Journal of the American Academy of Dermatology
Volume 59, Issue 5 , Pages 801-810 , November 2008

Heterogeneity of skin manifestations in patients with Carney complex

  • Christine Mateus, MD

      Affiliations

    • Department of Dermatology, Pavillon Tarnier, Hôpital Cochin, APHP and Faculté de Médecine Paris V, Université René Descartes, Paris, France
    • Currently with the Service de Dermatologie, Institut Gustave Roussy, Villejuif.
    • ,
  • André Palangié, MD

      Affiliations

    • Department of Pathology, Hôpital Cochin, APHP and Faculté de Médecine Paris V, Université René Descartes, Paris, France
    • ,
  • Nathalie Franck, MD

      Affiliations

    • Department of Dermatology, Pavillon Tarnier, Hôpital Cochin, APHP and Faculté de Médecine Paris V, Université René Descartes, Paris, France
    • ,
  • Lionel Groussin, MD, PhD

      Affiliations

    • INSERM U567, CNRS UMR8104, Institut Cochin, Hôpital Cochin, APHP and Faculté de Médecine Paris V, Université René Descartes, Paris, France
    • Department of Endocrinology and National Reference Center for Rare Adrenal Disorders, Hôpital Cochin, APHP and Faculté de Médecine Paris V, Université René Descartes, Paris, France
    • ,
  • Xavier Bertagna, MD, PhD

      Affiliations

    • INSERM U567, CNRS UMR8104, Institut Cochin, Hôpital Cochin, APHP and Faculté de Médecine Paris V, Université René Descartes, Paris, France
    • Department of Endocrinology and National Reference Center for Rare Adrenal Disorders, Hôpital Cochin, APHP and Faculté de Médecine Paris V, Université René Descartes, Paris, France
    • ,
  • Marie-Françoise Avril, MD

      Affiliations

    • Department of Dermatology, Pavillon Tarnier, Hôpital Cochin, APHP and Faculté de Médecine Paris V, Université René Descartes, Paris, France
    • ,
  • Jérôme Bertherat, MD, PhD

      Affiliations

    • INSERM U567, CNRS UMR8104, Institut Cochin, Hôpital Cochin, APHP and Faculté de Médecine Paris V, Université René Descartes, Paris, France
    • Department of Endocrinology and National Reference Center for Rare Adrenal Disorders, Hôpital Cochin, APHP and Faculté de Médecine Paris V, Université René Descartes, Paris, France
    • ,
  • Nicolas Dupin, MD

      Affiliations

    • Department of Dermatology, Pavillon Tarnier, Hôpital Cochin, APHP and Faculté de Médecine Paris V, Université René Descartes, Paris, France
    • Corresponding Author InformationReprint requests: Nicolas Dupin, Department of Dermatology, Pavillon Tarnier, Hôpital Cochin, APHP, Faculté de Médecin René Descartes.

,Accepted 21 July 2008.

References 

  1. Carney JA, Gordon H, Carpenter PC, Shenoy BV, Go VL. The complex of myxomas, spotty pigmentation and endocrine overactivity. Medicine. 1985;64:270–283
  2. Stratakis CA, Carney JA, Lin JP, Papanicolaou DA, Karl M, Kastner DL, et al. Carney Complex, a familial multiple neoplasia and lentiginosis syndrome. Analysis of 11 kindreds and linkage to the short arm of chromosome 2. J Clin Invest. 1996;97:699–705
  3. Kirschner LS, Carney JA, Pack SD, Taymans SE, Giatzakis C, Cho YS, et al. Mutations of the gene encoding the protein kinase A type I-α regulatory subunit in patients with the Carney complex. Nat Genet. 2000;26:89–92
  4. Bossis I, Stratakis CA. Minireview: PRKAR1A: normal and abnormal functions. Endocrinology. 2004;145:5452–5458
  5. Groussin L, Kirschner LS, Vincent-Dejean C, Perlemoine K, Jullian E, Delemer B, et al. Molecular analysis of the cyclic AMP-dependent protein kinase A (PKA) regulatory subunit 1A (PRKAR1A) gene in patients with Carney complex and primary pigmented nodular adrenocortical disease (PPNAD) reveals novel mutations and clues for pathophysiology: augmented PKA signalling is associated with adrenal tumorigenesis in PPNAD. Am J Hum Genet. 2002;71:1433–1442
  6. Stratakis CA, Kirschner LS, Carney JA. Genetics of endocrine disease. Clinical and molecular features of the Carney complex: diagnostic criteria and recommendations for patient evaluation. J Clin Endocrinol Metab. 2001;86:4041–4046
  7. Bertherat J. Carney complex (CNC). Orphanet J Rare Dis. 2006;21:1–6
  8. Fitzpatrick TB. The validity and practicality of sun reaction skin types I through VI. Arch Dermatol. 1988;124:869–871
  9. Carney JA, Ferreiro JA. The epithelioid blue nevus. a multicentric, familial tumour with important associations, including cardiac myxoma and psammomatous melanotic schwannoma. Am J Surg Pathol. 1996;20:259–272
  10. Young WF, Carney JA, Musa BU, Wulffraat NM, Lens JW, Drexhage HM. Familial Cushing's syndrome due to primary pigmented nodular adrenocortical disease: reinvestigation 50 years later. N Engl J Med. 1989;321:1659–1664
  11. Zembowicz A, Carney JA, Mihm MC. Pigmented epithelioid melanocytoma, a low grade melanocytic tumor with metastatic potential indistinguishable from animal-type melanoma and epithelioid blue nevus. Am J Surg Pathol. 2004;28:31–40
  12. 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. 2000;9:3037–3046
  13. Groussin L, Horvath A, Jullian E, Boikos S, Rene-Corail F, Lefebvre H, et al. A PRKAR1A mutation associated with primary pigmented nodular adrenocortical disease in 12 kindreds. J Clin Endocrinol Metab. 2006;91:1943–1949
  14. Sanchez-Mas J, Guillo LA, Zanna P, Jimenez-Cervantes C, Garcia-Borron JC. Role of G protein-coupled receptor kinases in the homologous desensitization of the human and mouse melanocortin 1 receptors. Mol Endocrinol. 2005;19:1035–1048
  15. Busca R, Ballotti R. Cyclic AMP a key messenger in the regulation of skin pigmentation. Pigment Cell Res. 2000;13:60–69
  16. Robinson-White A, Hundley TR, Shiferaw M, Bertherat J, Sandrini F, Stratakis CA. Protein kinase-A activity in PRKAR1A-mutant cells, and regulation of mitogen-activated protein kinases ERK1/2. Hum Mol Genet. 2003;12:1475–1484
  17. Sandrini F, Stratakis C. Clinical and molecular genetics of Carney complex. Mol Gen Metabol. 2003;78:83–92
  18. Matyakhina L, Pack S, Kirschner LS, Pak E, Mannan P, Jaikumar J, et al. Chromosome 2 (2p16) abnormalities in Carney Complex tumours. J Med Genet. 2003;40:268–277
  19. Bennett KR, Heath BJ, Creswell LL, Veugelers MA, McDermott DA, Barksdale S, et al. The Carney complex: unusual skin findings and recurrent cardiac myxoma. Arch Dermatol. 2005;141:916–918
  20. Bauer AJ, Stratakis CA. The lentiginoses: cutaneous markers of systemic disease and a window to new aspects of tumourigenesis. J Med Genet. 2005;42:801–810
  21. Mavrakis K, Lippincott-Schwartz J, Stratakis CA, Bossis I. Depletion of the type IA regulatory subunit (RIalpha) of protein kinase A (PKA) in mammalian cells and tissues activates mTOR and causes autophagic deficiency. Hum Mol Genet. 2006;15:2962–2971

 This work was supported by an Agence Nationale de la Recherche grant for rare diseases (ANR-06-MRAR-002) to develop the Carney Complex Network.

 Conflicts of interest: None declared.

PII: S0190-9622(08)00922-5

doi: 10.1016/j.jaad.2008.07.032

Journal of the American Academy of Dermatology
Volume 59, Issue 5 , Pages 801-810 , November 2008

Article Tools

* Image Usage & Resolution