Multiple, recurrent, refractory vascular malformations as the primary presenting feature of a PTEN mutation

Pediatr Dermatol. 2011 Jul-Aug;28(4):466-7. doi: 10.1111/j.1525-1470.2010.01298.x. Epub 2010 Dec 2.


Complete history and physical examinations are very important in patients with a vascular anomaly. This brief report highlights the case of a five-year-old male who presented with recurrent arteriovenous malformations of the hand and forearm. The patient also demonstrated additional clinical and diagnostic imaging features consistent with a PTEN Hamartoma-Tumor syndrome. The prompt identification of individuals with this condition is important, given the more locally aggressive nature to the malformations and the increased potential for future malignant disease. The etiology and clinical features associated with PTEN Hamartoma-Tumor syndromes are reviewed in this case.

Publication types

  • Case Reports

MeSH terms

  • Arteriovenous Malformations / genetics*
  • Arteriovenous Malformations / surgery
  • Child, Preschool
  • Hamartoma Syndrome, Multiple / diagnosis
  • Hamartoma Syndrome, Multiple / genetics*
  • Humans
  • Male
  • Mutation
  • PTEN Phosphohydrolase / genetics*


  • PTEN Phosphohydrolase
  • PTEN protein, human