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Carney complex: report of three cases
1Department of Radiology, University of Southern California School of Medicine, Los Angeles County-USC Medical Center 90033, USA.
Radiology
|August 1, 1995
Summary
Carney complex, a rare genetic disorder, presents with cardiac myxomas, skin lesions, and melanotic schwannomas. This study highlights the diverse manifestations and severe outcomes, including death from metastatic schwannoma, in affected patients.
Area of Science:
- Endocrinology
- Genetics
- Pathology
Background:
- Carney complex is a rare genetic disorder characterized by myxomas and spotty skin pigmentation.
- It involves multiple endocrine and non-endocrine tumors, including cardiac myxomas and psammomatous melanotic schwannomas.
- Testicular Sertoli cell tumors have also been associated with Carney complex.
Observation:
- Three patients presented with features of Carney complex.
- Manifestations included cardiac myxomas, pigmented skin lesions, cutaneous myxomas, melanotic schwannoma, and testicular Sertoli cell tumors.
Findings:
- Cardiac myxomas and melanotic schwannoma were recurrent or multicentric in some patients.
- Psammomatous melanotic schwannoma was the initial presentation in one case.
- Two patients succumbed to metastatic schwannoma, highlighting its aggressive nature.
Implications:
- This case series underscores the diverse clinical manifestations of Carney complex.
- Early diagnosis and vigilant monitoring are essential for managing this complex syndrome.
- Aggressive tumors like metastatic schwannoma necessitate prompt and effective therapeutic strategies.