National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Carney Complex is not the name you expected.
Carney complex is a rare genetic disorder characterized by multiple benign tumors (multiple neoplasia) most often affecting the heart, skin and endocrine system and abnormalities in skin coloring (pigment) resulting in a spotty appearance to the skin of affected areas. Benign tumors of connective tissue (myxomas) are common in individuals with Carney complex and, most often, are found in the heart where they can potentially cause serious, life-threatening complications including stroke, valvular obstruction or heart failure. A wide variety of endocrine abnormalities potentially can occur in Carney complex affecting a variety of glands. Additional tumors include myxomas affecting the skin and nerve sheath tumors (schwannomas). Skin pigment abnormalities include tiny flat (freckle-like) black or brown spots (multiple lentigines) and small, blue or bluish-black spots (blue nevi). The specific symptoms and severity of Carney complex can vary greatly from one person to another. In many cases, Carney complex is due to mutations of the PRKAR1A gene. The mutation can occur randomly for no apparent reason (i.e., new mutation) or be inherited as an autosomal dominant trait.
Carney complex is a different disorder from Carney triad. Carney triad encompasses three types of tumors: a gastric stromal sarcoma; functioning extra-adrenal paragangliomas; and pulmonary chondromas. Although these two disorders are completely unrelated, both have sometimes been referred to as Carney syndrome, causing confusion. This report deals solely with Carney complex.
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This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
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Last Updated: 2/20/2014
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