Rare heritable disorder including cutaneous lentigines, myxomas of skin, subcutaneous tissueand heart and endocrine neoplasms. Its features overlap those of other multiple endocrine neoplasias and hamartomatoses, Peutz-Jeghers syndrome (PJS) in particular.

(The Carney syndrome terminology is avoided because it can be confused with the Carney triad.)

Synopsis:

 cutaneous lentigines
 blue nevi (epithelioid blue nevus) (#10847545#, #9711672#)
 psammomatous melanotic schwannoma (#9711672#, #8434979#)
 myxomas of skin, subcutaneous tissue, breast and heart
 superficial angiomyxoma (#12532046#, #12532046#)
 endocrine neoplasms

• primary pigmented nodular adrenocortical disease (PPNAD) with familial Cushing's syndrome (#12424709#)
• adrenal cortex adenoma
• pituitary adenoma
• testis
• thyroid

 schwannomas
 osteochondromyxoma of bone (#11176065#)
 ovarian cysts
 ovarian carcinomas

• endometrioid adenocarcinoma
• mucinous adenocarcinoma

Etiology

 Locus CNC1 (MIM.160980) at 17q22-24: mutations in the PRKAR1A gene (MIM.188830) coding for the cyclic AMP-dependent protein kinase A (PKA) regulatory subunit 1A (#12424709#)

 Locus CNC2 (MIM.605244) at 2p16 (#12676898#)

References

 Bossis I, Stratakis CA. PRKAR1A: normal and abnormal functions. Endocrinology. 2004 Dec;145(12):5452-8. PMID: #15331577#

 Stratakis CA, Matyakhina L, Courkoutsakis N, Patronas N, Voutetakis A, Stergiopoulos S, Bossis I, Carney JA. Pathology and molecular genetics of the pituitary gland in patients with the 'complex of spotty skin pigmentation, myxomas, endocrine overactivity and schwannomas' (Carney complex). Front Horm Res. 2004;32:253-64. PMID: #15281351#

 Bossis I, Voutetakis A, Bei T, Sandrini F, Griffin KJ, Stratakis CA. Protein kinase A and its role in human neoplasia: the Carney complex paradigm. Endocr Relat Cancer. 2004 Jun;11(2):265-80. PMID: #15163302#