Ectodermal dysplasia
Anhidrotic ectodermal dysplasia; Christ-Siemens-Touraine syndrome; Anondontia; Incontinentia pigmenti
Ectodermal dysplasias is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands.
The skin is the largest organ of the body. The skin and its derivatives (hair, nails, sweat and oil glands) make up the integumentary system. One of the main functions of the skin is protection. It protects the body from external factors such as bacteria, chemicals, and temperature. The skin contains secretions that can kill bacteria and the pigment melanin provides a chemical pigment defense against ultraviolet light that can damage skin cells. Another important function of the skin is body temperature regulation. When the skin is exposed to a cold temperature, the blood vessels in the dermis constrict. This allows the blood which is warm, to bypass the skin. The skin then becomes the temperature of the cold it is exposed to. Body heat is conserved since the blood vessels are not diverting heat to the skin anymore. Among its many functions the skin is an incredible organ always protecting the body from external agents.
Causes
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.
Symptoms
People with ectodermal dysplasia have a lack of sweat glands. This means they may not sweat or sweat less than normal.
In children with the disease, their bodies may have a problem controlling fevers. When the skin cannot sweat, it is hard for the body to control temperature properly. So even a mild illness can cause a very high fever.
Adults with the disease can't tolerate a warm environment. Air conditioning and other measures are needed to keep a normal body temperature.
Depending on which genes are affected, other symptoms may include:
- Abnormal nails
- Abnormal or missing teeth, or fewer than normal number of teeth
- Cleft lip
- Decreased skin color (pigment)
- Large forehead
- Low nasal bridge
- Thin, sparse hair
- Learning disabilities
- Poor hearing
- Poor vision with decreased tear production
- Weakened immune system
Exams and Tests
Tests that may be done include:
- Biopsy of the mucous membranes
- Biopsy of the skin
- Genetic testing (available for some types of this disorder)
- X-rays of the teeth or bones may be done
Treatment
There is no specific treatment for this disorder. Instead, symptoms are treated as needed.
Things you can do may include:
- Wear a wig and dentures to feel more comfortable about appearance.
- Use artificial tears to prevent dry eyes.
- Use saline nose spray to remove debris and prevent infection.
- Take cooling water baths or use water sprays to keep a normal body temperature. Water evaporating from the skin replaces the cooling function of sweat evaporating from the skin.
Support Groups
These resources can provide more information on ectodermal dysplasias:
- National Foundation for Ectodermal Dysplasias --
www.nfed.org - NIH Genetic and Rare Diseases Information Center --
rarediseases.info.nih.gov/diseases/6317/ectodermal-dysplasia
Outlook (Prognosis)
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.
Possible Complications
If untreated, health problems from this condition may include:
- Brain damage caused by increased body temperature
- Seizures caused by high fever (febrile seizures)
When to Contact a Medical Professional
Contact your health care provider if your child shows symptoms of this disorder.
Prevention
If you have a family history of ectodermal dysplasia, and you are planning to have children, genetic counseling is recommended. Often, it is possible to diagnose ectodermal dysplasia while the baby is still in the womb.
References
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.
Version Info
Last reviewed on: 7/1/2023
Reviewed by: Ramin Fathi, MD, FAAD, Director, Phoenix Surgical Dermatology Group, Phoenix, AZ. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
