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Ichthyosis (American Bulldog)

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Test Overview:

Dog ichthyosis a hereditary, monogenic, cornification disorder, appearing early and persisting for life. Cornification disorders form a heterogeneous group of diseases characterised by abnormal differentiation (cornification) of the epidermis. Signs associated with ichthyosis can start from a very young age in some breeds, with hairless skin on the underside becoming reddened and then developing a brown scale and a wrinkly appearance. By the time the dog reaches adulthood the underside of the dog is covered in brown scale, with white-to-tan scales visible in haired areas. The feet may occasionally be affected with thickening and cracking of the footpads. Treatment of ichthyosis is aimed at relieving dryness and scale with keratolytic shampoos, which may need to be used from weekly to daily. Moisturising oils are usually applied as well, and these help to maintain the barrier function of the skin and prevent secondary infections. Diet is supplemented with fatty acids, and sometimes retinoids may also be used. Infections are treated appropriately. There is no cure, and affected animals should not be used for breeding.

Category:

Dermatologic - Associated with the skin

Gene:

NIPA like domain containing 4 (NIPAL4) on Chromosome 4

Variant Detected:

Nucleotide Deletion c.744delC p.Thr248Thrfs1X

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):

Casal, ML. A Defect in NIPAL4 Is Associated with Autosomal Recessive Congenital Ichthyosis in American Bulldogs (2017) PLoS One, 12(1): e0170708.

Associated Breed(s):

American Bulldog , American Bully , Mixed Breed,

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