Discovery of the Carney Complex, a Familial Lentiginosis–Multiple Endocrine Neoplasia Syndrome: A Medical Odyssey

Abstract

In 1981, study of the adrenal pathology in four cases of Cushing syndrome led to characterization of a unique disorder termed primary pigmented nodular adrenal disease (PPNAD). Review of the literature showed that the condition occurred in two families. In one, it had affected two siblings; a third sibling who did not have Cushing syndrome died of cardiac myxoma. To test the hypothesis that there was a connection between PPNAD and cardiac myxoma, the Mayo Clinic files and the world literature were searched for patients with both conditions. The search uncovered one Mayo Clinic patient with the two conditions. The patient’s record revealed that she was “covered in pigmented moles” and had a myxomatous tumor of the breast. A review of the literature on cardiac myxoma revealed that there were two types of the tumor, nonfamilial and familial, and that rare cases of the latter were variously associated with cutaneous pigmented spots, mammary and cutaneous myxomas, large-cell calcifying Sertoli cell tumor, and growth hormone-producing pituitary adenoma. In 1985, all these conditions were assembled into a unifying syndrome and reported as “the complex of myxomas, spotty pigmentation, and endocrine overactivity” (Carney complex).