Carney syndrome

Carney Syndrome

Carney Syndrome (pronounced: KAR-nee SIN-drome), also known as Carney Complex, is a rare genetic disorder characterized by multiple benign tumors and dark pigmented skin lesions. The syndrome is named after Dr. J. Aidan Carney who first described it in 1985.

Etymology

The term Carney Syndrome is derived from the name of the physician Dr. J. Aidan Carney, who first identified and described the condition.

Definition

Carney Syndrome is a genetic disorder that is inherited in an autosomal dominant manner. It is characterized by the development of multiple benign tumors in various parts of the body, including the heart, skin, and endocrine system. The syndrome is also associated with dark pigmented skin lesions known as lentigines.

Symptoms

The symptoms of Carney Syndrome can vary greatly among individuals. Common symptoms include:

• Cardiac myxomas: These are benign heart tumors that can lead to various complications such as stroke and heart failure.
• Lentigines: These are dark pigmented skin lesions that are often present from birth.
• Endocrine tumors: These are benign tumors that can develop in various endocrine glands such as the pituitary gland, thyroid gland, and adrenal gland.

Diagnosis

The diagnosis of Carney Syndrome is typically based on the presence of characteristic clinical features. Genetic testing can confirm the diagnosis by identifying mutations in the PRKAR1A gene, which is known to cause the syndrome.

Treatment

There is currently no cure for Carney Syndrome. Treatment is typically focused on managing the symptoms and preventing complications. This may involve regular monitoring and surgical removal of tumors when necessary.

Related Terms

• Genetic disorder
• Cardiac myxoma
• Lentigines
• Endocrine tumor
• PRKAR1A

External links

• Medical encyclopedia article on Carney syndrome
• Wikipedia's article - Carney syndrome

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