Which physical findings are characteristic of Carney syndrome?

Updated: Mar 16, 2020
  • Author: Robert A Schwartz, MD, MPH; Chief Editor: William D James, MD  more...
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Carney syndrome is an autosomal dominant multiple neoplasia syndrome involving cardiac, cutaneous, and mammary myxomatous masses; lentigines; blue nevi; endocrine disorders; and testicular tumors. [25] Often, multicentric and bilateral organ involvement is present; this usually occurs in young patients. The cutaneous myxomas are often observed on the eyelids and other sites such as the nipples, scalp, face, oral mucosa, ears, neck, trunk, limbs, and perineum. Cardiac myxomas are either single or multiple and often result in fibrosis or calcification.

Two types of pigmented macules exist: blue nevi and lentigines. Lentigines are brown to black and 0.2-2 mm in diameter; they have irregularly shaped, jagged margins. They are widespread throughout the body and may coalesce to form brown patches. The lesions can be found on the face, eyelids, ears, vermilion borders of the lips, conjunctiva, vulva, extremities, and glans penis. Unlike Peutz-Jeghers syndrome, Carney syndrome infrequently involves buccal lesions. Endocrine involvement includes calcifying pigmented neuroectodermal tumors, pituitary adenomas with acromegaly and gigantism, and adrenocortical disease leading to Cushing syndrome.

Testicular tumors feature Sertoli cell tumors, Leydig cell tumors, and adrenocortical rest tumors. Mammary involvement includes gynecomastia and myxomatous enlargement of the stroma.

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