MEN 2B masquerading as chronic blepharitis and euryblepharon

This is a retrospective case description of a single male patient found to have multiple endocrine neoplasia syndrome type 2B (MEN 2B). At the age of 14, he presented for evaluation of ocular irritation and eyelid thickening. Intraoperative assessment revealed mucosal lesions on the anterior dorsum...

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Bibliographic Details
Published in:Orbit (Amsterdam) 2019-12, Vol.38 (6), p.514-518
Main Authors: Huggins, Alison B, Carrasco, Jacqueline R, Eagle, Jr, Ralph C
Format: Article
Language:English
Subjects:
Adolescent
Blepharitis - diagnosis
Carcinoma, Neuroendocrine - diagnosis
Carcinoma, Neuroendocrine - surgery
Chronic Disease
Cornea - innervation
Eyelid Neoplasms - diagnosis
Eyelids - pathology
Humans
Male
Multiple Endocrine Neoplasia Type 2b - diagnosis
Neuroma - diagnosis
Retrospective Studies
Thyroid Neoplasms - diagnosis
Thyroid Neoplasms - surgery
Thyroidectomy
Trigeminal Nerve - pathology
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Summary:This is a retrospective case description of a single male patient found to have multiple endocrine neoplasia syndrome type 2B (MEN 2B). At the age of 14, he presented for evaluation of ocular irritation and eyelid thickening. Intraoperative assessment revealed mucosal lesions on the anterior dorsum of his tongue and biopsy of multiple eyelid lesions disclosed bilateral submucosal neuromas, leading to the diagnosis of MEN 2B. MEN 2B is a potentially life-threatening syndrome due to the risk of developing medullary thyroid carcinoma (MTC) and pheochromocytoma. The patient was found to have MTC requiring thyroidectomy. We hope to highlight the clinical and histopathologic findings of MEN 2B in an effort to emphasize the importance of its identification in the absence of a family history.
ISSN:0167-6830
1744-5108
DOI:10.1080/01676830.2019.1567800