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European Journal of Pediatrics

, 168:1401 | Cite as

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

  • Anthony Vandersteen
  • Jess Turnbull
  • Wajanat Jan
  • John Simpson
  • Sebastian Lucas
  • David Anderson
  • Jean-Pierre Lin
  • Constantine Stratakis
  • Gabriella Pichert
  • Ming LimEmail author
Short Report

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.

Keywords

Carney complex Stroke Atrial myxoma Cutaneous lentiginosis 

Notes

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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Copyright information

© Springer-Verlag 2009

Authors and Affiliations

  • Anthony Vandersteen
    • 1
  • Jess Turnbull
    • 2
  • Wajanat Jan
    • 3
  • John Simpson
    • 4
  • Sebastian Lucas
    • 5
  • David Anderson
    • 6
  • Jean-Pierre Lin
    • 7
  • Constantine Stratakis
    • 8
  • Gabriella Pichert
    • 1
  • Ming Lim
    • 7
    Email author
  1. 1.Department of Clinical GeneticsGuy’s and St. Thomas’ NHS Foundation TrustLondonUK
  2. 2.Department of PaediatricsLewisham Hospital NHS TrustLondonUK
  3. 3.Department of RadiologyGuy’s and St. Thomas’ NHS Foundation TrustLondonUK
  4. 4.Department of Paediatric CardiologyGuy’s and St. Thomas’ NHS Foundation TrustLondonUK
  5. 5.Department of HistologyGuy’s and St. Thomas’ NHS Foundation TrustLondonUK
  6. 6.Department of Cardio-thoracic SurgeryGuy’s and St. Thomas’ NHS Foundation TrustLondonUK
  7. 7.Department of Paediatric Neurology, Evelina Children’s HospitalGuy’s & St Thomas’ NHS Foundation TrustLondonUK
  8. 8.Department of Pediatric Endocrinology and GeneticsNational Institute of Child Health and Human Development, National Institutes of HealthBethesdaUSA

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