Ectodermal dysplasia (patient information)

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Ectodermal dysplasia

Overview

What are the symptoms?

What are the causes?

Who is at highest risk?

When to seek urgent medical care?

Diagnosis

Treatment options

Where to find medical care for Ectodermal dysplasia?

What to expect (Outlook/Prognosis)?

Possible complications

Prevention

Ectodermal dysplasia On the Web

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Images of Ectodermal dysplasia

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FDA on Ectodermal dysplasia

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Directions to Hospitals Treating Ectodermal dysplasia

Risk calculators and risk factors for Ectodermal dysplasia

For the WikiDoc page for this topic, click here

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands.

What are the symptoms of Ectodermal dysplasia?

People with ectodermal dysplasia may not sweat or may have decreased sweating because of a lack of sweat glands.

Children with the disease may have difficulty controlling fevers. Mild illness can produce extremely high fevers, 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
  • Absent or decreased tears
  • Decreased skin color (pigment)
  • Heat intolerance
  • Inability to sweat
  • Large forehead
  • Lower than normal number of teeth
  • Low nasal bridge
  • Poor hearing
  • Poor temperature regulation
  • Poor vision
  • Thin, sparse hair
  • Thin skin

What causes Ectodermal dysplasia?

There are many different types of ectodermal dysplasia.

Who is at highest risk?

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.

Diagnosis

Tests that may be done include:

  • Biopsy of the mucus membranes
  • Biopsy of the skin
  • Genetic testing (available for some types of this disorder)

When to seek urgent medical care?

Call for an appointment with your health care provider if your child shows symptoms of this disorder.

Treatment options

There is no specific treatment for this disorder.

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.
  • Live in a cooler climate and 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).

Where to find medical care for Ectodermal dysplasia?

Directions to Hospitals Treating Ectodermal dysplasia

What to expect (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

  • Brain damage caused by increased body temperature
  • Seizures caused by high fever (febrile seizures)

Prevention of Ectodermal dysplasia

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.

Sources

http://www.nlm.nih.gov/medlineplus/ency/article/001469.htm

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