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May 1972

Pheochromocytoma, Medullary Thyroid Carcinoma, Multiple Mucosal Neuroma: A Variant of the Syndrome

Author Affiliations

From the Department of Ophthalmology, Tufts-New England Medical Center, Boston.

Arch Ophthalmol. 1972;87(5):574-584. doi:10.1001/archopht.1972.01000020576016

A case report and review of the literature help to define a syndrome consisting of highly visible corneal nerves, thickened eyelids, an ectopic lacrimal punctum,, decreased tear function, pheochromocytoma, medullary carcinoma of the thyroid, multiple mucosal neuroma or neurofibroma, intestinal ganglioneuromatosis, a characteristic facies, and a marfanoid habitus. Multiple similarities to familial dysautonomia are presented. The pathogenesis of an associated absent flare response following an intradermal histamine injection is discussed.