Carney complex is a rare genetic disease comprised of various cutaneous lesions, multiple endocrine tumors, atrial myxomas and other associated features. A detailed and comprehensive clinical, biochemical, and imaging workup is necessary in order to identify the constitutive features of this condition and make the diagnosis.
Stemming from mutations of genes responsible for the activity of protein kinase A (a vital molecule for regulation of cell growth and proliferation of endocrine cells), the Carney complex (CNC) is a rare genetic disease with a diverse clinical presentation   . The autosomal dominant pattern of inheritance is established as the primary mode of disease transmission across generations, although de novo mutations have been described as well    . The diagnosis is usually made around 20 years of age, and the following conditions constitute this clinical entity       :
The diagnosis of CNC mandates a detailed clinical investigation that will be able to establish definite diagnostic criteria for this rare genetic disease, which includes the presence of two or more of the mentioned cardiac, cutaneous, or endocrine pathologies. One of the key elements in the workup that could significantly raise clinical suspicion is a positive family history, as studies have shown that one of the parents suffers from the disease in up to 70% of cases . After a thorough physical examination, which can confirm the presence of the cutaneous lesions by inspection of the skin and certain tumors by palpation (eg. the testes or breasts), a detailed imaging workup should follow. Ultrasonography is highly useful in detecting testicular and thyroid tumors, and cardiac ultrasonography is vital in determining the presence of intracardiac lesions, such as myxomas    . Furthermore, computed tomography (CT) or magnetic resonance imaging (MRI) of the abdomen, the thorax, and the endocranium may be crucial for identifying pituitary, adrenal, ovarian, uterine or breast tumors   . On the other hand, serum levels of IGF-1, prolactin, and a complete hormonal panel should be performed. In addition to clinical and imaging criteria, genetic studies are also included in the diagnostic criteria for CNC, and confirmation of PRKAR1A gene mutations in patients who present with any of the mentioned manifestations provides strong evidence to make the diagnosis of CNC   .