December 20, 2005

Carnay complex

Carney complex (CNC) is characterized by skin pigmentary abnormalities, myxomas, endocrine tumors or overactivity, and schwannomas. Pale brown to black flat spots are the usual first sign of CNC and often increase in number at puberty. Heart tumors can obstruction of blood flow and cause stroke or heart failure. Other sites for tumors include the skin, thyroid, breast, oropharynx, and female genital tract. Mutations in the PRKAR1A gene and an unknown gene at chromosomal locus 2p16 cause the condition. CNC is inherited in an autosomal dominant manner. About 70% of individuals diagnosed with CNC have an affected parent; about 30% have a de novo mutation.

Posted by emily at 12:58 PM