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Carney complex (CNC) is a familial multiple neoplasia syndrome associated with abnormal skin and mucosal pigmentation, primary pigmented nodular adrenocortical disease (PPNAD), cardiac and cutaneous myxomas, GH and PRL pituitary adenoma, testicular tumors, thyroid adenoma or carcinoma and ovarian cysts. CNC is inherited as an autosomal dominant trait and has some clinical similarities to McCune-Albright syndrome. Recently, genes related to stimulation of the cAMP signaling pathway have been considered candidates for causing CNC. We report a 17-yr-old man with PPNAD, lentigines on the face and severe osteoporosis. In this article we aim at describing the clinical aspects and molecular genetics of CNC and also summarizing diagnostic criteria for CNC and recommendations for follow-up.
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| http://dx.doi.org/10.1590/s0004-27302004000400016 | DOI Listing |
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