Pheochromocytoma--Islet Cell Tumor Syndrome

Carney et al. (1980) suggested that pheochromocytoma and/or islet cell tumor is an autosomal dominant endocrine adenomatosis distinct from MEA I, II and III. They reported 3 families. Among 11 affected patients (aged 5 to 53 years), 10 had pheochromocytoma (bilateral in 6), 4 had islet cell tumor (multicentric in 1), and 3 had both tumors. Clinical presentation was due to pheochromocytoma in 10 (symptoms or signs beginning before age 10 years in 3) and islet cell tumor in 1. Two patients died from pheochromocytoma and 2 from islet cell carcinoma. One of their probands had numerous cafe-au-lait spots up to 4 cm in diameter and axillary freckling. There was, however, no family history of von Recklinghausen disease. Most of the other families in the literature with this combination of endocrine tumors had von Hippel-Lindau disease (VHL; 193300). For example, Hull et al. (1979) reported sibs with VHL syndrome who had both pheochromocytoma and islet cell adenomas. Thus, the case for a separate pheochromocytoma-islet cell tumor cannot be considered proved. Zeller et al. (1982) reported the eleventh case of this association.