Published Web Locationhttps://doi.org/10.5070/D30tm0k44r
From the Ronald O. Perelman Department of Dermatology, New York University
Monika Srivastava MD
Dermatology Online Journal 10 (3): 11
A 55-year-old man with a history of two atrial myxomas presented for evaluation and removal of skin lesions. Histopathologic examination showed a well-circumscribed lesion that was consistent with a myxomatous polyp. Carney complex is a syndrome with multiple neoplasias, which is characterized by mucocutaneous myxomas, cardiac myxomas, lentigines, and endocrine abnormalities. Patients with Carney complex need to be monitored for the development of cardiac myxomas and endocrine tumors.
History.—A 55-year-old man with a history of two atrial myxomas was referred to the Department of Veterans Affairs New York Harbor Healthcare System New York Campus Dermatology Service for the removal of lesions on his right flank and on his right buttock. These lesions had been present for 5 years. Medications included amiodarone, furosemide, metoprolol, and aspirin.
Physical examination.—On the right flank and right buttock, there were 1.5-cm, pedunculated, flesh-colored nodules. On the chest there was a vertical surgical scar from prior cardiac surgery. On the right areola, a rubbery, flesh-colored nodule was noted. There were several small pigmented papules and macules on his trunk. The patient did not exhibit acromegalic or cushingoid features.
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Laboratory data.—A complete blood count, chemistry profile, and liver functions tests were normal. Thyroid-stimulating hormone was 3.146 IU/mL (normal range 0.49-6.0 IU/mL). Growth hormone and urinary free-cortisol levels are pending.
Histopathology.—There is a polypoid mass composed of fibrillary collagen, telangiectases, and uniform stellate cells within abundant connective tissue mucin. The overlying epidermis is slightly hyperplastic and ramifies as strands through the myxoid dermis.
Carney complex is a syndrome with multiple neoplasias that are inherited in an autosomal dominant pattern. The syndrome consists of cardiac and mucocutaneous myxomas, spotty pigmentation, and endocrine abnormalities. It was initially described in 1985.  Most cases are familial; however, sporadic cases may occur.  The diagnostic criteria for Carney complex include the following: spotty skin pigmentation, cutaneous or mucosal myxomas, cardiac myxoma, breast myxoma, primary pigmented nodular adrenocortical disease, growth-hormone-producing adenoma, large-cell calcifying Sertoli-cell tumor, thyroid carcinoma, psammomatous melanotic schwannoma, blue nevus, breast ductal adenoma, and osteochondromyxoma. Patients exhibiting two of the above components meet the diagnostic criteria for Carney complex. 
Two genetic loci have been implicated for Carney complex: chromosome 2p16 and chromosome 17q22-24.  This latter locus contains the gene encoding the regulatory subunit for the protein kinase A PRKAR1A, which has been shown to be mutated in almost one-half of the patients.  The diagnostic criteria have thus been expanded to include patients who exhibit one manifestation and a familial pattern or inactivating mutations of the PRKAR1A gene. 
Patients with Carney complex should have the following screening and annual examinations: echocardiography, measurement of urinary free-cortisol levels, and serum IGF-I levels. Male patients should also have testicular ultrasonography to evaluate for microcalcifications, which likely represent a large-cell calcifying Sertoli-cell tumor. Thyroid ultrasonography should be obtained at the initial evaluation and may be repeated as needed. Transabdominal pelvic ultrasonography in female patients is recommended during the first evaluation. Because of the low risk of an ovarian malignant condition, this test does not need to be repeated unless there is a detectable abnormality. Breast imaging may be required for the detection of breast tumors.  Appropriate referrals to cardiology, endocrinology, gynecology, and urology should be made.
References1. Carney JA, et al. The complex of myxomas, spotty pigmentation, and endocrine overactivity. Medicine 1985; 64:270.
2. Sandrini F, Stratakis C. Clinical and molecular genetics of Carney complex. Molecular Genet Metab 2003; 78:83.
3. Stratakis C, et al. Clinical and molecular features of the Carney complex: diagnostic criteria and recommendations for patient evaluation. J Clin Endocrinol 2001; 86:4041.
4. Casey M, et al. Identification of a novel genetic locus for familial cardiac myxomas and Carney complex. Circulation 1998; 98:2560.
5. Kirschner LS, et al. Mutations of the gene encoding the protein kinase A type I- regulatory subunit in patients with Carney complex. Nat Genet 2000; 26:89.
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