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Ectodermal dysplasias (ED) are a group of more than 180 disorders that affect the outer layer of tissue of the embryo (ectoderm) that helps make up the skin, sweat glands, hair, teeth, and nails. Symptoms of ED can range from mild to severe and may include teeth abnormalities; brittle, sparse or absent hair; abnormal fingernails; inability to perspire (hypohidrosis); various skin problems; and other symptoms. Different types of EDs are caused by mutations in different genes, and can be inherited in a variety of ways. No cure currently exist for the different types of ED, but many treatments are available to address the individual symptoms.
Source: GARD Last updated on 05-01-20
Ectodermal dysplasias are genetic disorders, which means that they can be passed on from affected people to their children. They are caused by mutations in various genes; the mutations may be inherited from a parent, or normal genes may become mutated at the time of egg or sperm formation, or after fertilization. The risk for parents to have an affected child depends on the inheritance pattern of the specific type of ectodermal dysplasia with which the individual in the family has been diagnosed. Thus, a family affected by an ectodermal dysplasia should consider speaking with a geneticist or a genetic counselor for a better understanding of the specific ectodermal dysplasia and the probabilities or risks that the ectodermal dysplasia will occur in any future pregnancy.
Sometimes, when an individual is the first person in a family to be affected with an ectodermal dysplasia, it is because a new mutation occurred in that individual, and neither of the parents carry a mutated copy of the gene. Usually, in this case, there is little chance (about 1%) that it will occur in another child of the same parents. However, the affected child may transmit the disease-causing gene to future generations. It is also important to know that even in families and individuals who have the exact same mutation, there can be variability in how the condition affects each family member.
Individuals who have questions about their own genetic risks or status, or risks to current and future family members, should speak with a genetics professional.
Last updated on 05-01-20
The current research for treatment options for ectodermal dysplasia involves protein therapy but not gene therapy. Protein therapy aims to replace the missing protein that is causing a medical condition. There is an ongoing protein therapy clinical trial that seeks to replace the missing protein in individuals with X-linked hypohidrotic ectodermal dysplasia (XLHED). The ectodysplasin- A1 protein (EDA-A1), which is involved in the formation and development of skin and teeth, is found naturally in healthy people. Patients with XLHED do not produce this protein. ED1200 is a man-made form of EDA-A1 that was found to improve the development of hair, teeth, skin and some glandular structures in animals. The current clinical trial seeks to obtain data that will be useful for determining the appropriate dosing of ED1200 for babies born with XLHED. To view information about this clinical trial please click here.
The XLHED Network is a group for patients and familes afffected by hypohidrotic ectodermal dysplasia or XLHED. Members of the network receive updates on HED and XLHED research and upcoming clinical trials. To learn more about this network please visit the following link. http://xlhednetwork.com/
Last updated on 05-01-20
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