Multiple Endocrine Neoplasia Type IIA with Cutaneous Lichen Amyloidosis

Abstract

A bstrAct A 35-year-old woman presented with episodic abdominal pain associated with palpitation and frontal headache. Physical examination revealed thyroid nodule along with itchy scapular cutaneous lesions suspicious of cutaneous lichen amyloidosis (CLA). Biochemical and imaging workup showed bilateral adrenal lesions with positive 24-hour urinary metanephrine/normetanephrine levels and fine needle aspiration cytology (FNAC) of the thyroid nodule confirmed medullary thyroid carcinoma (MTC) of the thyroid. Bilateral pheochromocytoma with MTC and CLA prompted us for targeted genetic testing for codon 634 in rearranged during transfection (RET) gene which confirmed the diagnosis of multiple endocrine neoplasia type IIA (MEN IIA) CLA variant. The patient underwent bilateral cortical-sparing open adrenalectomy followed by total thyroidectomy with central compartment neck dissection and bilateral modified radical neck dissection. Of her four asymptomatic children, two were found to harbor the mutation and are being managed appropriately. High index of suspicion with detailed history and thorough clinical examination can help us perform targeted genetic testing and appropriate management in resource-constrained settings.