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Ectodermal Dysplasia

Group of genetic disorders manifesting in skin, sweat glands, teeth, hair, eyes and other craniofacial features.Encyclopedia Entry for Ectodermal Dysplasia :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.People with ectodermal dysplasia may not sweat or may have decreased sweating because of a lack of sweat glands. In children with the disease, their bodies may have a problem controlling fevers. Even a mild illness can produce an extremely high fever, 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. 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.Tests that may be done include: Biopsy of the mucous membranes Biopsy of the skin Genetic testing (available for some types of this disorder) X-rays of the teeth or bones may be done.There is no specific treatment for this disorder. Instead, symptoms are treated as needed. 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. 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).These resources can provide more information on ectodermal dysplasias: Ectodermal Dysplasia Society -- www.ectodermaldysplasia.org National Foundation for Ectodermal Dysplasias -- www.nfed.org NIH Genetic and Rare Diseases Information Center -- rarediseases.info.nih.gov/diseases/6317/ectodermal-dysplasia.Having the common variant of ectodermal dysplasia will not shorten your lifespan, but you must pay constant attention to temperature regulation and other problems associated with this condition.Health problems from this condition may include: Brain damage caused by increased body temperature Seizures caused by high fever ( febrile seizures ).Call for an appointment with 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. In many cases, it is possible to diagnose ectodermal dysplasia while the baby is still in the womb.Anhidrotic ectodermal dysplasia; Christ-Siemens-Touraine syndrome; Anondontia; Incontinentia pigmenti.Skin layers Skin layers.Grange DK. Ectodermal dysplasias.