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Cutaneous signs are important in the diagnosis of the rare neoplasia syndrome Carney complex

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Abstract

We describe a 15-year-old boy who presented with a stroke. Brain MRI imaging showed thalamic and multiple cerebral infarcts. An echocardiogram revealed multiple atrial masses, which were resected. Histological examination confirmed multiple atrial myxomas. Further clinical examination of the patient revealed subtle buccal and peri-oral lentigenes. The diagnosis of Carney complex was made clinically. The patient was subsequently diagnosed with testicular seminomas and a cutaneous angiomyxoma. Genetic investigation revealed a pathological mutation in the PRKAR1A gene. We review the reported manifestations and presentations of Carney complex, along with current diagnostic guidelines. We emphasise the importance of recognising the cutaneous manifestations of this rare autosomal dominantly inherited neoplasia syndrome.

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References

  1. Brown B, Ram A, Clayton P, Humprey G (2007) Conservative management of bilateral Sertoli cell tumours of the testicle in association with the Carney complex: a case report. J Pediatr Surg 42:E13–E15

    Article  PubMed  CAS  Google Scholar 

  2. Carney JA, Gordon H, Carpenter PC et al (1985) The complex of myxomas, spotty pigmentation, and endocrine overactivity. Medicine (Baltimore 64(4):270–283 Jul

    CAS  Google Scholar 

  3. Gennari M, Stratakis CA, Hovarth A et al (2008) A novel PRKAR1A mutation with hepatocellular carcinoma in a young patient and a variable Carney complex phenotype in affected subjects in older generations. Clin Endocrinol (Oxf 69:751–755

    Article  CAS  Google Scholar 

  4. Giralsi FP, Fatti LM, Berlota et al (2007) Carney’s complex with acromegaly as the leading clinical condition. Clin Endocrinol (Oxf 68:322

    Google Scholar 

  5. Horvath A, Bossis I, Giatzakis C et al (2008) Large deletions of the PRKAR1A gene in Carney complex. Clin Cancer Res 14:388–395

    Article  PubMed  CAS  Google Scholar 

  6. Irani AD, Estrera AL, Buja LM, Safi H (2008) Biatrial myxoma: a case report and review of the literature. J Card Surg 23:385–390

    Article  PubMed  Google Scholar 

  7. Kirschner LS, Carney JA, Pack SD et al (2000) Mutations of the gene encoding the protein kinase A type I-α regulatory subunit in patients with the Carney complex. Nat Genet 26:89–92

    Article  PubMed  CAS  Google Scholar 

  8. O’Rourke F, Dean N, Mouradian MS et al (2003) Atrial myxoma as a cause of stroke: case report and discussion. Can Med Assoc J 169(10):1049–1051

    Google Scholar 

  9. Puntila J, Hakala T, Salminen J, Pihkala J (2006) Positive genetic test led to an early diagnosis of myxoma in a 4-year-old boy. Interact CardioVasc Thorac Surg 5:662–663

    Article  PubMed  Google Scholar 

  10. Ryou KS, Lee SH, Park SH (2008) Multiple fusiform myxomatous cerebral aneurysms in a patient with Carney complex. J Neurosurg 109:318–320

    Article  PubMed  Google Scholar 

  11. Sallai A, Hosszu E, Gergics P et al (2008) Orolabial signs are important clues for the diagnosis of the rare endocrine syndrome MEN 2B. Presentation of two unrelated cases. Eur J Pediatr 167:441–446

    Article  PubMed  Google Scholar 

  12. Sosibatros B, Stratakis CA (2007) Carney complex, the first 20 years. Curr Opin Oncol 19:24–29

    Article  CAS  Google Scholar 

  13. Stratakis CA (2000) Genetics of Peutz–Jeghers syndrome, Carney complex and other familial lentiginoses. Horm Res 54:334–343

    Article  PubMed  CAS  Google Scholar 

  14. Stratakis CA, Kirschner LS, Carney JA (2001) Clinical and molecular features of the Carney complex: diagnostic criteria and recommendations for patient evaluation. J Clin Endocrin Metab 86(9):4041–4046

    Article  CAS  Google Scholar 

  15. Swartz MF, Lutz CJ, Chandan VS et al (2006) Atrial myxomas: pathological types, tumor location, and presenting symptoms. J Card Surg 21:435–440

    Article  PubMed  Google Scholar 

  16. Veugelers M, Bressan M, McDermott DA et al (2004) Mutation of perinatal myosin heavy chain associated with a Carney complex variant. New Engl J Med 351:460–469

    Article  PubMed  CAS  Google Scholar 

  17. Wilkes D, McDermott DA, Basson CT (2005) Clinical phenotypes and molecular genetic mechanisms of Carney complex. Lancet Oncol 6:501–508

    Article  PubMed  CAS  Google Scholar 

  18. Zahedi RG, Wald DS, Ohri S (2006) Carney complex. Ann Thorac Surg 82:320–322

    Article  PubMed  Google Scholar 

Download references

Acknowledgement

This work was supported in part by the National Institutes of Health, Eunie Kennedy Shriver National Institute of Child Health & Human Development intramural project Z01-HD-000642-04 to Dr. C.A. Stratakis. We thank the medical photographers at Guy’s and St. Thomas’ NHS Foundation Trust.

Conflict of interest statement

The authors declare that they have no conflict of interest.

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Authors and Affiliations

  1. Department of Clinical Genetics, Guy’s and St. Thomas’ NHS Foundation Trust, London, UK

    Anthony Vandersteen & Gabriella Pichert

  2. Department of Paediatrics, Lewisham Hospital NHS Trust, London, UK

    Jess Turnbull

  3. Department of Radiology, Guy’s and St. Thomas’ NHS Foundation Trust, London, UK

    Wajanat Jan

  4. Department of Paediatric Cardiology, Guy’s and St. Thomas’ NHS Foundation Trust, London, UK

    John Simpson

  5. Department of Histology, Guy’s and St. Thomas’ NHS Foundation Trust, London, UK

    Sebastian Lucas

  6. Department of Cardio-thoracic Surgery, Guy’s and St. Thomas’ NHS Foundation Trust, London, UK

    David Anderson

  7. Department of Paediatric Neurology, Evelina Children’s Hospital, Guy’s & St Thomas’ NHS Foundation Trust, Lambeth Palace Road, London, SE1 7EH, UK

    Jean-Pierre Lin & Ming Lim

  8. Department of Pediatric Endocrinology and Genetics, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, USA

    Constantine Stratakis

Authors
  1. Anthony Vandersteen
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  2. Jess Turnbull
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  3. Wajanat Jan
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  4. John Simpson
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  5. Sebastian Lucas
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  6. David Anderson
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  7. Jean-Pierre Lin
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  8. Constantine Stratakis
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  9. Gabriella Pichert
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  10. Ming Lim
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Corresponding author

Correspondence to Ming Lim.

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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 168, 1401–1404 (2009). https://doi.org/10.1007/s00431-009-0935-y

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  • DOI: https://doi.org/10.1007/s00431-009-0935-y

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