Papules on the Eyelids, Lips, and Tongue

Mohammad Reza Mohajeri Tehrani, M.D., and Maryam Aalaa, M.Sc.
N Engl J Med 2011; 364:870 March 3, 2011

A 16-year-old boy presented with multiple flesh-colored papules and dermal nodules on his eyelids, lips, and tongue (Panels A, B, and C, respectively). Six years earlier, his mother had received a diagnosis of metastatic medullary thyroid cancer, at the age of 38 years. At that time, both of her sons were found to have markedly elevated serum calcitonin levels but no biochemical evidence of pheochromocytoma. Both boys subsequently underwent total thyroidectomy. On pathological examination, a medullary thyroid tumor measuring 0.5 cm by 0.5 cm had been discovered in the thyroid gland of this patient. This clinical history is suggestive of the multiple endocrine neoplasia type 2B syndrome, an autosomal dominant condition characterized by medullary thyroid cancer, pheochromocytoma, mucosal neuromas, intestinal ganglioneuromas, and marfanoid body habitus. Although comprehensive genotyping of the RET proto-oncogene was not available at the time of this family's presentation, such analysis now allows for highly specific screening of family members and subsequent initiation of genetic counseling, pheochromocytoma screening, and prophylactic thyroidectomy. The boy continues to receive levothyroxine replacement therapy and appropriate screening investigations.

Mohammad Reza Mohajeri Tehrani, M.D.
Maryam Aalaa, M.Sc.
Endocrinology and Metabolism Research Center of Tehran University of Medical Sciences, Tehran, Iran
mrmohajeri@sina.tums.ac.ir