Carney’s complex

Abstract

Carney’s complex (CNC) is an autosomal dominant disorder, which was described in 1985 as ‘the complex of myxomas, spotty pigmentation, and endocrine overactivity’ in 40 patients (1). Since then, more than 500 index cases have been reported, resulting in better definition of the disease and the establishment of diagnostic criteria (2, 3). As implied from the initial description, CNC is not only a multiple neoplasia syndrome, but also causes a variety of pigmented lesions of the skin and mucosae. (4) Several patients described in earlier years under the acronyms NAME (nevi, atrial myxomas, and ephelides) and LAMB (lentigines, atrial myxomas, and blue nevi) probably had CNC (5, 6). Thus, lentigines, blue nevi, café-au-lait spots, and cutaneous tumours, such as myxomas, fibromas, and others, are major features of the disease (4, 7–10). The clinical characteristics of CNC have been reviewed and are presented in Box 6.15.1 (2, 9). A definite diagnosis of CNC is given if two or more major manifestations are present (4, 9, 11, 12). A number of related manifestations may accompany or suggest the presence of CNC but are not considered diagnostic of the disease (Box 6.15.1). Cutaneous manifestations constitute three of the major disease manifestations: (1) spotty skin pigmentation with a typical distribution (lips, conjunctiva, and inner or outer canthi, genital mucosa); (2) cutaneous or mucosal myxoma; and (3) blue nevi (multiple) or epithelioid blue nevus. Suggestive or associated with CNC findings but not diagnostic are: (1) intense freckling (without darkly pigmented spots or typical distribution); (2) multiple blue nevi of common type; (3) café-au-lait spots or other ‘birthmarks’; and (4) multiple skin tags or other skin lesions, including lipomas and angiofibromas. The relationship between the cutaneous and noncutaneous manifestations of CNC appears to be an essential clue to the molecular aetiology of the disease. According to the latest reports, more than half of CNC patients present with both characteristic dermatological and endocrine signs; however, a significant number of patients present with skin lesions that are only ‘suggestive’ and not characteristic of CNC (9). A recent classification based on both dermatological and endocrine markers has subgrouped CNC patients as: multisymptomatic (with extensive endocrine and skin signs); intermediate (with few dermatological and endocrine manifestations); and, paucisymptomatic (with isolated primary pigmented nodular adrenocortical disease (PPNAD) alone and no cutaneous signs) (9).