Also known as MEN (multiple endocrine neoplasia) type 2b or 3, this syndrome is just one of several of the endocrine neoplasias. Other manifestations include a marfanoid habitus, thickened corneal nerves, skeletal abnormalities, diffuse alimentary tract ganglioneuromatosis, medullary thyroid carcinoma (MTC), and pheochromocytoma (PHEO). Inheritance is AD or sporadic.
This disease is characterized by multiple flesh-colored papules (neuromas) of the tongue, conjunctiva and sclera. The lips are swollen and bumpy and the tongue may be covered with numerous 2-6 mm neuromas anteriorly and on the top. Onset is in early childhood.
There should be early and aggressive screening for MTC and PHEO. The urine can be analyzed for calcitonin (MTC) and catechols (PHEO).
Ann Dermatol. 2010 Nov;22(4):452-455
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