General
Carney complex is a hereditary disorder that comprises three main components: cardiac myxomas, lentigines, and endocrine disorders (disorders of the endocrine glands). Carney complex is most commonly caused by mutations in the PRKAR1A gene located on chromosome 17. This mutation is present in approximately 70% of individuals affected by this condition. Less commonly, the cause is associated with abnormalities on chromosome 16.
Diagnosis and Treatment
Diagnosis is based on the clinical features listed below as well as on genetic testing. Treatment is symptomatic. In the case of cardiac myxoma, surgical intervention is indicated.
- lentigines (pigmented skin lesions resembling lentils)
- most commonly located on the face, especially on the lips, eyelids, conjunctiva, and oral mucosa
- cardiac myxomas
- conjunctival myxomas (myxo- = tumor of connective tissue) – may lead to stroke and heart failure
- fever
- joint pain
- shortness of breath
- heart murmur
- myxomas of the conjunctiva
- breast myxomas
- schwannomas (most commonly affecting the auditory nerve)
- benign tumors originating from Schwann cells (cells that surround nerve fibers and form the myelin sheath)
- progressively worsening hearing loss
- tinnitus
- balance disturbances
- occasional facial nerve palsy
- testicular tumors
- firm enlargement of the testis
- occasional gynecomastia (breast enlargement in males)
- excretory disorders
- symptoms related to metastases (hip pain with bone metastases, chest pain and cough with lung metastases)
- endocrine disorders
- most commonly Cushing syndrome – a disorder caused by increased production of adrenal cortex hormones
- pituitary tumors
- a variant with blue nevus may also occur
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