NAME SYNDROME: CARNEY COMPLEX
Carney complex is an autosomal dominant multiple endocrine neoplasia and lentiginosis syndrome characterized by spotty skin pigmentation; cardiac, skin, and breast myxomas; and a variety of endocrine Tumours. The skin features include common and blue nevi and psammomatous melanotic schwannomas. Endocrine overactivity occurs. Pituitary Tumours, adrenal cortical rest Tumours, pheochromocytoma, Leydig cell Tumours, large cell calcifying Sertoli cell Tumours of the testis, schwannomas, and myxoid breast fibroadenomas and ductal adenomas have all been described in this condition (Carney 1995). The most common manifestation is an ACTH-independent Cushing’s syndrome due to primary pigmented nodular adrenocortical disease (PPNAD).
The condition is genetically heterogeneous. Mutations in the gene encoding the protein kinase A type 1-alpha regulatory subunit (PRKAR1A) on chromosome 17q have been identified in about three quarters of affected individuals (Kirschner et al. 2000a, b; Veugelers et al. 2004); other families show linkage to chromosome 2p16 (Stratakis et al. 1996), and chromosome 2 abnormalities have been described in the Tumours (Matyakhina et al. 2003).
This syndrome is distinct from the Carney triad, an association between stromal gastric sarcoma, pulmonary chondroma, and extra-adrenal paraganglioma (Carney 1999).