Endocrine Abstracts

Background: Birt–Hogg–Dubé (BHD) syndrome has been reported to be associated with neoplastic conditions. Its association with thyroid carcinoma has been reported but remains controversial. Here we report the case of a BHD patient with a thyroid papillary carcinoma.

Case report: A 47-year-old man presented with asymptomatic facial papules, which had been gradually increasing in number for 6 years. A biopsy was taken from a papule on the nose and histology examination showed epithelial proliferation. Mutation in exon 4 of FLCN was identified which confirmed the diagnosis of BHDS. A systematic ultrasound examination of his neck showed a 2 cm solid isoechoic nodule of the right thyroid lobe. The left thyroid lobe and the isthmus appeared to be normal. Serum levels of free thyroxine, and thyrotrophin were within normal ranges. Fine needle aspiration of the nodule revealed papillary clusters that had atypical nuclei and intranuclear inclusions and that appeared to be a papillary carcinoma. Our patient underwent a total thyroidectomy with neck exploration. The pathologic examination confirmed the diagnosis of papillary carcinoma classified T1NXMX. The patient was put on L-thyroxine and a radioiodine therapy will be considered.

Discussion: Birt–Hogg–Dubé syndrome consists of multiple fibrofolliculomas traditionally associated with trichodiscomas and acrochordons. Medullary carcinoma of the thyroid was the most reported type of cancers. Eventhough, other types of carcinoma as papillary carcinoma et carcinoma were not the common form of BHD syndrome could also occur. Our report is of high scientific interest because it will increase awareness of BHD in the medical community, as this syndrome is too often overlooked even when obvious clinical manifestations are present. So the neck ultrasound is recommended for BHD patients and family members. Among others BHD patients followed in our hospital, we will look for the frequency and results of ultrasounds.