Ectodermal Dysplasia is a group of related conditions that presents defects in the hair, teeth, nails or the sweat gland function. Depending on the type of this genetic disorder, the other systems that can also become affected include the eyes, inner ear, mouth, lips and central nervous system. This disorder is usually present from the birth of the infant and affects the ectoderm development, which is the outermost layer of the cells, during the embryonic stage. As a result, this disorder occurs when a certain system of the ectoderm fails to develop normally.
Causes
This can develop as the result of a mutation that is inherited or that occur during conception. There is more than 180 ED identified and are based on the specific symptoms that occur in the affected individual. One of the common types of ED affects the male population more than the females as it is an X-linked type of hypohidrotic ED. The inheritance pattern can vary depending on the specific type of ED and can include autosomal dominant, X-linked dominant or recessive, autosomal recessive and spontaneous mutations.
Symptoms
Each type of ED has its own specific symptoms. However, the five parts of the body that usually present abnormalities include the hair, nails, skin, sweat glands and the teeth. The hair may be missing or sparse, the nails could be thick or thin, the skin may look thin prone to infections, sweat glands not functioning properly and teeth that may be missing or wide spaced. The other body parts that can be affected include the ears with hearing problems, eyes lacking tears, missing or fused digits, nose with thick mucus secretion and sparse saliva. Additional medical conditions can include gastrointestinal problems, cleft lip and palate, allergies, growth issues, infertility and respiratory system problems.
Diagnosis
The clinical diagnosis of ectodermal dysplasia can be based on the medical signs they exhibit along with the symptoms that are apparent. The family history of the individual is important to identify the inheritance pattern which can be essential for proper diagnosis. In some cases, the ED may be evident at the birth of the infant while in other cases it may be suspected when the child starts to exhibit various related abnormalities such as failure in the development of the teeth. Once a certain type of ED is suspected, genetic testing can help in confirming the diagnosis. However, not all the ED types of genetic mutation have been identified and the genetic testing is only available for around 60 types of this disorder.
Treatment
There is no treatment for ectodermal dysplasia. The disorder is usually managed by the treatment of various symptoms that are evident in the different cases. Individuals with abnormal sweat glands should maintain a normal body temperature with the air conditioner or cooling water baths. Artificial tears may be beneficial to prevent the damage to the cornea in the cases with defective tear problems. In the case of missing teeth, orthodontia may be required and saline irrigation of the nasal mucosa may be necessary to prevent infections. Most of the individuals with this disorder can continue to live a productive life once they are able to effectively manage their symptoms.
References
http://www.ectodermaldysplasia.org/whatised.php
http://www.dermnetnz.org/topics/ectodermal-dysplasia/