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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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Specifications
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Year Published |
General information
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 analyzed in this test occurs in the Labrador Retriever. Other variants have been observed in the Chihuahua.
Clinical features
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.
Additional information
References
Pubmed ID: 28739597
Omia ID: 2117
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