A 17-year-old man presented with a subcutaneous tumor on his right cheek. Histopathology of the excised tumor was cutaneous myxoma. He also had multiple spotty skin pigmentation on the lip. Echocardiography revealed a myxoma in his left atrium; thus, we established a diagnosis of Carney complex (CNC). Other systemic abnormalities included testicular calcifications and growth hormone-producing pituitary adenoma. CNC is a very rare syndrome characterized by cutaneous and cardiac myxomas, skin pigmentations, and various kinds of endocrine overactivity/tumors. Half of these patients exhibit autosomal dominant inheritance associated with PRKAR1A gene mutations. A frameshift mutation of PRKAR1A was detected in the present case, while its mutations were not detected in other family members. The most cautious symptom in CNC is a cardiac myxoma that may cause sudden death. Therefore, early and appropriate diagnosis is crucial in CNC wherein skin symptoms usually precede systemic complications.
All Science Journal Classification (ASJC) codes