Comment on Balsamo et al.: “Birt–Hogg–Dubé syndrome with simultaneous hyperplastic polyposis of the gastrointestinal tract: case report and review of the literature”

• Published in: BMC medical genomics Vol. 15; no. 1; pp. 85 - 4
• Main Authors: Balsamo, Flávia, Cardoso, Pedro Augusto Soffner, do Amaral Junior, Sergio Aparecido, Theodoro, Therésè Rachell, de Sousa Gehrke, Flavia, da Silva Pinhal, Maria Aparecida, Bianco, Bianca, Waisberg, Jaques
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 15.04.2022; BioMed Central; BMC
• Subjects: Angiomyolipoma; Asymptomatic; Biopsy; Birt-Hogg-Dube syndrome; Birt-Hogg-Dube Syndrome - complications; Birt-Hogg-Dube Syndrome - diagnosis; Birt-Hogg-Dube Syndrome - genetics; Birt–Hogg–Dubé syndrome; Cancer; Case reports; Case studies; Colorectal Neoplasms; Complications and side effects; Correspondence; Cysts; Female; FLCN gene; Gastrointestinal hyperplastic polyposis; Gastrointestinal system; Gastrointestinal tract; Genetic aspects; Health aspects; Humans; Hyperplasia; Intestinal polyps; Kidney Neoplasms - genetics; Lipomatosis; Literature reviews; Magnetic resonance imaging; Male; Middle Aged; Mutation; Patient outcomes; Patients; Pneumothorax; Polyposis; Proto-Oncogene Proteins - genetics; Risk factors; Skin; Thyroidectomy; Tumor Suppressor Proteins - genetics; Tumors; Brazil; FLCN gene; Angiomyolipoma; Gastrointestinal hyperplastic polyposis; Birt–Hogg–Dubé syndrome
• DOI: 10.1186/s12920-022-01233-9
• ISSN: 1755-8794

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. Simultaneous gastrointestinal hyperplastic polyposis was found in this patient. The case we reported does not have the genotypic and phenotypic expressions most present in BHDS. These facts make it important for readers to know the clinical and genetic presentation facets of this unusual syndrome.