Autosomal recessive hypohidrotic ectodermal dysplasia (AR-HED) is a rare genetic disorder that affects the development of the skin, hair, teeth, and sweat glands. People with AR-HED have sparse or absent scalp and body hair, dry skin, and missing or malformed teeth. They also have difficulty sweating, which can lead to overheating and other health problems. AR-HED is caused by mutations in the EDA, EDAR, or EDARADD genes. Treatment typically involves managing the symptoms and complications of the disorder.

The symptoms of Autosomal recessive hypohidrotic ectodermal dysplasia include:

-Dry, sparse hair
-Thin, sparse eyebrows and eyelashes
-Abnormal teeth development
-Abnormal sweat gland development
-Abnormal nail development
-Abnormal skin texture
-Frequent skin infections
-Frequent respiratory infections
-Frequent ear infections
-Frequent sinus infections
-Frequent eye infections
-Frequent colds
-Frequent fever
-Frequent dehydration
-Frequent fatigue
-Frequent headaches
-Frequent muscle and joint pain
-Frequent abdominal pain
-Frequent constipation
-Frequent diarrhea
-Frequent vomiting
-Frequent weight loss
-Frequent growth delays
-Frequent learning disabilities
-Frequent speech

Autosomal recessive 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 hypohidrotic ectodermal dysplasia.

1. Oral rehydration therapy: This involves providing the patient with fluids and electrolytes to replace those lost through excessive sweating.

2. Topical medications: These medications can help to reduce the amount of sweat produced by the body.

3. Surgery: In some cases, surgery may be necessary to correct the underlying cause of the condition.

4. Skin grafts: Skin grafts may be used to replace missing or damaged skin.

5. Artificial tears: Artificial tears can help to keep the eyes moist and reduce the risk of infection.

6. Wearing protective clothing: Wearing protective clothing can help to reduce the amount of sweat produced by the body.

7. Humidifiers: Humidifiers can help to keep the air moist and reduce the amount of sweat produced by the body.

1. Family history of Autosomal recessive hypohidrotic ectodermal dysplasia
2. Consanguinity (closely related parents)
3. Mutations in the EDA, EDAR, or EDARADD genes
4. Exposure to certain environmental toxins or medications during pregnancy

There is no cure for autosomal recessive hypohidrotic ectodermal dysplasia, but there are treatments available to help manage the symptoms. These treatments may include medications to help with skin hydration, antibiotics to treat infections, and surgery to correct facial deformities. Additionally, physical and occupational therapy may be recommended to help with motor skills and speech development.