endocrine and metabolic disorders
Multiple Endocrine Neoplasia, Type 2B (MEN 2B)
Symptoms and Signs of MEN 2B
). About 50% of patients have the complete syndrome with mucosal neuromas, Pheochromocytoma , and Often, mucosal neuromas are the earliest sign, and they occur in most or all patients. Neuromas appear as small glistening bumps on the lips, tongue, and buccal mucosae. The eyelids, conjunctivae, and corneas also commonly develop neuromas; infants are often unable to make tears. Thickened eyelids and everted, diffusely hypertrophied lips are characteristic. Gastrointestinal abnormalities related to altered motility (constipation, diarrhea, and, occasionally, megacolon) are common and thought to result from diffuse intestinal ganglioneuromatosis. Patients almost always have a Symptoms and Signs . Skeletal abnormalities are common, including deformities of the spine (lordosis, kyphosis, scoliosis), slipped capital femoral epiphyses, dolichocephaly (hull-shaped skull, also called scaphocephaly), pes cavus, and talipes equinovarus. Medullary thyroid carcinoma and pheochromocytoma resemble the corresponding disorders in Symptoms and Signs ; both tend to be bilateral and multicentric. Medullary thyroid carcinoma, however, tends to be particularly aggressive in MEN 2B and may be present in very young children. Although the neuromas, facial characteristics, and gastrointestinal disorders are present at an early age, the syndrome may not be recognized until medullary thyroid carcinoma or pheochromocytoma manifests in later life. 