A 19 year old man with multiple endocrine neoplasia type 2 (MEN2B) presented for follow-up at the endocrine clinic.
The patient had a characteristic MEN2B phenotype; tongue lesions (fig 1), tall stature, high arch palate, and pectus carinatum—which had been noted from age 2. The MEN2B diagnosis, however, had not been made until age 14, when he presented with a goitre. Biochemical evaluation found elevated calcitonin, and he underwent total thyroidectomy, with pathology confirming medullary thyroid carcinoma. Genetic testing confirmed a germline RET mutation M918T, and the diagnosis of MEN2B was made. At age 15, he was noted to have an adrenal mass, diagnosed as pheochromocytoma, and he underwent unilateral adrenalectomy.
Differential diagnosis for similar tongue lesions in children include granular cell tumour, mucocele, fibromas, neurofibromas, and varicella zoster virus. Recognition of mucosal neuromas as a feature of MEN2B could have facilitated an earlier diagnosis in this patient. In addition, routine surveillance for pheochromocytoma is indicated.
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