Pheochromocytoma, Medullary Thyroid Carcinoma, Multiple Mucosal Neuroma

Abstract

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.