with MHS, mono-sensitized for Malassezia allergens on intradermal test and treated with SCIT for more than 10 months. Efficacy was measured by decreasing use of anti-inflammatory and antifungal medication by ≥50% and by decreasing pruritus by ≥50% as assessed by owners, using a pruritus score. RESULTS: Good response to SCIT was seen in nine of 16 cases (56%) with both a reduction in use of anti-inflammatory and antifungal medication as well as a reduction in pruritus scores by ≥50%. No adverse effects were reported. CONCLUSION: Allergen-specific immunotherapy was a safe treatment for dogs with Malassezia hypersensitivity. The efficacy of Malassezia immunotherapy corresponds well to the results of previous studies of immunotherapy with other environmental allergens.

Cutaneous carriage of Malassezia species in healthy and seborrhoeic Sphynx cats and a comparison to carriage in Devon Rex cats.

Cutaneous carriage of Malassezia species yeast was investigated in 32 Sphynx cats, and in 10 domestic shorthair (DSH) cats. Samples for mycological culture were taken using contact plates and swabs at seven sites in each cat (left and right axillae and groin, left ear, claw fold on left front paw and the interdigital palmar web of the left front paw). Malassezia species were isolated from 26/32 Sphynx cats (81%) and from 0/10 DSH control cats. In five cases Malassezia species yeasts were isolated at a single site, in the remaining 21 Sphynx cats at multiple sites. A total of 73 Malassezia species isolates were made, of which 68 were Malassezia pachydermatis and five were lipid-dependent Malassezia. Five out of the 32 Sphynx had greasy seborrhoea, and all seborrhoeic cats had M pachydermatis isolated from their skin, at multiple sites. None of the 32 Sphynx had Malassezia species isolated from the ears. The difference in population sizes between Sphynx and DSH cats was significant (P