Mucosal neuroma syndrome
Mucosal neuroma syndrome is probably a variant of Multiple Endocrine Neoplasia, Type II (MEN II or IIA, Sipple syndrome). Also designated Multiple Endocrine Neoplasia, Type III (MEN III or IIB), the typical features include oral, nasal, upper GI tract and conjunctival neuromas, associated with medullary thyroid carcinoma (MTC) and pheochromocytoma. Corneal nerves may be highly visible.
The appearance of the neuromas usually precedes the development of cancer, but the MTC can appear in early childhood.
The major cause of death in patients with MEN III is the MTC, as metastases are common. The pheochromocytomas are often bilateral.
Unlike MEN II, parathyroid hyperplasia is rare.
In addition to the mucosal neuromas, other abnormalities can include "blubbery " lips, a Marfanoid habitus, lax joints, kyphoscoliosis, lentigines, cafe-au-lait lesions, medullated corneal nerve fibers, diverticulosis and megacolon. Localized intense itching may be a feature in some patients.