Anhidrotic ectodermal dysplasia (AED), also known as hypohidrotic ectodermal dysplasia, is a rare genetic disorder that affects the development and function of several parts of the body. This condition primarily affects the ectoderm, which is the outer layer of tissue during fetal development, resulting in abnormalities in the hair, teeth, and sweat glands.
Individuals with anhidrotic ectodermal dysplasia typically have sparse or absent hair, including eyebrows and eyelashes. The teeth can also be affected, with missing or poorly developed teeth, as well as dental abnormalities such as misalignment. Furthermore, people with AED often have few or no sweat glands, resulting in reduced or absent sweating ability, which can lead to heat intolerance and a higher risk of overheating.
Other features commonly associated with this condition include dry, thickened skin, especially on the palms and soles, as well as an increased susceptibility to respiratory tract infections and other health issues.
Anhidrotic ectodermal dysplasia is caused by mutations in genes that are essential for the development of ectodermal tissues, specifically the EDA, EDAR, and EDARADD genes. These mutations disrupt the normal formation and functioning of structures derived from the ectoderm.
Management of anhidrotic ectodermal dysplasia often involves supportive care and addressing specific symptoms. This may include dental interventions, such as the use of dentures or dental implants, as well as measures to prevent overheating or manage skin and respiratory infections. Genetic counseling may also be recommended for affected individuals and their families to understand the inheritance patterns and explore options for family planning.
