|
|
|
|
|
| Definition: |
A hereditary condition characterized by abnormal development of the skin and associated structures (hair, nails and teeth, and sweat glands).
|
| Alternative Names: |
Anhidrotic ectodermal dysplasia
|
| Causes, incidence, and risk factors: |
There are several different types of ectodermal dysplasia of which X-linked anhidrotic ectodermal dysplasia is the most common. This condition affects only males. An autosomal dominant form exists in which females and males are equally affected and is symptomatically almost identical to the X-linked form of the disease. Multiple genes have been discovered to cause ectodermal dysplasias.
Ectodermal dysplasia may affect, to varying degrees, all of the structures associated with the development of the skin. Absent or decreased sweating in people with anhidrotic ectodermal dysplasia is caused by absence of sweat glands. Affected children have difficulty controlling fevers and mild illness may produce extremely high fevers, because of absent temperature regulation by sweating. Affected adults are unable to tolerate a warm environment and require special measures to maintain a normal body temperature.
Mucus membrane involvement results in chronic nasal infections with foul-smelling discharge and increased respiratory infections. Hair may be absent or very scanty. The skin is thin with light pigmentation. Teeth develop abnormally and many teeth are missing. |
| Symptoms: |
- decreased numbers of teeth
- peg teeth
- teeth - delayed or absent formation
- inability to sweat
- absent tears (occasional)
- thin skin
- decreased pigment
- foul-smelling nasal discharge
- poor temperature regulation
- heat intolerance
- scanty hair
- absent hair
- abnormal nails
- low nasal bridge
|
| Signs and tests: |
- biopsy of the mucus membranes (shows absent mucous glands, hypoplastic mucous membranes)
- biopsy of the skin (shows absent or hypoplastic sweat glands)
- genetic testing is available for some subtypes of this group of disorders.
|
| Treatment: |
| There is no specific treatment for this disorder. Cosmetic and functional improvements can be made through the use of wigs in the absence of scalp hair and dentures to replace missing and defective teeth. Synthetic tears may be necessary to replace normal tearing and prevent drying of the eyes. The nose may have to be irrigated frequently to remove purulent debris and prevent infection. Temperature control is a constant problem. Affected people require a cooler climate and may require frequent cooling water baths or sprays to maintain a normal body temperature. (Water evaporating from the skin replaces the cooling function of sweat evaporating from the skin.) |
| Expectations (prognosis): |
| Ectodermal dysplasia is compatible with a normal life span, but constant attention must be paid to temperature regulation and other problems that may exist. |
| Calling your health care provider: |
| Call for an appointment with your health care provider if your child shows symptoms of this disorder. |
| Prevention: |
| Genetic counseling for prospective parents with a family history of ectodermal dysplasia is recommended. Intrauterine diagnosis of this condition is not available. |
|
|
Review Date: 12/3/2001
Reviewed By: David G. Brooks, M.D., Ph.D., Division of Medical Genetics, University of Pennsylvania Medical Center, Philadelphia, PA. Review provided by VeriMed Healthcare Network.
|
 |
A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org). URAC's accreditation program is the first of its kind, requiring compliance with 53 standards of quality and accountability, verified by independent audit. A.D.A.M. is among the first to achieve this important distinction for online health information and services. A.D.A.M. is also a founding member of Hi-Ethics (www.hiethics.com) and subscribes to the principles of the Health on the Net Foundation (www.hon.ch).
|
The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. Copyright 2003 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
|
