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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.

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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. Occasionally, hair re-growth with a wooly appearance is observed. Affected horses also have streaks of darker and lighter coat coloration 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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