Epitheliogenesis imperfecta

From Cow
Epitheliognesis in a calf[1]

Epitheliogenesis imperfecta is a rare autosomal recessive congenital skin disease of cattle worldwide.

Epitheliogenesis imperfecta (aplasia cutis) has been reported in Holstein-Friesian, Hereford, Ayrshire, Jersey, Shorthorn, Aberdeen Angus, Dutch Black Pied, Swedish Red, Wagyu[2] and German Yellow Pied cattle[3].

Epitheliogenesis imperfecta is an epidermal disease with fissures and blisters within basal cells on the basement membrane as well as metabolic disease affecting the dermal fibroblasts. These fibroblasts showed a significant decrease in collagen biosynthesis with an increase in the percentage of type III collagen and also a decrease in the biosynthesis of lipids, especially glycerides and cholesterol[4].

The disease is commonly observed in newborn calves and characterized by well-demarcated discontinuities in the skin or mucous membranes. Other concurrnt congenital disorders may be present such as cleft palate and polydactyly[5]. Secondary bacterial infections are common.

Diagnosis is based on presenting clinical signs of an absence of epithelium over extensive areas of limbs, muzzle, nostrils, Other locations include the tongue, hard palate, cheeks and esophagus[6].

A differential diagnosis would include ectodermal dysplasia.

In severely affected calves, the disorder is invariably fatal due to toxemia.

Surgical intervention by use of skin grafts may be possible in valuable animals, but most calves are culled.


  1. Drost Project
  2. Ogino A et al (2012) De novo mutation of the bovine EDA gene associated with anhidrotic ectodermal dysplasia in Japanese Black cattle. Anim Genet 43(5):646
  3. Merck Vet Manual
  4. Frey J et al (1989) Collagen and lipid biosynthesis in a case of epitheliogenesis imperfecta in cattle. J Invest Dermatol 93(1):83-86
  5. Yeruhama I et al (2005) Simultaneous occurrence of epitheliogenesis imperfecta with syndactyly in a calf and a lamb. Aust Vet J 83(3):149-150
  6. Dalir-Naghadeh B et al (2004) Congenital bovine epitheliogenesis imperfecta: a report of three cases from Iran. J Vet Med A Physiol Pathol Clin Med 51(9-10):409-412