The complex of myxomas spotty skin pigmentation and endocrine overactivity (Carney complex): imaging findings with clinical and pathological correlation

摘要

The complex of myxomas, spotty skin pigmentation and endocrine overactivity, or Carney complex (CNC), is a familial multiple endocrine neoplasia and lentiginosis syndrome. CNC is inherited in an autosomal dominant manner and is genetically heterogeneous. Its features overlap those of McCune-Albright syndrome and other multiple endocrine neoplasia (MEN) syndromes. Spotty skin pigmentation is the major clinical manifestation of the syndrome, followed by multicentric heart myxomas, which occur at a young age and are the lethal component of the disease. Myxomas may also occur on the skin (eyelid, external ear canal and nipple) and the breast. Breast myxomas, when present, are multiple and bilateral among female CNC patients, an entity which is also described as “breast-myxomatosis” and is a characteristic feature of the syndrome. Affected CNC patients often have tumours of two or more endocrine glands, including primary pigmented nodular adrenocortical disease (PPNAD), an adrenocorticotropin hormone (ACTH)-independent cause of Cushing’s syndrome, growth hormone (GH)-secreting and prolactin (PRL)-secreting pituitary adenomas, thyroid adenomas or carcinomas, testicular neoplasms (large-cell calcifying Sertoli cell tumours [LCCSCT]) and ovarian lesions (cysts and cancinomas). Additional infrequent but characteristic manifestations of CNC are psammomatous melanotic schwannomas (PMS), breast ductal adenomas (DAs) with tubular features, and osteochondromyxomas or “Carney bone tumour”.Teaching Points• Almost 60 % of the known CNC kindreds have a germline inactivating mutations in the PRKAR1A gene.• Spotty skin pigmentation is the major clinical manifestation of CNC, followed by heart myxomas.• Indicative imaging signs of PPNAD are contour abnormality and hypodense spots within the gland.• Two breast tumours may present in CNC: myxoid fibroadenomas (breast myxomatosis) and ductal adenomas.• Additional findings of CNC are psammomatous melanotic schwannomas (PMSs) and osteochondromyxomas.