About Autosomal dominant hypohidrotic ectodermal dysplasia
What is Autosomal dominant hypohidrotic ectodermal dysplasia?
Autosomal dominant hypohidrotic ectodermal dysplasia (ADHED) is a rare genetic disorder that affects the development of the skin, hair, teeth, and sweat glands. People with ADHED have fewer sweat glands than normal, which can lead to overheating and dehydration. They may also have sparse or absent hair, dry skin, and abnormal teeth. ADHED is caused by a mutation in the EDA gene and is inherited in an autosomal dominant pattern.
What are the symptoms of Autosomal dominant hypohidrotic ectodermal dysplasia?
The symptoms of Autosomal dominant hypohidrotic ectodermal dysplasia include:
-Dry, scaly skin
-Thin, sparse hair
-Abnormal teeth development
-Abnormal nail development
-Reduced sweating
-Frequent respiratory infections
-Frequent ear infections
-Frequent sinus infections
-Frequent eye infections
-Frequent skin infections
-Frequent fever
-Poor growth
-Delayed puberty
-Facial abnormalities
-Abnormalities of the hands and feet
-Abnormalities of the eyes, ears, and nose
What are the causes of Autosomal dominant hypohidrotic ectodermal dysplasia?
Autosomal dominant hypohidrotic ectodermal dysplasia is caused by mutations in the EDA, EDAR, or EDARADD genes. These genes provide instructions for making proteins that are involved in the development of the skin, hair, teeth, and sweat glands. Mutations in these genes can lead to the features of this disorder.
What are the treatments for Autosomal dominant hypohidrotic ectodermal dysplasia?
1. Oral rehydration therapy: This involves providing the patient with oral fluids to replace lost electrolytes and fluids.
2. Topical medications: These medications can help to reduce the symptoms of the condition, such as dry skin and scalp.
3. Artificial tears: Artificial tears can help to lubricate the eyes and reduce dryness.
4. Humidifiers: Humidifiers can help to increase the humidity in the air, which can help to reduce dryness.
5. Antibiotics: Antibiotics may be prescribed to treat any infections that may occur due to the condition.
6. Surgery: Surgery may be necessary to correct any facial deformities or to repair any damage to the teeth.
7. Dental care: Regular dental care is important to maintain healthy teeth and gums.
What are the risk factors for Autosomal dominant hypohidrotic ectodermal dysplasia?
1. Family history: Autosomal dominant hypohidrotic ectodermal dysplasia is an inherited disorder, so having a family history of the condition increases the risk of developing it.
2. Gender: Males are more likely to be affected by this condition than females.
3. Ethnicity: Autosomal dominant hypohidrotic ectodermal dysplasia is more common in people of European descent.
Is there a cure/medications for Autosomal dominant hypohidrotic ectodermal dysplasia?
There is no cure for autosomal dominant hypohidrotic ectodermal dysplasia, but there are treatments available to help manage the symptoms. These treatments may include medications to help with skin dryness, artificial tears to help with dry eyes, and antibiotics to help with infections. Additionally, there are various therapies available to help with the physical and psychological effects of the condition.