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An Unusual Presentation of Carney Complex
Aydilek Dağdeviren Çakır1, Hande Turan1, Tiraje Celkan2
1İstanbul University-Cerrahpaşa, Cerrahpaşa Faculty of Medicine, Department of Pediatric Endocrinology, İstanbul, Turkey
Summary
Carney complex (CNC) is a rare genetic disorder. This case highlights osteochondromyxoma as an initial symptom, emphasizing the need for considering CNC in its diagnosis.
Area of Science:
- Endocrinology
- Genetics
- Oncology
Background:
- Carney complex (CNC) is a rare genetic disorder characterized by multiple neoplasms.
- Mutations in the PRKAR1A gene are common in CNC patients.
- Osteochondromyxoma (OMX) and large cell calcifying Sertoli cell tumors (LCCSCT) are rare CNC-associated tumors.
Observation:
- An atypical CNC case presented initially with a recurrent intranasal tumor.
- The patient later developed central precocious puberty and a testicular tumor (LCCSCT).
- Histopathological re-evaluation diagnosed the intranasal tumor as osteochondromyxoma (OMX).
Findings:
- The coexistence of OMX and LCCSCT strongly suggested Carney complex.
- Genetic analysis confirmed a PRKAR1A gene mutation (p.Trp 224*).
- This case demonstrates CNC presenting without typical pigmented skin lesions.
Implications:
- Delayed diagnosis of OMX in CNC is possible due to its rarity.
- Clinicians should consider Carney complex when diagnosing osteochondromyxoma.
- Early recognition of CNC is crucial for timely management of associated neoplasms.
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