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

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
Source :
BMC Medical Genomics. 4/15/2022, Vol. 15 Issue 1, p1-4. 4p.
Publication Year :
2022

Abstract

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. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
17558794
Volume :
15
Issue :
1
Database :
Academic Search Index
Journal :
BMC Medical Genomics
Publication Type :
Academic Journal
Accession number :
156376090
Full Text :
https://doi.org/10.1186/s12920-022-01233-9