The most recent diagnostic criteria include clinical findings such as spotty skin pigmentation, cutaneous and cardiac myxomas, breast myxomatosis, acromegaly, primary pigmented nodular adrenocortical disease, blue nevus, epithelioid blue nevus, osteochondromyxoma, thyroid carcinoma, LCCSCT in males, ovarian cyst in females and mutation of the PRKAR1A gene. Here, PRKAR1A is linked to primary pigmented nodular adrenocortical disease.