Definition

What is Carney complex?

Carney complex is a rare genetic condition characterized by spotty skin, hyperpigmentation or lentiginosis; myxomas (mostly benign) mainly in skin and heart, noncancerous connective tissue tumors; nerve sheath tumors or schwannomas and cancerous or benign tumors in the different endocrine glands of the body resulting in endocrine over activity. Carney complex also called multiple neoplasia syndromes and is distinct from Carney’s Triad disease.

Carney complex is also denoted by the following terms according to the symptoms manifested:

  • NAME syndrome – Nevi, meaning birthmarks or moles, Atrial myxoma, Myxoid neurofibromas, and Ephelides (freckles)
  • LAMB syndrome – Lentigines, Atrial Myxoma, and Blue nevi

How common is Carney complex?

Carney complex is extremely rare. It, although a worldwide ailment, affects the general population with a frequency of 7 cases per 10,000 individuals. Most patients who are affected with this condition belong to a white race, but the tendency of the occurrence of this disease is most common in blacks or other racial groups. The mean age of the patient diagnosed with Carney complex is about 10-20 years, and the disorder is seen in individuals of either sex and of any age. Sporadic myxomas usually affect middle-aged adults, especially females. This rare disorder has been identified in about fewer than 750 individuals till now. Please discuss with your doctor for further information.

Symptoms

What are the symptoms of Carney complex?

Signs and symptoms of Carney complex commonly start around the 20 years or sometimes in the teenage.

Multiple cardiac myxomas are seen in two-thirds of patients.

Spotty skin pigmentation with the appearance of blue nevi or lentigines especially on the face, eyelids, inner and outer corners of the eyes, trunk, conjunctiva, lips, around the genital area, and sclera.

Impaired fertility is seen in males.

Multiple other features including extracardiac tumors are seen in the following.

  • Breast
  • Oral mucosa
  • Skin
  • Testis
  • Thyroid
  • Pancreas
  • Testicular tumors mainly in the Sertoli cells
  • Pituitary adenoma
  • Nervous tissue resulting in psammomatous melanotic schwannoma
  • Adrenal gland leading to primary pigmented nodular adrenocortical disease or PPNAD.

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you have any signs or symptoms listed above or have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.

Causes

What causes Carney complex?

Mutations in the tumor-suppressor gene PRKAR1A gene on chromosome 17q23-q24 encoding the R1α regulatory subunit of protein kinase A (PKA) have been found to cause Carney complex. Inactivated germline mutations of this gene are seen in 70% of people with Carney complex. Researchers have shown that more than 60% of people with Carney complex have a mutation in the PRKAR1A gene and about 6% of people may have deletions in this gene. Most of these mutations are distinct as they are identified only in single families.

Basically, the molecular pathogenesis of Carney complex occurs due to a variety of genetic changes at chromosome 2p16. Both types of Carney complex are usually autosomal dominant. Despite dissimilar genetics, there is actually no phenotypic difference between PRKAR1A gene and chromosome 2p16 mutations. Some myxomas may occur due to the generation of the pro-inflammatory cytokine interleukin-6 by the myxoma. Findings suggest a role of PKA and perinatal myosin heavy chain in cardiac tumorigenesis.

Carney complex-related genes are associated with genomic instability and also the cell lines from Carney complex tumors may lead to various chromosomal changes, such as dicentric chromosomes and telomeric associations.

People without a mutation in PRKAR1A typically show mild symptoms mostly in the later stage of life. The gene mutation in such individual are considered sporadic, i.e., it occurs by chance.

Risk factors

What increases my risk for Carney complex?

There are many risk factors for Carney complex, such as:

  • Prolonged family history of acromegaly, Cushing’s syndrome, or sudden death.
  • Family history of cancer, particularly in pancreas, colon, testis, and ovary.
  • Familial non-medullary thyroid cancer or FNMTC.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is Carney complex diagnosed?

A diagnosis of Carney complex is made based upon a detailed patient history, a thorough clinical evaluation, a variety of specialized tests and identification of characteristic symptoms.

According to the medical literature, identification of two or more of the following symptoms in typical fashion is indicative of Carney complex: cardiac myxoma: skin myxoma; lentiginosis; multiple blue nevi; primary pigmented nodular adrenocortical disease (PPNAD); testicular tumors; acromegaly; thyroid tumors, melanotic schwannoma; or an osteochondromyxoma.

Tests that may performed to help obtain a diagnosis of Carney complex include surgical removal and microscopic study of affected skin (skin biopsy), urine analysis to detect elevated levels of cortisol (indicative of Cushing’s disease), an echocardiogram to detect the presence of cardiac myxomas, and blood tests to detect abnormal high levels of certain hormones such as insulin-like growth factor, cortisol and prolactin due to the presence of endocrine tumors.

A diagnosis of Carney complex can be confirmed in some cases through molecular genetic testing, which can reveal the characteristic mutation of the PRKAR1A gene that causes the disorder in many cases. Molecular genetic testing is available on a clinical basis.

How is Carney complex treated?

Cardiac myxomas require surgical removal but can recur within the heart and also far away from the site of the initial tumor. Surgery is necessary to operate intracardiac myxomas and in order to prevent valvular obstruction or embolic stroke. Antibiotic prophylaxis is necessary if there is an existence of valvular insufficiency.

Treatment for the other manifestations may include surgery, or medical procedure depending on the size and location of the tumor together with the existence of clinical symptoms of hormonal excess, tumor mass, or, suspecting of malignancy. Malignancy in Carney complex is usually observed in thyroid nodes and melanotic schwannoma. Bilateral adrenalectomy is the most popular treatment for Cushing’s syndrome caused by PPNAD.

In Carney complex, medical care is restricted to the treatment of endocrine over activity. No specific drug is useful for the treatment of myxomas.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage Carney complex?

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Sources

Review Date: February 22, 2018 | Last Modified: February 22, 2018

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