Birt-Hogg-Dubé syndrome with simultaneous hyperplastic polyposis of the gastrointestinal tract: case report and review of the literature.
Flávia BalsamoPedro Augusto Soffner CardosoSergio Aparecido do Amaral JuniorTherésè Rachell TheodoroFlavia de Sousa GehrkeMaria Aparecida da Silva PinhalCaio P BarbosaJaques WaisbergPublished in: BMC medical genetics (2020)
To the best of our knowledge, this is the first reported case of BHDS with the simultaneous finding of gastrointestinal hyperplastic polyposis, which may represent a possible phenotypic expression of this syndrome that has not yet been described.