Hypohidrotic ectodermal dysplasia (HED), also known as anhidrotic ectodermal dysplasia, is a rare genetic disorder that affects the development and function of certain structures derived from the ectoderm. The ectoderm is the outermost layer of embryonic tissue that gives rise to various body parts such as the skin, hair, nails, teeth, and sweat glands.
Individuals with HED often present with a characteristic set of symptoms including sparse, thin, or absent hair, abnormal teeth development, and an inability to sweat or reduce body temperature properly. These symptoms are caused by anomalies in the development of eccrine sweat glands, as well as abnormalities in tooth germs and hair follicles formation.
HED is typically an X-linked recessive disorder, meaning that the mutated gene responsible for the condition is located on the X chromosome. As a result, males are more severely affected than females, who can be carriers of the condition.
Treatment for HED primarily involves managing the symptoms. Special dental care, such as dentures or implants, can help address tooth abnormalities, while wigs or other hair replacement methods might be used to manage hair loss. Individuals living with HED should also take precautions in maintaining a stable body temperature, as the inability to sweat can lead to heat intolerance and overheating.
While HED is a lifelong condition, individuals with the disorder can lead fulfilling lives by managing their symptoms and addressing any secondary health concerns that may arise. Genetic counseling is strongly recommended for individuals at risk of having a child with HED to understand their reproductive options and potential risks.
