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.
Baum JL, Adler ME. Pheochromocytoma, Medullary Thyroid Carcinoma, Multiple Mucosal NeuromaA Variant of the Syndrome. Arch Ophthalmol. 1972;87(5):574-584. doi:10.1001/archopht.1972.01000020576016