Familial thyroglossal duct cyst

Disease Overview

Familial thyroglossal duct cyst is a rare hereditary form of a benign congenital neck mass, known as a thyroglossal duct cyst (TDC). TDC is the most common congenital midline neck mass in the pediatric population.[11521] They usually present in children, around 6 years of age, but rarely, they may present in adulthood.[11522] They present as a painless, palpable mass that develops around the midline and moves with swallowing. Other symptoms might include: fluctuation in size of mass, dysphagia, infection of mass, and mid-neck tenderness.[11521] TDCs are caused by abnormal development of the thyroid gland in fetal development.[11522] The cause of this abnormal development is largely not known and usually sporadic; however, in rare circumstances TDCs can be inherited. Familial TDC are commonly inherited in an autosomal dominant pattern with rare reports of autosomal recessive inheritance.[11523][11524] Treatment involves surgery to remove the cyst (mass).[11521]

Synonyms

• Thyroglossal duct cysts
• Thyroglossal duct cysts familial
• Hereditary thyroglossal duct cysts