Thyroglossal Duct Cyst, Familial

Description

Thyroglossal duct cysts are common benign cervical masses. They represent a remnant of the thyroglossal duct that fails to regress during fetal development. Nearly all cases present sporadically in young children as slowly enlarging midline neck mass (summary by Greinwald et al., 1996).

Clinical Features

Millikan et al. (1980) reported the condition in a mother, 2 daughters, 1 granddaughter, and 2 great-granddaughters. Two family branches were involved, and there were also other associated thyroid diseases, namely, hypothyroidism and thyroid cancer.

Issa and deVries (1991) reported 2 female sibs, aged 2 and 6 years, with thyroglossal duct cysts and a history of thyroid diseases on the maternal side. The maternal grandmother had autoimmune hypothyroidism (Hashimoto disease; 140300) and the maternal grandfather died of anaplastic carcinoma of the thyroid gland.

Castillo-Taucher and Castillo (1994) reported thyroglossal duct cysts in a father and daughter. The father was asymptomatic until 54 years of age, when an inflammatory mass appeared in the front middle part of his neck. Pathologic examination of the excised specimen confirmed the diagnosis. Late clinical manifestations might escape detection and could explain many undiagnosed cases.

Greinwald et al. (1996) and Schader et al. (2005) found that most reported cases of familial thyroglossal duct cyst are female.

Inheritance

From a review of the medical literature, Greinwald et al. (1996) and Schader et al. (2005) found that most cases of familial thyroglossal duct cysts show a pattern of autosomal dominant inheritance with incomplete penetrance.

Ashworth (1979) reported the disorder in 3 consecutive generations--a grandmother, mother, and daughter.

Klin et al. (1993) described a Moslem Arab family with healthy second-cousin parents in which 3 sibs were affected. In a second family, a father and son were affected.