BMC Med Genomics 2022 04 15;15(1):85. Epub 2022 Apr 15.
Discipline of General Surgery of Urgency and Digestive System, Department of Surgery I, Faculdade de Medicina Do ABC, Avenida Lauro Gomes, 2000, Santo André, São Paulo, CEP 09060-870, Brasil.
In this comment, we highlight the diagnosis of Birt-Hogg-Dubé (BHD) in a 60-year-old man was made from identification and removal of normochromic papular cutaneous lesions whose histological examination indicated trichodyscomas and which are considered equivalent to fibrofolliculomas, presence of bilateral renal mass suggestive of angiomyolipomas by imaging exams. A benign/likely benign variant of FLCN in the intron 13 was also detected. Still, his previous pathological history presented other relevant data such as the prior removal of vocal cord angioma, total thyroidectomy, and left parotidectomy due to a cystic lesion whose histopathological examination revealed the presence of oncocytoma and lipomatosis, in addition to basal cell cutaneous carcinoma. Read More