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Birt-Hogg-Dubé syndrome: awareness is important!
  1. Rui Caetano Oliveira1,
  2. Edgar Tavares1,
  3. Vítor Sousa2,
  4. Arnaldo Figueiredo1
  1. 1Department of Pathology, Hospitais da Universidade de Coimbra, Coimbra, Portugal
  2. 2Coimbra’s Medical College, Coimbra’s Hospital and Universitary Center, Coimbra, Portugal
  1. Correspondence to Dr Rui Caetano Oliveira, ruipedrocoliveira{at}


Birt-Hogg-Dubé (BHD) is a rare syndrome of inherited renal cell carcinomas, characterised by cutaneous lesions and pulmonary cysts and pneumothorax in a vast majority of the patients. Awareness of this syndrome is important in order to refer patients for genetic counselling and personalised follow-up as soon as possible. We describe a case of a 30-year-old female referred to our institution due to incidental discovery of solid bilateral renal masses. Renal biopsies were consistent with chromophobe tumour, and bilateral nephrectomy was performed. Gross examination revealed deformed kidneys with 28 brown and solid lesions, size variable between 0.1 and 6 cm, histologically corresponding to renal cell carcinomas, chromophobe type. Genetic test was required that showed a c.573delGAinsT frameshift mutation in heterozigosity at the folliculin gene, consistent with BHD diagnosis.

  • oncology
  • urological cancer
  • pathology
  • urology

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  • Contributors Conception and design or acquisition of data or analysis and interpretation of data: RCO and ET; drafting the article or revising it critically for important intellectual content: RCO, ET and VS; final approval of the version to be published: VS and AF.

  • Competing interests None declared.

  • Patient consent Obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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