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Carney complex is a rare autosomal dominant multiple neoplasia syndrome characterized by a constellation of cardiac, endocrine, cutaneous, and neural tumors, along with distinct pigmented skin lesions.
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Genetic and molecular basis:
| Feature | Description |
|---|---|
| Main gene | PRKAR1A (protein kinase A regulatory subunit type 1A) |
| Chromosome | 17q24 |
| Inheritance | Autosomal dominant (with variable penetrance) |
| Pathophysiology | Dysregulated cAMP signaling promotes tumorigenesis |
Carney complex is clinically heterogeneous, but key components include:
| System/Feature | Description |
|---|---|
| Cardiac tumors | ‣ (most common non-endocrine manifestation); can be multifocal, recurrent, and atypically located |
| Endocrine tumors | Includes ‣ → Cushing’s syndrome, GH-producing pituitary adenoma, testicular tumors |
| Skin pigmentation | Lentigines, blue nevi, café-au-lait macules (not diagnostic by themselves) |
| Cutaneous myxomas | Eyelids, external ear canal, nipples; soft, painless papules |
| Testicular tumors | Large-cell calcifying Sertoli cell tumors (LCCSCT) – bilateral and often benign |
| Thyroid lesions | Multinodular goiter or adenomas, rarely carcinomas |
| Breast lesions | Myxoid fibroadenomas, ductal adenomas (nonmalignant) in women |
| Schwannomas | Psammomatous melanotic schwannomas, a unique feature of CNC |
Cutaneous manifestations in CNC. A: Cutaneous (A1) and vaginal mucosal (A2) lentigines; B: Blue nevus C: Cutaneous myxoma.
Rothenbuhler A, Stratakis CA. Clinical and molecular genetics of Carney complex. Best Practice & Research Clinical Endocrinology & Metabolism. 2010;24(3):389-399. doi:https://doi.org/10.1016/j.beem.2010.03.003
Stratakis diagnostic criteria: