Endocrine Abstracts

JOINT2618

Cowden syndrome, also known as multiple hamartoma syndrome, is a rare condition with an autosomal dominant inheritance pattern, characterized by cutaneous and mucosal lesions associated with various neoplasms.

Case Presentation: This is the case of a 47-year-old woman who was admitted to our Endocrinology department in February 2024 for the management of profound hypothyroidism (FT4 = 0, TSH > 51) associated with hypocalcemia (1.6 mmol/l) resulting from the discontinuation of her replacement therapy. In her personal medical history, the patient underwent a total thyroidectomy for minimally invasive carcinoma in 2008, complicated by permanent hypoparathyroidism, and has a history of fibrocystic breast disease. On examination, macrocephaly was noted, along with cutaneous and mucosal lesions: about ten acral palmoplantar keratosis lesions and gingival papules. Cowden syndrome was therefore suspected, and further evaluation revealed a suspicious nodule in the right breast, colonic polyposis, nodular gastritis, duodenal polyposis, and endometrial thickening.

Discussion: The association of cutaneous and mucosal lesions with benign breast disease and/or thyroid, breast, and uterine neoplasms should lead clinicians to suspect Cowden syndrome, which requires a careful examination and comprehensive lesion evaluation. Diagnosis is based on the presence of major and minor pathognomonic criteria. Management is multidisciplinary, and lifelong surveillance is necessary.

Conclusion: Early diagnosis of Cowden syndrome is crucial. Genetic counseling and family investigation are mandatory as part of the management process.