What are the symptoms of Carney complex?

Carney complex can affect many different parts of the body, from the skin to the heart.1

A key symptom of Carney complex is freckle-like skin spots, called lentigines. Although they resemble freckles, lentigines may appear at birth and do not always darken in the sun. Lentigines usually appear on the lips, eyes, and mucous membranes. Lentigines get darker during puberty but tend to fade after age 40. People with Carney complex may also have moles, called blue nevi, and café-au-lait spots (flat spots of color) on the skin.1,2

Other symptoms of Carney complex depend on the location of tumors, their size, and how the tumors affect the function of body organs and tissues.

In Carney complex, tumors may grow in the following areas: on connective tissues, such as skin and muscle; on endocrine glands, such as adrenals or pituitary; on reproductive organs, such as testes or ovaries; and on or around nerves and bones. Select a tumor location to learn more.

Myxomas are noncancerous growths of the body’s connective tissue, including skin and muscle. They grow anywhere in the body except the hands and feet.

Skin (cutaneous) myxomas

Myxomas on or under the skin are small and colorless. They may appear in infancy and grow in areas such as the eyelids, ear canals, mouth, throat, nipples, and female genital area. They usually do not have symptoms associated with them. People with Carney complex who have skin myxomas may also have heart myxomas.1

Heart (cardiac) myxomas

Myxomas on the heart or in the heart’s chambers may grow in people of all ages with Carney complex. Large cardiac myxomas can cause blood clots, uneven heart rhythm, or heart failure and other complications, such as stroke.1 Surgery may be needed to remove cardiac myxomas to prevent these problems. Cardiac myxomas may cause up to one-quarter of deaths in people with Carney complex.

Breast myxomas

Myxomas of the breast are very common among females with Carney complex, and they often grow in both breasts.2 A special type of imaging test helps healthcare providers tell the difference between myxomas and other breast lumps to prevent unneeded biopsies.

Endocrine glands make hormones, chemical messengers that tell other body organs what to do and when to do it.

Adrenal glands

Adrenal glands, a pair of walnut-sized organs above the kidneys, release hormones to control different body functions. Adrenal gland tumors are usually functioning, meaning they make hormones, which leads to different symptoms.

Cushing syndrome occurs when the adrenal glands make too much cortisol. Symptoms syndrome can include obesity above the waist (but with thin arms), a round face, skin changes, weak bones and muscles, and slow growth rate in children.

Carney complex tumors on the adrenal glands, called primary pigmented nodular adrenocortical disease (PPNAD), can also lead to Cushing syndrome. PPNAD-caused Cushing syndrome may have no symptoms or may have symptoms that come and go.3 If untreated, PPNAD can also cause hypertension (high blood pressure), diabetes (high blood sugar), osteoporosis (weak bones), or slow growth in children.

There are other adrenal gland disorders in addition to Cushing syndrome and PPNAD. Learn more in the Adrenal Gland Disorders section of our website.

Thyroid gland

Carney complex may cause nodules (lumps) on the thyroid that appear as small cysts or fluid-filled sacs on ultrasound. Nodules can grow into larger adenomas, so it is important to monitor them closely. Some symptoms of thyroid adenomas include weight loss, excessive sweating, and fatigue. In rare cases, thyroid adenomas may develop into thyroid cancer in people with Carney complex.3

Pituitary gland

This tiny organ at the base of the brain controls growth, stress response, reproductive functions, and other vital body activities. Tumors on the pituitary gland, called adenomas, occur in about 1 in 10 people with Carney complex.2

These adenomas are often functioning, leading to too much hormone, and the symptoms differ depending on the hormone being overproduced. For example, too much growth hormone causes gigantism or acromegaly, a type of excess growth. In girls and women, too much prolactin causes the menstrual cycle to stop. Visit the What are the symptoms of pituitary tumors? section to learn more.

Testicular tumors, called large-cell calcifying Sertoli cell tumors (LCCSCT), occur in about one-third of males with Carney complex. LCCSCTs are small deposits of calcium that may look hardened, like bone, on an ultrasound of the testicles.3 LCCSCTs are almost always benign and may cause precocious (early) puberty or breast tissue enlargement (gynecomastia). Depending on their size, LCCSCTs may interfere with fertility by blocking the tubules that transport sperm.4,5 LCCSCTs may also cause the testes to become unusually large, a condition called macroorchidism.

Although it is not very common, females with Carney complex may have cysts on their ovaries or growths in the milk ducts of the breast, called ductal adenomas. In very rare cases, ovarian cysts may develop into ovarian cancer.3

Nerve cells are surrounded with insulating cells called Schwann cells. When Carney complex affects Schwann cells, growths that look like bundles of nerve cells appear in scans. These growths are called psammomatous melanotic schwannomas. They appear most often in the intestinal tract and along the spinal nerves and may cause pain or discomfort.

An osteochondromyxoma (tumor of the bone) may also occur in patients with Carney complex.

Both tumor types are rare and occur in only a small number of people with Carney complex.1,3,6

Citations

  1. MedlinePlus. (2020). Carney Complex. Retrieved November 11, 2021, from https://medlineplus.gov/genetics/condition/carney-complex/
  2. Kamilaris, C., Faucz, F. R., Voutetakis, A., & Stratakis, C. A. (2019). Carney complex. Experimental and Clinical Endocrinology & Diabetes: Official Journal, German Society of Endocrinology [and] German Diabetes Association, 127(2-03), 156–164. Retrieved March 7, 2022, from https://pubmed.ncbi.nlm.nih.gov/30428497/
  3. National Organization for Rare Disorders. (2018). Carney Complex. Retrieved November 11, 2021, from https://rarediseases.org/rare-diseases/carney-complex/ external link
  4. Brown, B., Ram, A., Clayton, P., & Humphrey, G. (2007). Conservative management of bilateral Sertoli cell tumors of the testicle in association with the Carney complex: A case report. Journal of Pediatric Surgery, 42(9), E13–E15. Retrieved April 14, 2022, from https://pubmed.ncbi.nlm.nih.gov/17848226/
  5. Online Mendelian Inheritance in Man®: An Online Catalog of Human Genes and Genetic Disorders. (2010). Carney Complex, Type 1; CNC1. Retrieved April 14, 2022, from https://omim.org/entry/160980 external link
  6. Stratakis, C. A., & Matyakhina, L. (2004). Carney complex (CNC). Atlas of Genetics and Cytogenetics in Oncology and Haematology, 8(4), 336–339. Retrieved November 11, 2021, from http://atlasgeneticsoncology.org/Kprones/CarneyComplexID10080.html external link
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