Background

Cowden syndrome (CS) is a rare but underdiagnosed autosomal dominant condition also known as "multiple hamartoma-neoplasia syndrome." Patients have multiple tricholemmomas (a type of benign skin appendage tumor) and oral papillomatosis and cutaneous keratoses. They often have goiter, gastrointestinal polyps, and hamartomatous soft tissue lesions. Breast cancer affects approximately one third of women with CS. Lhermitte-Duclos disease (LDD) is a peculiar proliferation of abnormal neuronal elements of the cerebellum that has features of a hamartoma and of a neoplasm.

Methods

The authors described two patients who have both CS and LDD. Also reviewed were 50 of approximately 62 previously described cases of LDD (identified through literature searches) in an effort to find patients with LDD who had other associated lesions.

Results

Only one other patient in whom both LDD and CS were recognized has been reported. In addition, a number of patients with LDD who had other neoplasms and/or thyroid lesions have been described.

Conclusions

Given the rarity of these two entities, we believe that their association is not fortuitous. LDD fits into the concept of CS as a hamartoma-neoplasia syndrome. In addition, a number of patients with LDD who had other neoplasms or thyroid lesions have been reported, raising the possibility that CS and LDD are more closely linked than is generally appreciated. We suspect that there are more patients with LDD who have unrecognized CS. Patients with either of the two diseases should be examined and followed up for evidence of the other.