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H625

Verrucous Epidermal Keratinocytic Nevi, also called CHILD-like syndrome or Congenital Cornification Disorder, is a skin disorder resulting in scaly skin and painful lesions.

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Specifiche

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue
Mode of Inheritance

Chromosome

Year Published

Informazioni generali

Verrucous Epidermal Keratinocytic Nevi, also called CHILD-like syndrome or Congenital Cornification Disorder, is a skin disorder resulting in scaly skin and painful lesions. It is caused by a semi-dominant, X-linked, homozygous lethal mutation to the gene NSDHL. The variant of the disease analysed in this test occurs in the Labrador Retriever. Other variants have been observed in the Chihuahua.

Caratteristiche cliniche

Affected puppies present soon after birth with long, line-shaped skin lesions, primarily on the head, limbs and back. The lesions lose hair, develop thick brown scales and are prone to bacterial and fungal infection, which can cause severe itching and an offensive odour. Lesions can also develop on the paw pads, resulting in horn-like growths and making it painful to stand and walk.

These symptoms occur in female carriers; male carriers of the mutation are stillborn or die soon after birth.

Informazioni aggiuntive

Riferimenti

Pubmed ID: 28739597

Omia ID: 2117

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