A case of Carney complex in a Korean patient is presented. The patient had the characteristics of Carney complex including skin lesions, positive family history, and multiple myxomas including a superficial angiomyxoma in the perianal area. An extensive genetic analysis revealed a novel mutation in the protein kinase A type I-a regulatory subunit (PRKAR1A) gene, but not in the phosphodiesterase type 11A (PDE11A) gene. This is the first case wherein extensive genetic studies were performed in a patient with Carney complex in Korea.
|Number of pages||6|
|Journal||Korean Journal of Pathology|
|Publication status||Published - 2012 Dec 1|
- Carney complex
- Superficial angiomyxoma
ASJC Scopus subject areas
- Pathology and Forensic Medicine