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Acrodermatitis enteropathica (AE)

Dermatological · Cat

Acrodermatitis enteropathica is a hereditary disease of zinc metabolism described exceptionally in the cat, with cases reported in the Turkish Van. Failure of intestinal zinc absorption produces severe chronic dermatitis around the natural orifices, on the extremities and in pressure areas, together with diarrhoea, growth retardation and increased susceptibility to infections. It progresses in a chronic and debilitating manner. The test aims to identify affected animals and carriers in breeds at risk.
Inheritance patternAutosomal recessive (confirmed in the described feline litter).
Gene / MutationSLC39A4 c.1057G>C p.(G353R); NC_058385.1:g.83034002C>G (XM_004000173.4; OMIA:000593-9685).
PenetrancePresumably complete in homozygotes, with expression conditioned by dietary zinc intake. Heterozygotes would be clinically normal; the feline variant cosegregates with the phenotype in the described litter.
Sample type0,5 - 1 ML Sangre EDTA o 2 Hisopos bucales sin medio de raspado intenso
Codevpuk
Turnaround time15 days
Price52,60 €
BreedsVan turco

Incidence

Exceptional disease in the feline species, with cases reported in Turkish Van cats (one molecularly characterised litter). No published incidence or carrier figures (limited data). In the face of a compatible case, confirm clinically and biochemically and consider SLC39A4 genotyping.

Clinical signs

- Chronic dermatitis with crusts and erythema around the eyes, mouth, chin and ears\n- Lesions on the paw pads and pressure areas of the extremities\n- Alopecia and hyperkeratosis in distal regions\n- Intermittent or chronic diarrhoea with malabsorption\n- Growth retardation and poor body condition in kittens\n- Recurrent skin and systemic infections\n- Lethargy and progressive deterioration without treatment

History

Acrodermatitis enteropathica has been known for decades in human medicine as a recessive disorder of the intestinal zinc transporter (SLC39A4/ZIP4 gene), correctable with supplementation. In the feline species, Kiener et al. (2021) identified in a litter of Turkish Van cats the variant SLC39A4 c.1057G>C p.(Gly353Arg), with cosegregation with the phenotype and absence of the allele in 173 control cats, which confirmed the molecular basis of the feline form. Diagnosis is also supported by the clinical picture, serum zinc and the response to supplementation.

Breeder management

- In the face of refractory chronic dermatitis with low serum zinc in a kitten, suspect AE and consult the dermatologist before attributing it to diet\n- Do not cross the parents of an affected kitten: both would be presumed carriers\n- Avoid repeating crosses that have produced litters with compatible conditions and document the cases\n- Use the genetic test if your laboratory offers it, but interpret the result together with the clinical picture and serum zinc\n- In breeds at risk, prioritise lines without a history of chronic neonatal dermatoses

Specialist notes

The differential diagnosis of chronic dermatitis in the kitten includes dermatophytosis, demodicosis, allergic dermatitis, dietary zinc deficiency (home-made or single-food diets) and skin neoplasms. Low serum zinc and a sustained response to supplementation support AE; biopsy shows non-specific parakeratotic hyperkeratosis. Oral zinc supplementation according to veterinary guidelines improves the signs but requires monitoring, and affected animals should not be used in breeding.

References

1. Kiener S, Cikota R, Welle M, Jagannathan V, Åhman S, Leeb T. 2021. A Missense Variant in SLC39A4 in a Litter of Turkish Van Cats with Acrodermatitis Enteropathica. Genes (Basel) 12(9):1309. PMID: 34573291
2. OMIA:000593-9685. Acrodermatitis enteropathica in Felis catus (domestic cat).

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Price: 52,60 € · Turnaround time: 15 days

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