"Carney Complex" – What Is It?
The Carney complex (CNC) describes a rare clinical picture in which characteristic pigment spots, multiple benign tumors (myxomas), hormonal tumors or regulatory disorders, and malignant cancers develop.
How Is "Carney Complex" Diagnosed?
The average age of onset is 20 years. The diagnosis is made by experts based on the following diagnostic criteria:
Main Criteria
- Mottled pigment abnormalities of the skin (with typical localization on the lips, corners of the eyes, conjunctiva, vaginal/penile mucosa)
- Benign tumors (myxomas) of the skin, mucous membrane, or heart
- Adrenal gland disease
- Growth hormone excess
- Thyroid cancer
- Testicular cancer
- Malignant nerve sheath tumors
- Bluish shimmering moles
Supplementary Criteria
- A first-degree relative with Carney complex (CNC)
- Detection of an inactivating genetic modification
What Is the Risk of Cancer?
Carney complex patients have an increased risk of various types of cancer, both hormonal and non-hormonal.
Carney complex is characterized by the occurrence of myxomas. These are rare, benign tumors consisting of connective tissue material. They often affect the heart and can lead to serious complications such as embolisms, heart failure, and even sudden cardiac death. Due to the myxomas, the heart is overloaded after some time and can no longer perform its function. As myxomas can already occur in childhood, regular cardiological examinations are important. Other organs, such as the skin, breast, bones, and the female genital tract, can also be affected by myxomas.
Hormonal Tumors
- The most common hormonal tumor affects the adrenal gland and is called “Primary pigmented nodular adrenocortical disease (PPNAD)“. This can lead to serious hormonal disorders such as Cushing’s syndrome. This is manifested by reduced growth in children, diabetes, high blood pressure, truncal obesity, and other symptoms.
- 30- 50% of male patients develop testicular tumors (“large cell calcifying Sertoli cell tumor”). Although the majority of these tumors are benign, 17% degenerate into malignant tumors.
- Thyroid cancer develops in less than 10% of patients, but thyroid nodules are found in the majority of CNC patients.
- Schwannomas, tumors of the nerve sheath wall, occur in 10% of mutation carriers.
What Is Known About the Development of "Carney Complex"?
The Carney complex is caused by a hereditary change in the “PRKAR1A” gene, which acts as a tumor suppressor gene. This means that it prevents uncontrolled cell growth in a healthy state. A mutation, i.e., a hereditary change such as in the Carney complex, means this function is lost and a tumor develops.
The inheritance of Carney complex mutations is “autosomal dominant”, which means that every second child with a mutation carrier develops the disease. To date, 750 cases are known worldwide.
Is There Any Form of Treatment Available?
Patients with the Carney complex should be treated by a professional interdisciplinary team. Myxomas of the heart must be surgically removed as they can otherwise lead to serious complications. Furthermore, surgical removal is also an option for PPNAD, pituitary tumors, and schwannomas.
The early detection examinations listed below, compiled by experts, are critical to detect tumors in good time and treat them successfully.
Diagnosis of " Carney Complex" What's Next?
Once you have been diagnosed, please be sure to consult a specialist for this cancer predisposition syndrome. In the following section, we explain whether cancer screening tests or other measures are necessary and how they should be carried out. We also give you a few tips on what you can do yourself. If you have any questions, don’t hesitate to get in touch with us or your doctor at any time.
Diagnosis of " Carney Complex" What's Next?
Once you have been diagnosed, please be sure to consult a specialist for this cancer predisposition syndrome. In the following section, we explain whether cancer screening tests or other measures are necessary and how they should be carried out. We also give you a few tips on what you can do yourself. If you have any questions, don’t hesitate to get in touch with us or your doctor at any time.
Medical Measures for Early Detection
- Annual echocardiography from childhood
- Regular skin examinations
- Regular blood samples with monitoring of hormone levels
- Screening for thyroid tumors
- CT for the detection of adrenal insufficiency (PPNAD)
- MRI of brain/spine/chest/abdomen/pelvis for the detection of
- Nerve sheath wall tumors (PMS)
- In men, annual ultrasound examination of the testicles from childhood
- At least one ultrasound examination of the ovaries in women
- In prepubertal children, control of longitudinal growth and pubertal development
Carney Complex – What You Can Do Yourself
You Should Pay Attention to This
You should consult a doctor when you notice frequent infections, increased or difficult-to-stop bleeding (e.g., prolonged or frequent nosebleeds), increased bruising, fatigue or a feeling of illness, fever, night sweats, or pallor. In addition, you should urgently consult a doctor if you experience increasing skin pigmentation, vomiting, weight loss, further gastrointestinal complaints, or clouding of consciousness. If other new symptoms or complaints occur, these should also be clarified as quickly as possible.
Further Information
Unfortunately, we are not yet aware of any support groups for patients with Carney complex. As soon as we have new information, we will add it here.
Any further questions?
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