Multiple endocrine neoplasia type 2B: A report of a rare case

Deepak Singh Ningombam1, Potsangbam Aparnadevi2, Doddabasavaiah Basavapur Nandini2

  • 1Department of Oral Medicine and Radiology, Dental College, Regional Institute of Medical Sciences, Imphal, Manipur, India.

Insights

Multiple endocrine neoplasia type 2B (MEN2B), or mucosal neuroma syndrome, presents with oral symptoms like neuromas. Early diagnosis is crucial for managing associated thyroid cancer and pheochromocytoma.

Area of Science:

  • Genetics and Endocrinology
  • Oncology
  • Oral Medicine

Background:

  • Multiple Endocrine Neoplasia type 2 (MEN2) is a genetic disorder caused by RET proto-oncogene mutations.
  • MEN2 is characterized by medullary thyroid carcinoma, pheochromocytoma, and specific physical features.
  • MEN type 2B, also known as mucosal neuroma syndrome, often has early oral manifestations.

Observation:

  • Oral mucosal neuromas can be the initial presenting sign of MEN2B.
  • This case involves a 43-year-old male with diagnosed mucosal neuromas.
  • The patient has a prior history of thyroidectomy for medullary carcinoma.

Findings:

  • The patient's presentation highlights the significance of oral findings in diagnosing MEN2B.
  • The presence of mucosal neuromas alongside a history of medullary thyroid carcinoma is consistent with MEN2B.

Implications:

  • Early identification of MEN2B through oral examination is vital for timely management of life-threatening conditions.
  • Prompt diagnosis facilitates screening and treatment of associated endocrine tumors, improving patient outcomes.
  • This case underscores the importance of recognizing oral manifestations as potential indicators of systemic disease.

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