The Birt-Hogg-Dubé syndrome (BHD) is an inherited autosomal dominant genodermatosis caused by mutations of the folliculin (FLCN) gene. Patients present with fibrofolliculomas (5 are pathognomonic), pulmonary cysts, and renal cancer. The relation of BHD to polyps and colorectal cancer was initially described, but this association is not currently recognized. Nevertheless, FLCN gene mutations have recently been implicated in the development of colon cancer, questioning this viewpoint. We present herein the case of a 55-year-old man that was asymptomatic and evaluated for multiple facial lesions histologically compatible with fibrofolliculomas located predominantly on the nose and cheek (Fig. 1). After BHD diagnosis, an MRI of the kidney and a chest x-ray were ordered and did not identify any pathologic findings. A fecal occult blood test was positive. Colonoscopy revealed a 3cm cecal sessile polyp (Fig. 2), and biopsy reported a tubulovillous adenoma with high-grade dysplasia that was extirpated through a right hemicolectomy. The histologic study (Fig. 3) confirmed the initial findings and the resection margins were disease-free. Despite the fact that malignant colorectal pathology screening after BHD diagnosis is recommended only if there is a family history of colorectal cancer, which was not the case with our patient, a fecal occult blood test enabled the early diagnosis of colon cancer.
The authors declare that no experiments were performed on humans or animals for this study.
Data confidentialityThe authors declare that no patient data appear in this article.
Right to privacy and informed consentThe authors declare that no patient data appear in this article.
Financial disclosureNo financial support was received in relation to this study/article.
Conflict of interestThe authors declare that there is no conflict of interest.
Please cite this article as: Martínez-Pérez A, Santos-Alarcón S, Armañanzas-Villena E, Soriano-Camacho P. Síndrome de Birt-Hogg-Dubé y pólipos en el colon. Revista de Gastroenterología de México. 2016;81:53–54.