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Published on: September 12, 2019
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.
Abstract:
Multiple endocrine neoplasia type 2 (MEN2) is caused by RET proto-oncogene mutations and characterized by the presence of medullary carcinoma of the thyroid, pheochromocytoma, marfanoid features and mucosal neuromas of the tongue, lips, inner cheeks and inner eyelids. MEN type 2B is also known as mucosal neuroma syndrome. Oral presentations are sometimes the earliest signs of this condition. Early identification of this syndrome is important because affected patients often develop medullary thyroid carcinoma and pheochromocytoma. This article reports a 43-year-old male patient with mucosal neuromas and previous history of thyroidectomy due to medullary carcinoma.
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.

