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Ectodermal dysplasia
Anhidrotic ectodermal dysplasia; Christ-Siemens-Touraine syndrome
Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands.
Causes
There are many different types of ectodermal dysplasia.
Many gene defects can cause ectodermal dysplasias. 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 may not sweat or may have decreased sweating 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 special measures to keep a normal body temperature.
Other symptoms include:
- Abnormal nails
- Abnormal or missing teeth, or fewer than normal number of teeth
- Decreased skin color (pigment), or this skin
- Large forehead
- Low nasal bridge
- Thin, sparse hair
- Learning disabilities
- Poor hearing
- Poor vision with decreased tear production
Exams and Tests
Tests that may be done include:
-
Biopsy
of the
mucus membranes
Biopsy
A biopsy is the removal of a small piece of tissue for laboratory examination.
Read Article Now Book Mark ArticleMucus membranes
Mucosa is moist tissue that lines certain parts of the inside of your body. It is in your: NoseMouthLungsUrinary and digestive tracts Glands in this...
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Biopsy of the skin
Biopsy of the skin
A skin lesion biopsy is when a small amount of skin is removed so it can be examined. The skin is tested to look for skin conditions or diseases. A...
ImageRead Article Now Book Mark Article - 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.
Some things you can do include:
- Wear a wig and dentures to improve appearance.
- Use artificial tears to replace normal tearing and prevent drying of the eyes.
- Spray the nostrils with saline nose spray often 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).
Outlook (Prognosis)
Having ectodermal dysplasia will not shorten your lifespan, but you must pay constant attention to temperature regulation and other problems associated with this condition.
Possible Complications
Health problems from this condition may include:
- Brain damage caused by increased body temperature
-
Seizures caused by high fever (
febrile seizures
)
Febrile seizures
A febrile seizure is a convulsion in a child triggered by a fever.
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When to Contact a Medical Professional
Call for an appointment with 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. In many cases it is possible to diagnose ectodermal dysplasia while the baby is still in the womb.
References
Grange DK. Ectodermal dysplasias. Rimoin D, Korf B, eds. In: Emery and Rimoin's Principles and Practice of Medical Genetics . 6th ed. Philadelphia, PA: Elsevier; 2013:chap 148.
Martin KL. Ectodermal dysplasias. In: Kliegman RM, Stanton BF, St Geme JW III, Shor NF, eds. Nelson Textbook of Pediatrics . 20th ed. Philadelphia, PA: Elsevier; 2016:chap 649.
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Skin layers - illustration
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.
Skin layers
illustration
-
Skin layers - illustration
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.
Skin layers
illustration
Review Date: 7/23/2015
Reviewed By: Kevin Berman, MD, PhD, Atlanta Center for Dermatologic Disease, Atlanta, GA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.
