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Ehlers-Danlos Syndrome (Labrador Type)

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Description:

Ehlers-Danlos syndrome, also called cutaneous astheaia or dermatoisparaxis, refers to a group of inherited connective tissue disorders resulting in defective collagen synthesis. As the disease is inherited, young animals are predisposed. “Stretchy” skin occurs which is predominantly near joints of the limbs. The skin tears easily and wounds may breakdown and scarring is a common sequel.

Diagnosis is clinical and biopsy may demonstrate abnormal collagen but is frequently non-diagnostic. Masson’s trichrome stain has been reportedly more useful. Collagen fibers appear fragmented with variations in length and diameter with disarray of orientation. Electron microscopy may be diagnostic if doubt exists following routine histopathological examination.

There is no treatment and management is centered around lifestyle risk management

Category:

Dermatologic - Associated with the skin

Gene:

COL5A1, chr9

Variant Detected:

c.3038delG p.Gly1013ValfsTer260

Severity:

Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

Bauer, 2019, Genes, 10;731

Associated Breed(s):

Australian Cobberdog, Australian Labradoodle , Cavador, Labradoodle , Labradoodle Retrodoodle , Labrador Retriever,

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