P-19 A Case of Birt-Hogg-Dubé Syndrome Presented With Parathyroid Carcinoma

This case report discusses a 50-year-old male with Birt Hogg Dube Syndrome (BHDS), an autosomal dominant disorder caused by a mutation in the folliculin gene, who presented with parathyroid carcinoma. The patient had a complex medical history, including renal cell carcinoma, coronary artery bypass graft, pulmonary thromboembolism, hypertension, nephrolithiasis, and stage 4 chronic kidney disease. Clinical evaluation revealed hypercalcemia, elevated parathormone, and a palpable thyroid nodule, which was later identified as thyroid papillary carcinoma. Genetic testing confirmed BHDS, and the patient underwent a left inferior parathyroidectomy, with pathology confirming parathyroid carcinoma. This case is notable as it is the first reported instance of parathyroid carcinoma in a BHDS patient, suggesting a potential link between folliculin gene mutations and parathyroid cancer.