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What is ectodermal dysplasia what areas of the body does it affect and is there a cure?
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Ectodermal dysplasia?
DefinitionEctodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands.Alternative NamesAnhidrotic ectodermal dysplasia; Christ-Siemens-Touraine syndromeCauses, incidence, and risk factorsThere are many different types of ectodermal dysplasia.Many gene defects can cause ectodermal dysplasias. The most common form of ectodermal dysplasia usually affects men. Other forms of the disease affect men and women equally.SymptomsPeople with ectodermal dysplasia may not sweat or may have decreased sweating because of a lack of sweat glands.Children with the disease may have difficulty controlling fevers. Mild illness can produce extremely high fevers, 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.Other symptoms include:Abnormal nailsAbnormal or missing teethAbsent or decreased tearsDecreased skin color (pigment)Heat intoleranceInability to sweatLarge foreheadLower-than-normal number of teethLow nasal bridgePoor hearingPoor temperature regulationPoor visionThin, sparse hairThin skinSigns and testsTests that may be done include:Biopsy of the mucus membranesBiopsy of the skinGenetic testing (available for some types of this disorder)TreatmentThere is no specific treatment for this disorder.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.Live in a cooler climate and 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).Expectations (prognosis)Having ectodermal dysplasia will not shorten your lifespan, but you must pay constant attention to temperature regulation and other problems associated with this condition.ComplicationsBrain damage caused by increased body temperatureSeizures caused by high fever (febrile seizures)Calling your health care providerCall for an appointment with your health care provider if your child shows symptoms of this disorder.PreventionIf 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.ReferencesMorelli JG. Ectodermal dysplasias. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier;2007:chap 648.
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