A 21-year-old man with a history of an excised soft tissue mass of the groin and spotty cutaneous pigmentation underwent excision of nodules of the right lower and left upper eyelids. The patient subsequently had a cutaneous mass of the left ear removed. All excised lesions were classified as myxomas. A diagnosis of multiple myxoma, spotty pigmentation, and endocrine overactivity (Carney's) com...

Carney complex is an autosomal dominant disease that displays such characteristic features as cardiac and cutaneous myxomas and spotty pigmentation of the skin. We report here on a case of Carney complex that was accompanied by increased myxoid fibroadenomas in the breast and multiple intracranial aneurysms.

Note: A multiple neoplasia syndrome characterized by spotty skin pigmentation, cardiac and other myxomas, endocrine tumors, psammomatous melanotic schwannomas and other tumors. Inheritance: A genetically heterogeneous autosomal dominant disorder with high penetrance for CNC1 (penetrance for CNC1 due to PRKARIA defects is close to 100%); this estimate of penetrance does not apply to kindreds wit...

Pheochromocytomas and paragangliomas occur sporadically but are commonly associated with the von Hippel Lindau (VHL) syndrome, multiple endocrine neoplasia type 2 (MEN2), neurofibromatosis type 1 (NF1) and germline mutations of succinate dehydrogenase B (SDHB), C (SDHC) or D (SDHD). It is therefore recommended that genetic testing be considered if not performed in all cases of even apparently s...

Pheochromocytomas (PCCs) and paragangliomas (PGLs) are rare neuroendocrine tumors of the adrenal glands and the sympathetic and parasympathetic paraganglia. They can occur sporadically or as a part of different hereditary tumor syndromes. About 30% of PCCs and PGLs are currently believed to be caused by germline mutations and several novel susceptibility genes have recently been discovered. The...

Abstract Introduction: Carney complex is a rare autosomal dominant disorder characterized by pigmented lesions of skin and mucosae, endocrine neoplasms or overactivity, myxomas the heart, skin, other organs. Most patients have at least two affected organs time diagnosis. We present case with involvement limited to thyroid gland. Case: A 48-year-old female was referred for evaluation nodules inc...