Mucosal Neuromas

A 7 year old boy presented with multiple painless tongue nodules, developmental delay, and marfanoid habitus. Biopsies confirmed mucosal neuromas, prompting suspicion of multiple endocrine neoplasia type 2B (MEN2B). Genetic testing revealed a pathogenic RET mutation. Elevated calcitonin levels and thyroid nodules led to a diagnosis of medullary thyroid microcarcinoma, necessitating total thyroidectomy and neck dissection. Early recognition of mucosal neuromas a hallmark of MEN2B was critical for timely intervention and improved prognosis.

A 7 year old boy presented with multiple painless tongue nodules, developmental delay, and marfanoid habitus. Biopsies confirmed mucosal neuromas, prompting suspicion of multiple endocrine neoplasia type 2B (MEN2B). Genetic testing revealed a pathogenic RET mutation. Elevated calcitonin levels and thyroid nodules led to a diagnosis of medullary thyroid microcarcinoma, necessitating total thyroidectomy and neck dissection. Early recognition of mucosal neuromas a hallmark of MEN2B was critical for timely intervention and improved prognosis.