Ectodermal dysplasia

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Obesity, Sleep & Internal medicine
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Ectodermal dysplasia
File:Ectodermal dysplasia.jpg
Synonyms	ED
Pronounce	N/A
Specialty	N/A
Symptoms	Hypohidrosis, hypotrichosis, dental abnormalities, dysplasia of nails
Complications	N/A
Onset	Birth or early childhood
Duration	Lifelong
Types	N/A
Causes	Genetic mutation
Risks	Family history
Diagnosis	Clinical examination, genetic testing
Differential diagnosis	Alopecia, ichthyosis, congenital adrenal hyperplasia
Prevention	N/A
Treatment	Symptomatic treatment, dental prosthetics, wigs
Medication	N/A
Prognosis	Variable, depending on the type
Frequency	Rare
Deaths	N/A

File:Dental abnormalities in a 5-year-old girl from north Sweden family who suffered from various symptoms of autosomal dominant hypohidrotic ectodermal dysplasia (HED).jpg

Dental abnormalities in a 5-year-old girl with autosomal dominant hypohidrotic ectodermal dysplasia

Ectodermal dysplasia is a group of genetic disorders that primarily affect the development and function of the skin, hair, nails, teeth, and sweat glands. There are more than 100 recognized forms of ectodermal dysplasia, and they can affect both males and females.

Symptoms

The symptoms of ectodermal dysplasia can vary widely from person to person. Some common symptoms include:

• Hypohidrosis (reduced ability to sweat)
• Hypotrichosis (sparse hair)
• Hypodontia (missing teeth)
• Dysplastic nails
• Skin abnormalities

Causes

Ectodermal dysplasia is caused by mutations in various genes. These mutations can be inherited from a parent or can occur spontaneously.

Diagnosis

Diagnosis of ectodermal dysplasia is based on the presence of characteristic physical features. Genetic testing can confirm the diagnosis.

Treatment

There is currently no cure for ectodermal dysplasia. Treatment is aimed at managing the symptoms and may include dental prostheses, wigs, and special clothing to protect the skin.

See also

• Genetic disorder
• Skin
• Hair
• Nails
• Teeth
• Sweat glands

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