[Multiple endocrine neoplasia type 2B].

Area of Science:

• Endocrinology
• Genetics
• Oncology

Background:

• Multiple Endocrine Neoplasia type 2B (MEN2B) is a rare genetic disorder.
• It is characterized by early-onset medullary thyroid carcinoma (MTC) and later onset phaeochromocytoma.
• MTC often metastasizes before symptom onset, limiting curative treatment options.

Observation:

• Two patients presented with MEN2B phenotypes including mucosal neuromas, ptosis, marfanoid habitus, gastrointestinal issues, and alacrima.
• Diagnosis occurred at ages 15 and 10, respectively.
• Both patients already had metastatic MTC at the time of diagnosis.

Findings:

• MEN2B syndrome presents with a distinct set of physical characteristics.
• Mucosal neuromas are a consistent early indicator of MEN2B.
• Delayed diagnosis in MEN2B cases is associated with advanced metastatic disease.

Implications:

• Early identification of MEN2B phenotype is crucial for timely intervention.
• Prophylactic or curative thyroidectomy can be performed upon early diagnosis.
• Recognizing mucosal neuromas aids in early MEN2B syndrome detection and management.