Skin Conditions

Skin Conditions

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A Ectodermal Dysplasia (ED) is not a single disorder, but a group of closely related conditions of which more than 150 different syndromes have been identified. The Ectodermal Dysplasias (EDs) are genetic disorders affecting the development or function of the teeth, hair, nails and sweat glands. Depending on the particular syndrome ED can also affect the skin, the lens or retina of the eye, parts of the inner ear, the development of fingers and toes, the nerves and other parts of the body.

Causes The ectodermal dysplasias are caused by altered genes. The altered genes may be inherited or the normal genes may become defective (mutate) at the time of conception. The chances for parents to have affected children depend on the type of ED that exists in the family. It is important to remember that a person cannot chose or modify the genes that he or she has, and that events of pregnancy do not change the genes. Thus, parents who have a child with ED should not think that they did anything to cause the defective gene and should not blame themselves for its existence. The inheritance patterns are variable according to the specific type of ED. Patterns include spontaneous mutations, autosomal dominant, autosomal recessive, X-linked dominant and X-linked recessive. When questions of a diagnosis exist, the expertise of a geneticist or other doctor with experience with the EDs is strongly recommended. Genetic counselling is available for families.

Each syndrome usually involves a different combination of symptoms, which can range from mild to severe, such as: It is important to remember that not all individuals affected by the EDs will have physical features that fit the description of a specific syndrome.

Absence or abnormality of hair growth
Absence or malformation of some or all teeth
Inability to perspire, which causes overheating
Impairment or loss of hearing or vision
Frequent infections due to immune system deficiencies or, in some cases, the inability of cracked or eroded skin to keep out disease-causing bacteria
Absence or malformation of some fingers or toes
Cleft lip and/or palate
Irregular skin pigmentation.
In addition to the above they may have:
Cleft lip and/or palate
Sensitivity to light
Respiratory problems
A lack of breast development
A host of other challenges
It is important to remember that not all individuals affected by the EDs will have physical features that fit the description of a specific syndrome. There may be a great deal of variation in the physical appearance of the same type of ED from one affected person to the next. It is also conceivable for a person to have a type of ED that has not been described yet. Nonetheless, the EDs share certain features, an understanding of which makes it possible to appreciate the ramifications for most affected individuals and allows everyone involved to respond appropriately to the individual's needs.

Individuals affected by ED face a lifetime of special needs which may include:

Dentures at a young age with frequent adjustments and replacements
Special diets to meet dental/nutritional needs
Air conditioned environments
Wigs to conceal hair and scalp conditions
Carrier identification testing
Protective devices from direct sunlight
Osseointegrated dental implants
Respiratory therapies


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