Hypohidrotic Ectodermal Dysplasia
What is it?
Hypohidrotic ectodermal dysplasia (HED) is a rare genetic disorder that affects the development of ectodermal structures such as hair, teeth, nails, and sweat glands. It is caused by mutations in genes that regulate the development of ectodermal structures during embryonic development.
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Additional names
This group contains additional names:
- HED
Signs & symptoms
Symptoms of HED can vary widely but typically include sparse hair, absent or malformed teeth, and reduced or absent sweating, which can lead to recurrent fevers and heat intolerance. Other common features may include dry skin, reduced or absent tears, and abnormal nail growth. HED can also affect other organs, such as the eyes, ears, and respiratory system.
Diagnosis
Diagnosis of HED is typically made through a combination of clinical examination, family history, and genetic testing. A skin biopsy or imaging studies may also be performed to assess the extent of sweat gland development.
Treatment
There is no cure for HED, and treatment is typically focused on managing symptoms and preventing complications. This may include regular dental care, artificial tears, moisturizers for dry skin, and cooling strategies to prevent overheating. In some cases, hair transplantation or cosmetic dentistry may be recommended to improve appearance and quality of life.
Genetic counseling is important for individuals with HED and their families, as it can provide information about the risk of passing the condition on to future generations. In some cases, prenatal testing may be available for couples with a family history of HED who are planning to have children.
☝️ This is not a substitute for professional medical advice. Please consult with your physician before making any medical decision.
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