Hypohidrotic ectodermal dysplasia

Hypohidrotic Ectodermal Dysplasia

File:Hypohidrotic Ectodermal Dysplasia.jpg

A child with Hypohidrotic Ectodermal Dysplasia

Hypohidrotic ectodermal dysplasia (HED) is a rare genetic disorder that affects the development and function of the teeth, sweat glands, and hair. It is one of the most common forms of ectodermal dysplasia.

Symptoms and Signs

The most common symptoms of HED include hypohidrosis (reduced ability to sweat), hypotrichosis (sparse hair), and hypodontia (missing teeth). Other symptoms may include dry skin, recurrent respiratory infections, and a distinctive facial appearance with a prominent forehead, a sunken nasal bridge, and thick lips.

Causes

HED is caused by mutations in the EDA, EDAR, or EDARADD genes. These genes are involved in the development of ectodermal tissues, which include the skin, hair, teeth, and sweat glands. The disorder is usually inherited in an X-linked recessive manner.

Diagnosis

Diagnosis of HED is based on the clinical symptoms and can be confirmed by genetic testing. Prenatal diagnosis is possible if the causative mutation in the family is known.

Treatment

There is currently no cure for HED. Treatment is symptomatic and supportive, and may include dental prosthetics, cooling measures to compensate for the inability to sweat, and treatment of respiratory infections.

Prognosis

With appropriate management, individuals with HED can lead normal lives. However, they may face challenges related to their appearance and the practical difficulties of dealing with heat.

See also

• Ectodermal dysplasia
• Genetic disorder
• X-linked recessive inheritance