Ectodermal dysplasia

The ectodermal dysplasia ( ED) is a heterogeneous group of inherited defects that cause malformations ( dysplasia ) in those structures from the outer germ layer ( ectoderm ) emerge, so for example, hair, nails, teeth and skin, including the sweat glands.

There can be distinguished two groups of ectodermal dysplasia. In the first group, patients with disorders find at least two different ectodermal structures. In the second group, only one of the above-mentioned disorders can be found, but in relation to another around the ears ectodermal disorder, lips, or foot.

The ectodermal dysplasia is hereditary, all modes of inheritance occur: autosomal dominant and recessive and X - linked dominant and recessive. The incidence of the disease is estimated at about 7 per 10,000 rebirths. More than 150 different syndromes have been identified so far.

The most common form is the anhidrotic ectodermal dysplasia, the Christ -Siemens -Touraine syndrome. This disorder are usually based on mutations in the Ectodysplasin -1 gene ( ED1 ). Since the ED1 gene is located on the X chromosome, boys are more affected than girls. Using molecular genetic methods, the clinical diagnosis can be confirmed. If appropriate, other family members be tested for the gene defect out.

Another is the Hidrotic ectodermal dysplasia, the Clouston syndrome, which was named after HR Clouston.

Ectodermal dysplasia

Further Reading