Hypohidrotic ectodermal dysplasia
(Redirected from Hypohidrotic ectodermal dysplasia X-linked)
Hypohidrotic ectodermal dysplasia
Hypohidrotic ectodermal dysplasia (HED) is a rare genetic disorder that primarily affects the development of the skin, hair, nails, teeth, and sweat glands. It is one of the many types of ectodermal dysplasia.
Signs and Symptoms[edit | edit source]
Individuals with HED typically exhibit the following characteristics:
- **Hypohidrosis**: Reduced ability to sweat due to underdeveloped or absent sweat glands, leading to difficulty in regulating body temperature.
- **Hypotrichosis**: Sparse, thin, and light-colored hair on the scalp and body.
- **Dental abnormalities**: Missing teeth (hypodontia) or teeth that are pointed or cone-shaped.
- **Facial features**: Distinctive facial features including a prominent forehead, thin lips, and a flattened bridge of the nose.
- **Skin**: Dry, thin skin that may be prone to eczema or infections.
Genetics[edit | edit source]
HED is most commonly inherited in an X-linked recessive pattern, which means the gene responsible for the condition is located on the X chromosome. Males are more frequently affected because they have only one X chromosome. Females with one affected X chromosome are typically carriers and may exhibit milder symptoms. The condition can also be inherited in an autosomal recessive or autosomal dominant manner, though these forms are less common.
Diagnosis[edit | edit source]
Diagnosis of HED is based on clinical evaluation, family history, and genetic testing. The characteristic features of the disorder often lead to a clinical diagnosis, which can be confirmed by identifying mutations in the EDA, EDAR, or EDARADD genes.
Management[edit | edit source]
There is no cure for HED, but management focuses on alleviating symptoms and improving quality of life. This may include:
- **Temperature regulation**: Measures to prevent overheating, such as air conditioning, cooling vests, and frequent hydration.
- **Dental care**: Use of dentures, dental implants, or other dental prosthetics to address missing or abnormal teeth.
- **Skin care**: Moisturizers and other treatments to manage dry skin and prevent infections.
- **Genetic counseling**: For affected individuals and their families to understand the inheritance pattern and risks for future offspring.
Epidemiology[edit | edit source]
HED is a rare condition, with an estimated prevalence of 1 in 10,000 to 1 in 100,000 live births. It affects individuals of all ethnic backgrounds.
See Also[edit | edit source]
References[edit | edit source]
External Links[edit | edit source]
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