MEN types and associated features
MEN Type | Gene | Major extracutaneous features | Cutaneous features |
1 (Wermer) | MEN1 (MENIN) | - Pituitary neoplasia (e.g. prolactinoma) - Parathyroid hyperplasia/adenoma - Pancreatic islet cell hyperplasia/adenoma/carcinoma | - Multiple facial angiofibromas - Collagenomas, lipomas - Multiple gingival papules - Guttate hypopigmented macules |
2A (Sipple) | RET (especially codon 634) | - Parathyroid hyperplasia/adenoma - Thyroid medullary carcinoma - Adrenal pheochromocytomas | Pruritus/notalgia paresthetica → macular or lichen amyloidosis on the upper back (often with childhood onset) |
2B (multiple mucosal neuroma syndrome) | RET (especially codon 918) | - Thyroid medullary carcinoma - Adrenal pheochromocytoma - GI ganglioneuromatosis - Marfanoid habitus | Multiple mucosal neuromas (especially on eyelid margins/conjunctiva, lips, tongue; rarely neuromas of perinasal skin) |
Multiple collagenomas
- Found in MEN 1
Mucosal neuromas
- Characteristics:
- They present as flesh-colored papules or nodules, painless, typically affecting the tip and lateral borders of the tongue.
- Evolution:
- They usually appear in childhood or early adolescence and increase in number over time.
- Associated Systemic Disease
- The presence of multiple mucosal neuromas is the earliest and most distinctive clinical sign of Multiple Endocrine Neoplasia Syndrome Type 2B (MEN 2B).
- This syndrome is a serious genetic condition associated with the following pathologies:
- Medullary Thyroid Carcinoma (MTC):
- The most dangerous complication. It occurs in virtually 100% of patients and is usually very aggressive, appearing at early ages.
- Pheochromocytoma:
- Tumors in the adrenal glands that can cause severe hypertensive crises.
- Marfanoid habitus:
- Patients are typically tall, thin, with long limbs and joint hypermobility.
- Intestinal ganglioneuromatosis:
- Can cause chronic constipation or megacolon from childhood.
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