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Robert Templeton, District Veterinarian Braidwood SELLS

Posted Flock & Herd January 2014


Classical epitheliogenesis imperfecta is a congenital condition characterised by failure of development of the skin and/or mucous membranes. It is not compatible with life and is therefore normally only seen in neonates (Jolly and Windsor 2010). In Australia, the condition has been reported in Australia in Friesians in northern Victoria (Pullar et al. 1963) and in Sahiwahls in northern Queensland (Fordyce et al. 1987).The condition is due to an autosomal recessive gene that is produced with the mating of two heterozygous animals.

The case reported here occurred in a shorthorn cross calf on Norfolk Island.


The affected calf was delivered normally from a first calf heifer in July 2013. The bull was unknown but would have been one of three introduced to the heifers and cows.

Clinical findings

The calf was born alive with only 5-10% of skin on its body (Figures 1-2). The ears were incomplete and the calf had anal atresia. The calf was too weak to stand. Shortly after birth the calf was euthanased.

Image of full term calf with skin abnormality
Figure 1. Calf affected by epitheliogenisis imperfecta
Image of skin abnormality close-up
Figure 2. Hindquarters of the affected calf


The Norfolk Island cattle herd mainly consists of crosses of Hereford, Angus, Shorthorn and Brahman. Shorthorn cattle were introduced to the island in the 1970s and most cattle are, to some degree, inbred. Cattle husbandry is unique in that the cattle, which enjoy right of way over vehicles, graze the roadsides for much of the year. The bulls are introduced to the cows whilst they are on the road. This calf was sired by one of three bulls introduced to the cattle herd grazing around the Cascade locality.

Pullar (1963) states that the problem is difficult to eliminate because there is no way of identifying heterozygous animals apart from test mating. Under management conditions on Norfolk Island, carriers of this recessive gene will be difficult to indentify (apart from cows that produce affected calves). It is likely that his condition will recur on the island.


To the cattle producer who gave me permission to write this article but wished to remain anonymous.


  1. Pullar E M, Leaver D E, Parsonson I M. Ethical and other problems associated with epitheliogenesis imperfecta neonatorum bovis. Australian Veterinary Journal 1963; 39: 23-25
  2. Fordyce R G, et al.. The prevalence of epitheliogenesis imperfecta in Sahiwal cattle and their crosses in a north Queensland beef herd. Aust. J. Agric. Res. 1987; 38: 427-35
  3. Jolly, R.D., Windsor, P.A. (2010). Genetic diseases of cattle. In: Parkinson TJ, Vermunt JJ and Malmo J (eds.), Diseases of Cattle of Australasia. VetLearn Foundation, Wellington, New Zealand, pages 759-777


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