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Ectodermal Dysplasia (ED)
Wednesday, 02 July 2003
Thursday, 19 May 2005

What

Ectodermal dysplasia (ED) syndromes are a group of genetic disorders characterized by an absence or lack of function of at least two ectoderm body parts, such as the teeth, nails, hair, sweat glands, and parts of the ear and eye. At least 150 different types of ED syndromes have been identified, each diagnosed with a different combination of symptoms.

Who

Ectodermal dysplasia occurs in about 7 in 10,000 births. The disorder occurs in all ethnicities and equally in males and females. One type of a common form of ED called hypohidrotic ED occurs more often in males (in 95% of cases) because this type has an X-linked cause (as described below in POSSIBLE CAUSES).

Signs and Symptoms

Children with ED have irregularities of their sweat glands, teeth, nails, and hair. Not all children with ED have all of these symptoms, and each symptom can vary from mild to severe. There are at least 150 different types of ED and each type has a different combination and severity of signs and symptoms. The child’s hair may be absent, sparse, or slow growing. This includes the hair on the head and body as well as eyebrows and eyelashes. Teeth may be slow to come in, abnormally shaped, small, or missing. Fingernails may be misshapen, slow growing, or brittle. Some children may not be able to sweat properly. This can lead to poor temperature control or high fevers. The child may not be able to make a normal amount of tears or saliva. They may have problems with their immune system. They may have a cleft lip and/or a cleft palate. They may have missing or abnormal fingers or toes.

Possible Causes

During pregnancy, the fetus is developing three layers of tissue- the inner layer (endoderm), middle layer (mesoderm) and outer layer (ectoderm). The ectoderm becomes various parts of the body, including: sweat glands, hair, nails, skin, parts of the teeth, parts of the ear, and parts of the eye. When the ectoderm does not form properly, these parts of the body become affected. Ectodermal dysplasia is caused by altered genes (mutations) that affect the development of the ectoderm. These altered genes can be inherited in an autosomal dominant (one parent passes an altered gene), autosomal recessive (both parents pass an altered gene), or X-linked (mother passes an altered gene to a son) manner. Different types of ED have different genes involved and different modes of inheritance. There are many of cases of ED where the exact cause is unknown.

Diagnosis

Ectodermal dysplasia is usually diagnosed by history of occurrence of ED within a family; history of the characteristic problems affecting the sweat glands, teeth, hair, nails, ears, and eyes; and physical examination. Genetic testing is available for some of the types of ED to confirm diagnosis.

Treatment

There is no cure for ED. Research is ongoing in this field. Treatment depends on the child’s symptoms. If the child is not able to produce sweat normally, air conditioning should be available at home and at school. Dentures or dental implants can help to chew food while also providing a more normal appearance to the mouth and face. Care must be taken to limit exposure to infections. The skin should be protected from infection, bleeding, or cracking. Children with hearing and visual problems should be referred to specialists for treatment to improve academic and social skills. Cosmetic procedures can be performed to help with differences of the face.

Prognosis

Ectodermal dysplasia typically has a normal life span. Individuals can live normal lives if they are properly diagnosed and treated. Children can participate in activities despite their inability to produce sweat, if the proper precautions against dehydration and overheating are taken.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

National Foundation for Ectodermal Dysplasia
This is a great and helpful website for parents who want more information. There is a newsletter, list of frequently asked questions, link for current research, and support groups. NFED also has a database of dentists and doctors recommended by families who are affected by ED.

Ectodermal Dysplasia Society
This organization is based in the United Kingdom. It provides great support and offers a lot of information about ED. They also have a newsletter and links to the latest news on this topic. There are many articles that parents of ED children have submitted, which give insight into their personal and family lives.

UCSF Center for Craniofacial Anomalies
A nice, concise summary of the disease with links to support groups.

Google Search for Ectodermal Dysplasia (ED)

References and Sources

GeneReviews: Hypohidrotic ectodermal dysplasia www.geneclinics.org/servlet/access?db=geneclinics&site=gt&id=8888891&key=zhcsGuUl-fAF-&gry=&fcn=y&fw=BslE&filename=/profiles/x-hed/index.html McKusick, V. OMIM: Ectodermal dysplasia X-linked: www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305100 Autosomal dominant: www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=129490 Autosomal recessive: www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=224900