RECENT UNDERSTANDING OF ECTODERMAL DYSPLASIA

The Ectodermal dysplasia (ED) is a rare hereditary disorder involving absence or deficiency of structures derived from ectoderm. Ectodermal dysplasia is caused by the mutation or deletion of certain genes located on different chromosomes. More than 200 EDs have been described. Signs of ED comprising abnormal hair (Atrichosis/Hypotrichosis), abnormal or missing teeth (Anodontia/ Hypodontia - peg or conical shaped), abnormal nail (Onychodysplasia) and decreased or absent sweating due to a lack of sweat glands (Dyshidrosis or Hypohidrosis/ Anhidrosis). Such abnormal appearance may affect normal social and psychological development in young patients. ED can be classified into two groups i.e. Hypohidrotic ED and Hidrotic ED. Hypohidrotic ED is most prevalent. The objective of this article is to review the diagnosis and management of Ectodermal dysplasia. Areas discussed include the prevalence of disease, presentation, diagnosis, and contemporary treatment. There is also a great need for improved therapies to combat this frustrating illness.