Ectodermal Dysplasias Overview
Learn About Ectodermal Dysplasias
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 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
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.
Kenneth Huttner is a Neonatologist in Waltham, Massachusetts. Dr. Huttner and is rated as an Elite provider by MediFind in the treatment of Ectodermal Dysplasias. His top areas of expertise are Aplasia Cutis Congenita, Ectodermal Dysplasias, and Clouston Syndrome.
Eli Sprecher is a Pediatrics provider in Boston, Massachusetts. Dr. Sprecher has been practicing medicine for over 14 years and is rated as an Elite provider by MediFind in the treatment of Ectodermal Dysplasias. His top areas of expertise are Ectodermal Dysplasias, Clouston Syndrome, Aplasia Cutis Congenita, and Naegeli-Franceschetti-Jadassohn Syndrome.
Fowzan Alkuraya is a Medical Genetics specialist and a Pediatrics provider in Boston, Massachusetts. Dr. Alkuraya and is rated as a Distinguished provider by MediFind in the treatment of Ectodermal Dysplasias. His top areas of expertise are Achalasia Microcephaly Syndrome, Microcephaly, Early Infantile Epileptic Encephalopathy, Woodhouse-Sakati Syndrome, and Vitrectomy.
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
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:
- Brain damage caused by increased body temperature
- Seizures caused by high fever (febrile seizures)
Contact 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. Often, it is possible to diagnose ectodermal dysplasia while the baby is still in the womb.
Summary: This phase III trial studies if selumetinib works just as well as the standard treatment with carboplatin/vincristine (CV) for subjects with NF1-associated low grade glioma (LGG), and to see if selumetinib is better than CV in improving vision in subjects with LGG of the optic pathway (vision nerves). Selumetinib is a drug that works by blocking some enzymes that low-grade glioma tumor cells need ...
Background: - To understand diseases of the retina and the eye, information is needed about people with and without such diseases. Researchers want to study these people and follow them over time. They also want to study body tissues and blood to understand the nature of eye disease. Studying genes, cells, and tissues may help them understand why some people get eye problems and others do not, or why some peo...
Published Date: July 01, 2023
Published 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.
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.