- Diagnosis: Carney complex
- Histology: Biopsy specimens of excised lesions showed a proliferation of spindled cells in a mucinous stroma, consistent with cutaneous myxomas (Figs 4, 5).
- Course: Serial excisions were performed on his most bothersome lesions, providing symptomatic relief.
- Discussion: Carney complex (CNC) is a multiple neoplasia syndrome. It is inherited in an autosomal dominant pattern. It is caused by a mutation in PRKAR1A, the gene encoding the regulatory subunit R1A of protein kinase A, in about half of all cases. The diagnosis can be made based on the presence of two of the diagnostic criteria, or one diagnostic criteria and one of the supplemental criteria (shown below). Our patient had several manifesations of CNC including cutaneous myxomas, acromegaly due to a GH-secreting pituitary tumor, and lentigines.
- Three of the major criteria are cutaneous manifestations: (1) spotty skin pigmentation (2) cutaneous or mucosal myxoma; and (3) blue nevi (multiple), epithelioid blue nevus. Abnormal skin pigmentation is often the earliest sign of CNC. Patients generally first experiences cutaneous myxomas in their teens, most frequently on eyelids, face, ears, trunk, and perineum. Cardiac myxomas can be life-threatening as they can lead to obstruction or embolization. Approximately 80% of CNC patients with a cardiac myxoma will present with cutaneous myxomas earlier in life. Pituitary adenomas, specifically GH-secreting tumors, occur in about 10% of patients and should be considered when acromegaly or gigantism is noted
- Diagnostic criteria to make a diagnosis of CNC, a patient must either (1) exhibit two of the manifestations of the disease listed, or (2) exhibit one of these manifestations and meet one of the supplemental criteria):
- 1) Spotty skin pigmentation with a typical distribution (lips, conjunctiva and inner or outer canthi, vaginal and penile mucosa)
- 2) Myxoma (cutaneous and mucosal)
- 3) Cardiac myxoma
- 4) Breast myxomatosis1 or fat-suppressed magnetic resonanceimaging findings suggestive of this diagnosis
- 5) PPNAD1 or paradoxical positive response of urinary glucorticosteroids to dexamethasone administrationduring Liddle test
- 6) Acromegaly due to GH-producing adenoma
- 7) LCCSCT or characteristic calcification on testicular ultrasonography
- 8) Thyroid carcinoma or multiple, hypoechoic nodules onthyroid ultrasonography in a young patient
- 9) Psammomatous melanotic schwannoma
- 10) Blue nevus, epithelioid blue nevus (multiple)
- 11) Breast ductal adenoma (multiple)
- 12) Osteochondromyxoma
- Supplemental criteria:
- 1) Affected first-degree relative
- 2) Inactivating mutation of the PRKAR1A gene
- 1. Mateus C, Palangie A, Franck N, Groussin L, Bertagna X, Avril MF, et al. Heterogeneity of skin manifestations in patients with Carney complex. J Am Acad Dermatol. 2008;59:801-10.
- 2. Wilkes D, McDermott DA, Basson CT. Clinical phenotypes and molecular genetic mechanisms of Carney complex. Lancet Oncol. 2005;6:501-8.
- This case is presented by Shaanan Shetty MD, Stephanie Skala BS, Andras Schaffer MD, PhD, and M. Laurin Council MD.