Multiple Endocrine Neoplasia Type 2B: 5 Case Reports
A 5 Patient Case Series
R.B. MacIntosh DDS, Michael B. Krzemien DDS, MD, Michael Lee BS
Department of Oral and Maxillofacial Surgery
Background:
Multiple Endocrine Neoplasias (MEN) are a group of three congenital neoplasias derived embryologically from the neuroectodermal crest. They have clinical manifestations consisting of glandular, ectodermal, musculoskeletal, gastrointestinal, ophthalmic and cardiovascular disorders. Their particular manifestations have grouped them into 3 distinct syndromes, MEN 1, MEN2A and MEN2B.
Medullary thyroid carcinoma is most lethal feature and is found in MEN2A and MEN2B. MEN2B syndrome alone demonstrates significant oral and maxillofacial aberrations, which can be recognized early and aid in clinical diagnosis of the syndrome. Oro-facial findings include sessile mucosal elevations of the buccal, lingual or labial mucosae, fullness of the lips, anterior diastema, and nodular lesions of the conjunctiva or skin of the eyelids. The maxillofacial literature relating to MEN2b is not expansive. This case study hopes to shed light on the peculiars of identifying and treating patients with MEN2B.
Case Presentation:
The report reviews five separate cases of MEN2B encountered.
Discussion:
MEN2 has an estimated prevalence of 1/10,000 and MEN2B represents 5% of all MEN2 patients. While being a rare condition, clinically evident maxillofacial signs should immediately arouse suspicion of MEN2B. Early recognition should lead to proper laboratory and genetic testing, proper referral to other medical specialties, and to life sparing prophylactic thyroidectomy.
References:
- Accurso B at al: Multiple Endocrine Neoplasia-2B Presenting with Orthodontic Relapse. Angle Orthod 80:585, 2010
- Raue F et al: Genotype-Phenotype Relationship in Multiple Endocrine Neoplasia Type 2: Implications for Clinical Management. Hormones 8:1, 2009
- Wray C, et al: Failure to Recognize Multiple Endocrine Neoplasia Type 2B: More Common than We Think? Ann Surg Oncol 15: 293
- Camacho C et al: Early Diagnosis of Multiple Endocrine Neoplasia Type 2B: a Challenge for Physicians. Arq Bras Endocrinol Metab 52:1393, 2008
- Waguespack S et al: Multiple Endocrine Syndrome Type 2B in Early Childhood. Cancer 116:2284, 2010
- Ramos-Levi A, et al: Axonal Neuropathy, Long Limbs, and Bumpy Tongue: Think of MEN2B. Muscle & Nerve 46:961, 2012
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