Ectodermal Dysplasia |
To assist you in understanding ED we have broken the information page into the following categories What part of the body is affected by ED? Are there psychological or intellectual development issues associated with ED? What specific type of ED affects my family? Ectodermal Dysplasia – What is it? Ectodermal Dysplasia is commonly known as ED. ED is a complex group of syndromes affecting various body structures, depending upon the type of ED that is impacting on your family. ED is a genetic condition and can either be present in a person after being passed on by one or both parents or can occur as a mutation of a gene during the development of the foetus. Information about the genetic aspects of your type of ED is best sought from a geneticist.
Ectodermal Dysplasia The ectodermal dysplasia syndromes (EDs) are a group of inherited disorders that involve defects of the hair, nails, teeth, and sweat glands. The types of EDs are recognized by the combination of physical features that an affected person has and the way they are inherited. The word “dysplasia” refers to abnormal organization of cells in the organs of the body. Any organ of the body may be dysplastic (affected by a dysplasia), when the dysplasia involves an organ derived from the ectoderm, it is proper to say the end result is an ectodermal dysplasia (ED) without further qualification. ED syndromes involve combinations of abnormalities of two or more ectodermal structures. Some of the many combinations are shown in the Body Parts Affected by Ectodermal Dysplasia Any part of the body that is derived from the ectoderm may be affected in the various EDs. The skin is fair and appears thin in some types of ED. The surface blood vessels may be visible. Individuals with ED may be sensitive to sunlight, but can tolerate outdoor activities. There is often darkening around the eyes or on the elbows, palms, and soles.. Oil and sweat glands may be poorly developed or absent. Often the skin of a newborn is like that of a “post-mature” baby with increased redness and peeling. This clue can lead to early diagnosis of ED. Sweat Function Diminished or absent sweating is a common problem in some types of ED. The sweat glands may be absent, reduced in number, or may not function normally. Reduced sweating may result in very high fevers, because the body regulates its temperature by sweating. Often, the first clue that the sweat glands are absent or are not functioning normally is an elevated temperature. Hair The scalp hair may be absent, sparse, fine, lightly pigmented, or abnormal in texture. The hair may also be fragile and unruly, sticking out in all directions and difficult to comb. The hair is dry because the oil glands are absent or poorly developed. Hair growth in some types of ED is slow and haircuts are not often needed. After puberty, hair growth improves in some individuals. The eyebrows, eyelashes, and other body hair may also be absent or sparse, but beard growth in males is usually normal.
Nails The nails in some types of ED may be poorly developed, small, thick or thin, brittle, discolored, cracked, or ridged. In addition, they may grow slowly or shed periodically and may develop light spots, lines, or patches. The nails may become infected by fungus or yeast. Teeth Some or all teeth may be delayed in erruption or fail to erupt. Teeth that are present may be widely spaced, tapered, or malformed. In individuals with some types of ED, the enamel (outer layer of the teeth) is defective and there may be an excessive number of cavities. When teeth are missing, the jawbones in which they are ordinarily held do not develop well, leading to a typical “old-age” appearance of the face. Some females carrying the gene for some types of ED may have front teeth that are narrower than normal. Complete or partial dentures can be made to replace missing teeth. Although success with such dentures depends on cooperation, they can be used successfully in children as young as two years of age, particularly if the child is properly motivated by the parents and other relatives. Ear, Nose, and Throat The underproduction of body fluids in some types of ED leads to several Other Body Parts Tearing may be reduced, leading to dryness and irritation of the eyes and sensitivity to sunlight. There may be cloudy corneas or cataracts. Respiratory infections may be common. There may also be growth problems, so that individuals with some types of ED are shorter than average early in life, although studies are showing that adult stature may be average. Other cosmetic problems in some types of ED include a prominent forehead, flat or depressed bridge of the nose, and poor breast development in females.
The Psychology of Ectodermal Dysplasia Individuals affected by ED have a wide range of mental abilities. Nonetheless, they may be seen by themselves or their peers as different because of their physical appearance. The earlier sections on teeth, hair, and skin describe things which can be done to help this perceptual problem. There is little information about emotional adjustment in persons with ED. The existence of ED in a family member may cause stress for the entire family. While such stress is an extra burden, it can also lead to emotional growth for everyone concerned. Parents can help their children maximize their adjustment through supportive emotional environment, by encouraging the development of whatever special skills they possess and by helping them to lead essentially normal lives. Many individuals with ED may be given a correct diagnosis eventually. There are, however, some individuals who do not fit neatly into one or another recognized category. In other words, there always seem to be individuals with the label ectodermal dysplasia - type unknown. This situation may be frustrating for families. INFORMATION PROVIDED IN THESE PAGES ARE TAKEN FROM PUBLICATIONS FROM THE NFED AND KINDLY REPRODUCED WITH THEIR PERMISSION. The information is only extracts and full copies of the publications are available from ozED or NFED. The publications are from “Family Guide” © NFED and “Multi-syndrome guide” © NFED.
|