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Picture of the Month

Sydney S. Gellis, MD; Murray Feingold, MD
Am J Dis Child. 1971;121(3):235-236. doi:10.1001/archpedi.1971.02100140101010.
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Denouement and Discussion 

Mucosal Neuroma Syndrome  Syndrome of Bilateral Pheochromocytoma, Medullary Thyroid Carcinoma, and Multiple Neuromas

Manifestations  Major manifestations include mucosal neuromas of the lips and tongue, a body build suggestive of Marfan's syndrome, pheochromocytoma, and medullary carcinoma of the thyroid. The mucosal neuromas appear early and involve mainly the lips and anterior portion of the tongue; other areas of the mouth, conjunctivae, and nasal and laryngeal mucosa may also be involved. The lips are protuberant, and have a "blubbery" appearance. The pheochromocytomas are unilateral or bilateral, but usually do not manifest themselves until after puberty, and early diagnosis is important because of the good response to therapy.Other findings include arachnodactyly, the thumb sign, pes cavus, protruding ears, prognathism, thick and everted eyelids, diverticulosis, and hyperplasia of the parathyroid glands. Slit-lamp examination may reveal medullated nerve fibers in the cornea.

Genetics  The mode of inheritance is autosomal dominant which


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