Familial thyroglossal duct cyst is a rare genetic disorder that affects the development of the thyroid gland. It is caused by a mutation in the PAX8 gene, which is responsible for the development of the thyroid gland. The mutation causes the thyroid gland to form abnormally, resulting in a cyst in the thyroglossal duct, which is a tube that connects the tongue to the thyroid gland. Symptoms of familial thyroglossal duct cyst can include a lump in the neck, difficulty swallowing, and difficulty breathing. Treatment typically involves surgical removal of the cyst.

The most common symptom of familial thyroglossal duct cyst is a lump or swelling in the middle of the neck. Other symptoms may include:

-Pain or discomfort in the neck

-Difficulty swallowing

-Hoarseness
-Coughing
-Difficulty breathing
-Fever
-Swollen lymph nodes in the neck
-Redness or tenderness in the area of the lump

Familial thyroglossal duct cysts are caused by a genetic mutation that affects the development of the thyroid gland. This mutation causes the thyroid gland to form abnormally, resulting in a cyst in the thyroglossal duct. The exact cause of the mutation is unknown, but it is believed to be inherited in an autosomal dominant pattern.

The primary treatment for familial thyroglossal duct cyst is surgical removal of the cyst. This is typically done through a procedure called a thyroglossal duct cyst excision. During this procedure, the cyst is removed along with the thyroglossal duct and any associated tissue. The procedure is usually done under general anesthesia and typically takes about an hour. After the procedure, the patient may need to take antibiotics to prevent infection. In some cases, a drain may be placed to help with drainage of any fluid that may accumulate. In rare cases, radiation therapy may be used to treat the cyst.

1. Family history of thyroglossal duct cysts
2. Congenital anomalies of the thyroid gland
3. Previous neck surgery
4. Inflammation of the thyroid gland
5. Trauma to the neck
6. Congenital anomalies of the neck
7. Congenital anomalies of the tongue
8. Congenital anomalies of the hyoid bone

Familial thyroglossal duct cysts are usually treated with surgical removal. Medications are not typically used to treat this condition.