Ectodermal dysplasia (ED) is a group of inheritable disorders causing the hair, teeth, nails and glands to develop and function abnormally. The article discusses about the genetic aspects of ED.
What is Ectodermal Dysplasia?
Ectodermal Dysplasia (ED) is an inherited disorder that involves defects in the nails, hair, sweat glands and teeth. If a person shows two features of the condition, such as malformed teeth and extremely sparse hair, then the individual is affected by ectodermal dysplasia, a group disorder that may affect different parts of the body. Since the ectoderm is involved in the formation of different parts of the body including the lens of the eye, inner ear, fingers, toes, and nerves besides others, these parts can develop abnormality in patients with ectodermal dysplasia.
There are approximately 100 different kinds of ectodermal dysplasia, with symptoms that range from mild to severe. It is difficult to say how many people are affected to this disorder, however, the 1990 published data on The Birth Defects Encyclopedia estimates that 7 out of every 10,000 babies are born affected by ED.
Genetic Aspect of Ectodermal Dysplasia
The human body is composed of billions of cells and each cell has a nucleus at its center. Inside the nucleus are chromosomes that contain the hereditary material (DNA) and the genes. Ectodermal dysplasias are caused due to the alteration in genes. These altered genes may be inherited from a parent to the child during egg and sperm fertilization process.
The chances for children to be affected with ectodermal dysplasia from their parents depend on the inheritance pattern of the kind of ED that affects the family. It is therefore, desirable to consult with a geneticist or a genetic counselor to understand better about the specific ED and the probability of occurrence in any future pregnancy. Parents must ask the counselor how the ectodermal dysplasia is inherited. However, the question cannot be answered without knowing the inheritance pattern in the family.
Diagnosis, Causes, and Treatment of ED
Diagnosis
In few cases, ectodermal dysplasia is evident at birth, although somtimes the condition is not diagnosed until it is evident that the teeth are not developing normally. A correct diagnosis is very important for prognosis. Many individuals with ED are given a correct diagnosis, however, some individuals who do not fit under the defined ED category are labeled as “ectodermal dysplasia – type unknown.”
Causes of ED
All kinds of ectodermal dysplasias are heritable from one generation to the next. This means, parents can inherit the disease to their children. However, in case a child is the first to be affected in a family then the condition is likely to be caused due to change in DNA or gene mutation.
Treatment
There is no cure for ED, however, several treatment options are available to address the symptoms. Researches are being done in order to understand how different genes are involved in causing the disorder and what could be done in future to treat the problem.
References:
(Web): ABOUT ECTODERMAL DYSPLASIAS – https://nfed.org/index.php/about_ed/about-ectodermal-dysplasias
(Web): Ectodermal Dysplasia – https://emedicine.medscape.com/article/1110595-overview
