Forme familiale de kyste du tractus thyréoglosse

Objectives

The thyroglossal duct cyst (TDC) is a frequent pathology in head and neck surgery whose diagnosis and treatment are well known. Hereditary forms are very rare. In a case report, the author describes the familial cases in the international literature and discusses the genetic inheritance patterns.

Material and method

The author reports the clinical case of a 7-year-old girl, operated on for a TDC, with a familial history of this disease. After a review of the international literature in PubMed, the features of the reported families are described and the genetic inheritance theories are discussed.

Results

This is the first report of a French familial form of TDC. Described in four members of the same family over three generations, the genetic transmission seems to follow the rules of autosomic dominant inheritance. The female preponderance suggests a genetic imprinting theory.

Conclusion

The genetic inheritance patterns of familial TDC are unclear. The dominant autosomic transmission with incomplete penetrance might be the most likely. Another theory of genetic imprinting might explain the female preponderance, but this theory remains complex and highly debated. However, the search for a familial history of TDC must be part of the initial consultation, a procedure that is not widely known among ENT surgeons.