Ectodermal dysplasia

From Cow
Deficiency of the hair coat around ears associated with ectodermal dysplasia[1]

Ectodermal dysplasia is a relatively rare X-linked recessive genetic disease of hair, teeth, and eccrine glands in calves worldwide[2][3].

This disorder is characterized by abnormal development of tissues and organs of ectodermal origin caused by mutations in the EDA gene. The bovine EDA gene encodes the ectodysplasin A, a membrane protein expressed in keratinocytes, hair follicles and sweat glands, which is involved in the interactions between cell and cell and/or cell and matrix[4].

Clinical signs in newborn calves born with a cluster of developmental anomalies such as alopecia, hypotrichosis, adontia or hypodontia and absence of sweat glands[5]. Chronic rhinotracheitis has also been reported in this disease in cattle[6].

A differential diagnosis would include epitheliogenesis imperfecta.

As this is an hereditary disease, no treatment is available and severely affected calves are usually culled.


  1. Gargani M et al (2011) A novel point mutation within the EDA gene causes an exon dropping in mature RNA in Holstein Friesian cattle breed affected by X-linked anhidrotic ectodermal dysplasia. BMC Vet Res 7:35
  2. Drögemüller C et al (2003) X-linked anhidrotic ectodermal dysplasia (ED1) in men, mice, and cattle. Genet Sel Evol 35(1):S137-S145
  3. 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
  4. Drögemüller C et al (2001) Partial deletion of the bovine ED1 gene causes anhidrotic ectodermal dysplasia in cattle. Genome Res 11(10):1699–1705
  5. Drögemüller C et al (2006) A novel mutation in the bovine EDA gene causing anhidrotic ectodermal displasia. Arch Tierz Dummerstorf 49:615–616
  6. Seeliger F et al (2005) Ectodysplasin-1 deficiency in a German Holstein bull associated with loss of respiratory mucous glands and chronic rhinotracheitis. J Comp Pathol 132(4):346-349