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Acrodermatitis, Lethal (LAD)

General

Disease Name
Acrodermatitis, Lethal (LAD)
OMIA
2146
Gene Name
MKLN1
Mutation
c.400 + 3A> C
Test Type
Genetic Disease/Disorder
Details
Puppies Affected by Lethal Acrodermatits (LAD) have characteristic skin lesions and fail to thrive. These lesion consist of Erythema and adherent scales, primary on the feet, elbows, hocks and muzzle. Hyperkeratosis of the foot pads also occurs. Dogs with LAD are also immunodeficient, so frequently suffering from skin infections such as Malassezia or Candida. Puppies suffering from this condition have a greatly reduced lifespan either due to infections or they are euthanized when the condition becomes very severe and painful. (From the AHT)
Details 2
"Affected puppies show characteristic skin lesions on the feet and on the face, diarrhea, bronchopneumonia, and a failure to thrive. The skin lesions consist of erythema and tightly adherent scales, erosions or ulcerations with crusts involving primarily the feet, distal limbs, elbows, hocks, and muzzle. Later on, hyperkeratosis of the footpads and deformation of the nails occur. LAD affected dogs also show a coat color dilution in pigmented skin areas. An abnormally arched hard palate impacted with decayed, malodorous food is a characteristic clinical marker for the disease (Jezyk et al. 1986; McEwan, 1990; McEwan et al. 2000). LAD dogs are immunodeficient with a reduction in serum IgA levels and frequently suffer from skin infections with Malassezia or Candida (McEwan et al. 2001; McEwan et al. 2003). Affected puppies typically die before they reach an age of two years, either due to infections such as bronchopneumonia or because they are euthanized when their paw pad lesions become very severe and painful. They grow slower than their non-affected littermates and at the age of one year have about half the body weight and size of an unaffected dog (McEwan et al. 2000)." [This summary was copied from Bauer et al. 2018]
Published
2018, Bauer, A., Jagannathan, V., Högler, S., Richter, B., McEwan, N.A., Thomas, A., Cadieu, E., André, C., Hytönen, M.K., Lohi, H., Welle, M.M., Roosje, P., Mellersh, C., Casal, M.L., Leeb, T. : MKLN1 splicing defect in dogs with lethal acrodermatitis. PLoS Genet 14:e1007264, 2018. Pubmed reference: 29565995. DOI: 10.1371/journal.pgen.1007264.
Body/System/Process
Skin
Inheritance
AR
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