Cutaneous melanoma in Birt-Hogg-Dubé syndrome – part of the clinical spectrum?

Abstract

Birt-Hogg-Dubé syndrome (BHDS) is a rare genetic disorder caused by mutations in the FLCN gene. Clinically, BHDS is highly heterogeneous even within the same family. The most characteristic features of BHDS are fibrofolliculomas, lung cysts that confer the risk of pneumothorax, and benign or malignant renal tumours. Additionally, several other tumours are discussed to be possibly linked to BHDS including colon and breast cancer, thyroid tumors, and parathyroid adenomas.

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