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MEN 2B masquerading as chronic blepharitis and euryblepharon
Alison B Huggins1, Jacqueline R Carrasco2, Ralph C Eagle3
1Ophthalmology Department, Wills Eye Hospital of Thomas Jefferson University , Philadelphia , PA , USA.
Orbit (Amsterdam, Netherlands)
|January 29, 2019
Summary
This case report details a patient diagnosed with Multiple Endocrine Neoplasia syndrome type 2B (MEN 2B) identified by eyelid and tongue lesions. Early identification is crucial for managing associated risks like medullary thyroid carcinoma (MTC).
Area of Science:
- Endocrinology
- Genetics
- Oncology
Background:
- Multiple Endocrine Neoplasia syndrome type 2B (MEN 2B) is a rare genetic disorder.
- It predisposes individuals to developing specific tumors, including medullary thyroid carcinoma (MTC) and pheochromocytoma.
- Early diagnosis is critical for effective management and improved patient outcomes.
Observation:
- A 14-year-old male presented with ocular irritation and eyelid thickening.
- Intraoperative findings included mucosal lesions on the tongue and eyelid biopsies revealed bilateral submucosal neuromas.
- These clinical and histopathological findings led to the diagnosis of MEN 2B.
Findings:
- The patient was diagnosed with MEN 2B based on characteristic clinical and histopathological findings.
- Further investigation confirmed the presence of medullary thyroid carcinoma (MTC).
- The patient required a thyroidectomy for MTC management.
Implications:
- This case highlights the importance of recognizing MEN 2B manifestations, even in the absence of a family history.
- Prompt diagnosis and management of MEN 2B can mitigate risks associated with MTC and other associated endocrine tumors.
- Emphasizes the need for vigilance in identifying submucosal neuromas and other subtle signs suggestive of MEN 2B.
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