Occult Breast Cancer due to Multiple Calcified Hamartomas in a Patient with Cowden Syndrome

Abstract EN

Cowden syndrome (CS) is an autosomal dominant disorder characterized by presence of multiple hamartomas, and other benign and malignant abnormalities of the breasts, skin, thyroid, endometrium, gastrointestinal tract, and central nervous system.

Hamartomas are benign, developmentally disorganized tumors that can develop in any of the above mentioned organs.

The presence of massive calcifications in the breasts in very young women is an indication to perform a breast MRI to exclude a neoplasm since, like in the current case report, presence of breast calcifications may obscure a neoplasm.

Although fibrocystic disease and cooccurrence of fibrocystic disease and breast cancer are much more common than CS, the presence of massive calcifications in the breasts of very young women should elicit the possibility of an underlying genetic disease.

Furthermore, breast cancer and macrocephaly are considered major criteria for the diagnosis of CS and the combination of both is enough to establish the clinical diagnosis of this entity.

Fibrocystic disease of the breasts and multinodular goiter are minor criteria.

Family history is also important for the diagnosis of (any) hereditary disease.