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What is Carney complex?
Carney complex (CNC) is a multi-organ system disorder that can present with a spectrum of signs and symptoms. CNC is rare, affecting less than 1000 individuals of different ethnic and racial backgrounds. The most common signs and symptoms of CNC are atypical skin coloring, and benign tumors of the skin, heart, and hormone producing glands. Most patients are diagnosed around 20 years-of-age, with females affected at a higher rate than males. A majority of CNC cases are due to changes (known as mutations or disease-causing variants) in the PRKAR1A gene. This gene encodes a protein that is involved in cell growth. Disease-causing variants in PRKAR1A can be passed down from parent to child or occur sporadically (known as a de novo variant).