Answer: Pop Quiz #3

NS PopQuiz#3

Correct Answer:  1. FLCN

Explanation: The figure illustrates fibrofolliculomas seen in Birt-Hogg-Dube syndrome. The syndrome features autosomal dominant inheritance, multiple fibrofolliculomas, trichodiscomas, lipomas, oral fibromas, renal cell carcinoma, medullary thyroid carcinoma, and colon cancer. Patients are at risk for pulmonary cysts and spontaneous pneumothoraces. The association mutation is FLCN (folliculin gene). The other mutations are found in Familial cylindromatosis (CYLD), Muir-Torre (MSH2), Cowden/PTEN hamartoma syndrome and Bannayan-Riley-Ruvalcaba syndrome (PTEN), and Multiple endocrine neoplasia (MEN) type I or Werner syndrome (Menin).

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