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Incontinentia pigmenti (IP) is an ectodermal dysplasia characterised by skin lesions evolving over time, as well as dental, nail, and ocular abnormalities.
10 working days
Specifications
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Hair, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
General information
Incontinentia pigmenti (IP) is an ectodermal dysplasia characterised by skin lesions evolving over time, as well as dental, nail, and ocular abnormalities. Due to X-linked dominant inheritance IP symptoms can only be seen in female individuals while affected males die during development in utero.
Clinical features
Affected mares develop pruritic, exudative lesions soon after birth. These evolve into wart-like lesions and areas of alopecia (hair loss). Occasionally, hair re-growth with a wooly appearance is observed. Affected horses also have streaks of darker and lighter coat colouration from birth resembling the brindled coat colour.
Additional information
Comparative data strongly favors this causative variant for the observed IP in horses.
References
Pubmed ID: 24324710
Omia ID: 1899
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