OMIA 000348-9823 : Epitheliogenesis imperfecta in Sus scrofa

In other species: domestic cat , cattle , horse , sheep , water buffalo

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 107600 (trait) , 600360 (trait)

Mendelian trait/disorder: unknown

Considered a defect: yes

Cross-species summary: Congenital absence of the skin.

Species-specific name: Aplasia cutis congenita

Species-specific description: Affected piglets usually die within three days, but some survive to adulthood. The chance of survival is indirectly proportional to the area of skin that is absent.


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2006 Benoit-Biancamano, MO., Drolet, R., D'Allaire, S. :
Aplasia cutis congenita (epitheliogenesis imperfecta) in swine: observations from a large breeding herd. J Vet Diagn Invest 18:573-9, 2006. Pubmed reference: 17121085.
1955 Sailer, J. :
Imperfect epithelium formation - a hereditary defect in pigs Tierarztliche Umschau 10:215-216, 1955.
1951 Bentinck-Smith, J. :
A congenital epithelial defect in a herd of Berkshire swine Cornell Veterinarian 41:47-51, 1951. Pubmed reference: 14812841.
1929 Nordby, J.E. :
Congenital skin, ear, and skull defects in a pig Anatomical Record 42:267-280, 1929.

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  • Created by Frank Nicholas on 01 Dec 2009