Multiple endocrine neoplasia type 2B
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Synopsis
MEN2B usually presents in children. Mucosal neuromas are a very common finding appearing in children as young as 2 years. MTC typically develops in the first or second decade of life and may occur as early as the first year of life. MTC is marked by neck mass, lymphadenopathy, or diarrhea and flushing in advanced cases. An early history of nonspecific gastrointestinal complaints is common due to diffuse intestinal ganglioneuromas. The usual presentation of pheochromocytoma is in the second or third decade. Approximately 50% of patients will have multiple pheochromocytomas; these will often be bilateral.
Skeletal abnormalities of marfanoid body habitus are seen later in childhood. They include an elongated face and extremities, pronounced joint laxity, kyphoscoliosis, and pectus deformities.
Related topics: MEN1, MEN2a
Codes
ICD10CM:E31.23 – Multiple endocrine neoplasia [MEN] type IIB
SNOMEDCT:
61530001 – Multiple endocrine neoplasia, type 3
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Diagnostic Pearls
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Differential Diagnosis & Pitfalls
- MEN2A – MTC, pheochromocytoma, primary hyperparathyroidism; associated with cutaneous lichen amyloidosis, Hirschsprung disease.
- Familial or sporadic medullary thyroid carcinoma – Rarely present with associated conditions.
- Palisaded encapsulated neuroma – Solitary lesion on face, most commonly appearing around 40-60 years of age.
- Oral mucocele – Single translucent lesion most frequently located on lower lips.
- Marfan syndrome – Ectopia lentis, aortic abnormalities.
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References
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Last Reviewed:04/10/2017
Last Updated:01/19/2022
Last Updated:01/19/2022