SNP Shot: Genomic Insights

Carney complex is a condition that elevates the risk of developing various tumors. A common feature is also changes in skin pigmentation. The signs and symptoms typically manifest during adolescence or early adulthood.

Those with Carney complex face a higher risk of benign myxomas appearing in the heart (cardiac myxoma) and elsewhere. Cardiac myxomas can occur in any or multiple heart chambers. They can obstruct blood flow, leading to severe health issues or even sudden death. Myxomas can also appear on the skin as small bumps or beneath the skin as lumps, and in internal organs. In Carney complex, these myxomas are prone to recurring after removal.

Individuals affected by Carney complex are also susceptible to tumors in endocrine glands, such as the adrenal glands situated above the kidneys. A specific adrenal condition, primary pigmented nodular adrenocortical disease (PPNAD), can develop. PPNAD causes excessive cortisol production, resulting in hypercortisolism and potentially Cushing syndrome. Cushing syndrome manifests as weight gain in the face and upper body, slowed growth in children, fragile skin, fatigue, and other health problems.

Carney complex can also lead to tumors in other endocrine tissues like the thyroid, testes, and ovaries. Pituitary adenomas, tumors of the pituitary gland at the brain's base, may form, often causing overproduction of growth hormone. This leads to acromegaly, characterized by enlarged hands and feet, arthritis, and "coarse" facial features.

A rare tumor, psammomatous melanotic schwannoma, may develop in some individuals with Carney complex. This tumor originates in Schwann cells, which insulate nerves. While usually benign, it can sometimes become cancerous.

Almost all individuals with Carney complex exhibit unusual skin pigmentation. Lentigines, brown spots, may appear anywhere but are common around the lips, eyes, or genitalia. Additionally, some affected individuals have at least one blue nevus, a blue-black mole.

Inheritance:

Carney complex follows an autosomal dominant inheritance pattern. This means that only one copy of the mutated gene is needed in each cell to cause the condition. In approximately 80% of cases, the mutation is inherited from an affected parent. The remaining cases arise from new gene mutations in individuals with no family history of Carney complex.