Ectodermal dysplasias is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands.
Anhidrotic ectodermal dysplasia; Christ-Siemens-Touraine syndrome; Anondontia; Incontinentia pigmenti
There are many different types of ectodermal dysplasias. Each type of dysplasia is caused by specific mutations in certain genes. Dysplasia means abnormal development of cells or tissues. The most common form of ectodermal dysplasia usually affects men. Other forms of the disease affect men and women equally.
People with ectodermal dysplasia may not sweat or sweat less than normal because of a lack of sweat glands.
In children with the disease, their bodies may have a problem controlling fevers. Even a mild illness can produce an extremely high fever, because the skin cannot sweat and control temperature properly.
Affected adults are unable to tolerate a warm environment and need measures, such as air conditioning, to keep a normal body temperature.
Depending on which genes are affected, other symptoms may include:
There is no specific treatment for this disorder. Instead, symptoms are treated as needed.
Things you can do may include:
These resources can provide more information on ectodermal dysplasias:
If you have a common variant of ectodermal dysplasia this will not shorten your lifespan. However, you may need to pay attention to temperature changes and other problems associated with this condition.
If untreated, health problems from this condition may include:
Call for an appointment with your health care provider if your child shows symptoms of this disorder.
If you have a family history of ectodermal dysplasia and you are planning to have children, genetic counseling is recommended. In many cases, it is possible to diagnose ectodermal dysplasia while the baby is still in the womb.
Abidi NY, Martin KL. Ectodermal dysplasias. In: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 668.
Narendran V. The skin of the neonate. In: Martin RJ, Fanaroff AA, Walsh MC, eds. Fanaroff and Martin's Neonatal-Perinatal Medicine. 11th ed. Philadelphia, PA: Elsevier; 2020:chap 94.