Learn About Ectodermal Dysplasias

What is the definition of Ectodermal Dysplasias?

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

Save information for later
Sign Up
What are the alternative names for Ectodermal Dysplasias?

Anhidrotic ectodermal dysplasia; Christ-Siemens-Touraine syndrome; Anondontia; Incontinentia pigmenti

What are the causes of Ectodermal Dysplasias?

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.

What are the symptoms of Ectodermal Dysplasias?

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
Not sure about your diagnosis?
Check Your Symptoms
What are the current treatments for Ectodermal Dysplasias?

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.
Who are the top Ectodermal Dysplasias Local Doctors?
Highly rated in

University Hospital Erlangen

Erlangen University Hospital 
Erlangen, BY, DE 

Holm Schneider is in Erlangen, Germany. Schneider is rated as an Elite expert by MediFind in the treatment of Ectodermal Dysplasias. They are also highly rated in 7 other conditions, according to our data. Their top areas of expertise are Hypohidrotic Ectodermal Dysplasia, Ectodermal Dysplasias, Clouston Syndrome, and Aplasia Cutis Congenita.

Highly rated in

University Of Freiburg

Freiburg, BW, DE 

Rudolf Happle is in Freiburg, Germany. Happle is rated as an Elite expert by MediFind in the treatment of Ectodermal Dysplasias. He is also highly rated in 63 other conditions, according to our data. His top areas of expertise are Cutis Marmorata Telangiectatica Congenita, Epidermal Nevus, Focal Dermal Hypoplasia, and Mosaicism.

Learn about our expert tiers
Learn more
Highly rated in

School Of Dentistry

Rome, IT 

Michele Callea is in Rome, Italy. Callea is rated as an Elite expert by MediFind in the treatment of Ectodermal Dysplasias. They are also highly rated in 8 other conditions, according to our data. Their top areas of expertise are Hypohidrotic Ectodermal Dysplasia, Clouston Syndrome, Ectodermal Dysplasias, and Aplasia Cutis Congenita.

What are the support groups for Ectodermal Dysplasias?

These resources can provide more information on ectodermal dysplasias:

  • Ectodermal Dysplasia Society -- edsociety.co.uk
  • National Foundation for Ectodermal Dysplasias -- www.nfed.org
  • NIH Genetic and Rare Diseases Information Center -- rarediseases.info.nih.gov/diseases/6317/ectodermal-dysplasia
What is the outlook (prognosis) for 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.

What are the possible complications of Ectodermal Dysplasias?

If untreated, health problems from this condition may include:

  • Brain damage caused by increased body temperature
  • Seizures caused by high fever (febrile seizures)
When should I contact a medical professional for Ectodermal Dysplasias?

Contact your health care provider if your child shows symptoms of this disorder.

How do I prevent Ectodermal Dysplasias?

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.

Skin layers
What are the latest Ectodermal Dysplasias Clinical Trials?
GROWing Up With Rare GENEtic Syndromes ….When Children With Complex Genetic Syndromes Reach Adult Age
Match to trials
Find the right clinical trials for you in under a minute
Get started
Establishment of Neurofibromatosis-associated Tumours Biobank for Future Genomic-based Research Aiming at Improved Outcome Prediction
What are the Latest Advances for Ectodermal Dysplasias?
Prenatal Genetic Testing for X-Linked Hypohidrotic Ectodermal Dysplasia.
Implant restoration of hypodontia resulting from ectodermal dysplasia: a case report.
Tired of the same old research?
Check Latest Advances
Tuberous sclerosis complex misdiagnosed as multiple metastases in a cervical cancer patient: case report and literature review.
Who are the sources who wrote this article ?

Published Date : August 14, 2021
Published By : Elika Hoss, MD, Senior Associate Consultant, Mayo Clinic, Scottsdale, AZ. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

What are the references for this article ?

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.