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

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 c o nditions. 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, a n d 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, s p o tty pigmentation, and endocrine overactivity" (Carney complex).