Carney Syndrome Differential Diagnoses

  • Author: Robert A Schwartz, MD, MPH; Chief Editor: William D James, MD   more...
 
Updated: Apr 17, 2012
 
 

Differential Diagnoses

Proceed to Workup
 
 
Contributor Information and Disclosures
Author

Robert A Schwartz, MD, MPH  Professor and Head, Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, University of Medicine and Dentistry of New Jersey-New Jersey Medical School

Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American College of Physicians, and Sigma Xi

Disclosure: Nothing to disclose.

Coauthor(s)

Santiago A Centurion, MD  Staff Physician, Department of Dermatology, New Jersey Medical School, University of Medicine and Dentistry of New Jersey

Santiago A Centurion, MD is a member of the following medical societies: American Academy of Dermatology, American Medical Association, and Sigma Xi

Disclosure: Nothing to disclose.

Manuel A Cruz, MA  Adjunct Assistant Professor, Department of Pathology, UMDNJ-New Jersey Medical School

Manuel A Cruz, MA is a member of the following medical societies: Sigma Xi

Disclosure: Nothing to disclose.

Specialty Editor Board

R Stan Taylor, MD  The JB Howell Professor in Melanoma Education and Detection, Departments of Dermatology and Plastic Surgery, Director, Skin Surgery and Oncology Clinic, University of Texas Southwestern Medical Center

R Stan Taylor, MD is a member of the following medical societies: American Academy of Dermatology, American College of Mohs Surgery, American Dermatological Association, American Medical Association, American Society for Dermatologic Surgery, Christian Medical & Dental Society, and Society for Investigative Dermatology

Disclosure: Nothing to disclose.

David F Butler, MD  Professor of Dermatology, Texas A&M University College of Medicine; Chair, Department of Dermatology, Director, Dermatology Residency Training Program, Scott and White Clinic, Northside Clinic

David F Butler, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, American Society for Dermatologic Surgery, American Society for MOHS Surgery, Association of Military Dermatologists, and Phi Beta Kappa

Disclosure: Nothing to disclose.

Christen M Mowad, MD  Associate Professor, Department of Dermatology, Geisinger Medical Center

Christen M Mowad, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, and Phi Beta Kappa

Disclosure: Nothing to disclose.

Glen H Crawford, MD  Assistant Clinical Professor, Department of Dermatology, University of Pennsylvania School of Medicine; Chief, Division of Dermatology, The Pennsylvania Hospital

Glen H Crawford, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, Phi Beta Kappa, and Society of USAF Flight Surgeons

Disclosure: Nothing to disclose.

Chief Editor

William D James, MD  Paul R Gross Professor of Dermatology, Vice-Chairman, Residency Program Director, Department of Dermatology, University of Pennsylvania School of Medicine

William D James, MD is a member of the following medical societies: American Academy of Dermatology and Society for Investigative Dermatology

Disclosure: Elsevier Royalty Other

Additional Contributors

The authors and editors of Medscape Reference gratefully acknowledge the contributions of previous author, Ali Haider, MD, and Walter HC Burgdorf, MD, to the development and writing of this article.

References

  1. Vezzosi D, Vignaux O, Dupin N, Bertherat J. Carney complex: Clinical and genetic 2010 update. Ann Endocrinol (Paris). Dec 2010;71(6):486-93. [Medline].

  2. Atherton DJ, Pitcher DW, Wells RS, MacDonald DM. A syndrome of various cutaneous pigmented lesions, myxoid neurofibromata and atrial myxoma: the NAME syndrome. Br J Dermatol. Oct 1980;103(4):421-9. [Medline].

  3. Rhodes AR, Silverman RA, Harrist TJ, Perez-Atayde AR. Mucocutaneous lentigines, cardiomucocutaneous myxomas, and multiple blue nevi: the "LAMB" syndrome. J Am Acad Dermatol. Jan 1984;10(1):72-82. [Medline].

  4. Carney JA. Differences between nonfamilial and familial cardiac myxoma. Am J Surg Pathol. Jan 1985;9(1):53-5. [Medline].

  5. Groussin L, Cazabat L, Rene-Corail F, Jullian E, Bertherat J. Adrenal pathophysiology: lessons from the Carney complex. Horm Res. 2005;64(3):132-9. [Medline].

  6. Wilkes D, Charitakis K, Basson CT. Inherited disposition to cardiac myxoma development. Nat Rev Cancer. Feb 2006;6(2):157-65. [Medline].

  7. Groussin L, Horvath A, Jullian E, et al. A PRKAR1A mutation associated with primary pigmented nodular adrenocortical disease in 12 kindreds. J Clin Endocrinol Metab. May 2006;91(5):1943-9. [Medline].

  8. Urban C, Weinhäusel A, Fritsch P, et al. Primary pigmented nodular adrenocortical disease (PPNAD) and pituitary adenoma in a boy with sporadic Carney complex due to a novel, de novo paternal PRKAR1A mutation (R96X). J Pediatr Endocrinol Metab. Feb 2007;20(2):247-52. [Medline].

  9. Almeida MQ, Brito LP, Domenice S, et al. [Absence of PRKAR1A loss of heterozygosity in laser-captured microdissected pigmented nodular adrenocortical tissue from a patient with Carney complex caused by the novel nonsense mutation p.Y21X.]. Arq Bras Endocrinol Metabol. Nov 2008;52(8):1257-63. [Medline].

  10. Sasaki A, Horikawa Y, Suwa T, Enya M, Kawachi S, Takeda J. Case report of familial Carney complex due to novel frameshift mutation c.597del C (p.Phe200LeufsX6) in PRKAR1A. Mol Genet Metab. Nov 2008;95(3):182-7. [Medline].

  11. Anselmo J, Medeiros S, Carneiro V, Greene E, Levy I, Nesterova M, et al. A Large Family with Carney Complex Caused by the S147G PRKAR1A Mutation Shows a Unique Spectrum of Disease Including Adrenocortical Cancer. J Clin Endocrinol Metab. Feb 2012;97(2):351-9. [Medline]. [Full Text].

  12. Bertherat J. Adrenocortical cancer in carney complex: a paradigm of endocrine tumor progression or an association of genetic predisposing factors?. J Clin Endocrinol Metab. Feb 2012;97(2):387-90. [Medline].

  13. Vandersteen A, Turnbull J, Jan W, et al. Cutaneous signs are important in the diagnosis of the rare neoplasia syndrome Carney complex. Eur J Pediatr. Nov 2009;168(11):1401-4. [Medline].

  14. Lee B, Sir JJ, Park SW, et al. Right-sided myxomas with extramedullary hematopoiesis and ossification in Carney complex. Int J Cardiol. Nov 12 2008;130(2):e63-5. [Medline].

  15. Kirschner LS, Carney JA, Pack SD, et al. Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex. Nat Genet. Sep 2000;26(1):89-92. [Medline].

  16. Kirschner LS, Sandrini F, Monbo J, Lin JP, Carney JA, Stratakis CA. Genetic heterogeneity and spectrum of mutations of the PRKAR1A gene in patients with the carney complex. Hum Mol Genet. Dec 12 2000;9(20):3037-46. [Medline].

  17. Libé R, Horvath A, Vezzosi D, Fratticci A, Coste J, Perlemoine K, et al. Frequent phosphodiesterase 11A gene (PDE11A) defects in patients with Carney complex (CNC) caused by PRKAR1A mutations: PDE11A may contribute to adrenal and testicular tumors in CNC as a modifier of the phenotype. J Clin Endocrinol Metab. Jan 2011;96(1):E208-14. [Medline]. [Full Text].

  18. Gošev I, Paic F, Duric Z, Gošev M, Ivcevic S, Jakuš FB, et al. Cardiac myxoma the great imitators: Comprehensive histopathological and molecular approach. Int J Cardiol. Jan 11 2012;[Medline].

  19. Bireta C, Popov AF, Schotola H, Trethowan B, Friedrich M, El-Mehsen M, et al. Carney-Complex: multiple resections of recurrent cardiac myxoma. J Cardiothorac Surg. Feb 3 2011;6:12. [Medline]. [Full Text].

  20. Guerrero AL, Florez S, Carrascal Y, Maroto L. [Ischemic stroke as a presentation form of recurrence of cardiac myxoma in the Carney complex]. Rev Clin Esp. Apr 2010;210(4):201-2. [Medline].

  21. Briassoulis G, Kuburovic V, Xekouki P, Patronas N, Keil MF, Lyssikatos C, et al. Recurrent Left Atrial Myxomas in Carney Complex: A Genetic Cause of Multiple Strokes that can be Prevented. J Stroke Cerebrovasc Dis. Feb 15 2012;[Medline].

  22. Barlow JF, Abu-Gazeleh S, Tam GE, et al. Myxoid tumor of the uterus and right atrial myxomas. S D J Med. Jul 1983;36(7):9-13. [Medline].

  23. Carney JA, Ferreiro JA. The epithelioid blue nevus. A multicentric familial tumor with important associations, including cardiac myxoma and psammomatous melanotic schwannoma. Am J Surg Pathol. Mar 1996;20(3):259-72. [Medline].

  24. Carney JA, Gordon H, Carpenter PC, Shenoy BV, Go VL. The complex of myxomas, spotty pigmentation, and endocrine overactivity. Medicine (Baltimore). Jul 1985;64(4):270-83. [Medline].

  25. Carney JA, Headington JT, Su WP. Cutaneous myxomas. A major component of the complex of myxomas, spotty pigmentation, and endocrine overactivity. Arch Dermatol. Jul 1986;122(7):790-8. [Medline].

  26. Carney JA, Hruska LS, Beauchamp GD, Gordon H. Dominant inheritance of the complex of myxomas, spotty pigmentation, and endocrine overactivity. Mayo Clin Proc. Mar 1986;61(3):165-72. [Medline].

  27. Carney JA, Stratakis CA. Epithelioid blue nevus and psammomatous melanotic schwannoma: the unusual pigmented skin tumors of the Carney complex. Semin Diagn Pathol. Aug 1998;15(3):216-24. [Medline].

  28. Casey M, Mah C, Merliss AD, et al. Identification of a novel genetic locus for familial cardiac myxomas and Carney complex. Circulation. Dec 8 1998;98(23):2560-6. [Medline].

  29. Dao LN, Scheithauer BW, Erlandson RA, Young WF Jr, Aidan Carney J. Divergent myoid, neuroendocrine, and perineural differentiation in a nasal tumor of a patient with Carney complex. Am J Surg Pathol. Jan 2008;32(1):167-71. [Medline].

  30. Kirschner LS, Carney JA, Pack SD, et al. Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex. Nat Genet. Sep 2000;26(1):89-92. [Medline].

  31. Proppe KH, Scully RE. Large-cell calcifying Sertoli cell tumor of the testis. Am J Clin Pathol. Nov 1980;74(5):607-19. [Medline].

  32. Rees JR, Ross FG, Keen G. Lentiginosis and left atrial myxoma. Br Heart J. Aug 1973;35(8):874-6. [Medline].

  33. Rhodes AR. The risk of malignant melanoma arising in congenital melanocytic nevi. An argument against the assignment of risk based on size alone. Am J Dermatopathol. Summer 1984;6 Suppl:184-8. [Medline].

  34. Schweizer-Cagianut M, Froesch ER, Hedinger C. Familial Cushing's syndrome with primary adrenocortical microadenomatosis (primary adrenocortical nodular dysplasia). Acta Endocrinol (Copenh). Aug 1980;94(4):529-35. [Medline].

  35. Schweizer-Cagianut M, Salomon F, Hedinger CE. Primary adrenocortical nodular dysplasia with Cushing's syndrome and cardiac myxomas. A peculiar familial disease. Virchows Arch A Pathol Anat Histol. 1982;397(2):183-92. [Medline].

  36. Shenoy BV, Carpenter PC, Carney JA. Bilateral primary pigmented nodular adrenocortical disease. Rare cause of the Cushing syndrome. Am J Surg Pathol. May 1984;8(5):335-44. [Medline].

  37. Sigg C, Schweizer-Cagianut M, Hedinger C. [Morphology of the adrenal gland in primary hyperaldosteronism]. Schweiz Med Wochenschr. Mar 12 1983;113(10):357-67. [Medline].

  38. Stratakis CA, Kirschner LS, Carney JA. Carney complex: diagnosis and management of the complex of spotty skin pigmentation, myxomas, endocrine overactivity, and schwannomas. Am J Med Genet. Nov 2 1998;80(2):183-5. [Medline].

  39. Stratakis CA, Papageorgiou T, Premkumar A, et al. Ovarian lesions in Carney complex: clinical genetics and possible predisposition to malignancy. J Clin Endocrinol Metab. Nov 2000;85(11):4359-66. [Medline].

 
Previous
Next
 
A pedunculated flesh-colored cutaneous myxoma that is 1.5 cm in diameter on trunk. Courtesy of Dermatology, NYU, and Ann Stoecker, medical photographer.
Polypoid neoplasm of fibrillary collagen and uniform stellate cells within abundant connective tissue mucin. Note telangiectasia and ramification of tumor as strands through a myxoid dermis (hematoxylin-eosin). Courtesy of Dermatology, NYU School of Medicine; photography by Anca Croitoru, MD, and Scott Sanders, MD.
 
 
 
All material on this website is protected by copyright, Copyright © 1994-2012 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.

DISCLAIMER: The content of this Website is not influenced by sponsors. The site is designed primarily for use by qualified physicians and other medical professionals. The information contained herein should NOT be used as a substitute for the advice of an appropriately qualified and licensed physician or other health care provider. The information provided here is for educational and informational purposes only. In no way should it be considered as offering medical advice. Please check with a physician if you suspect you are ill.