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

AI Article Synopsis

  • Complete history and physical exams are crucial for patients with vascular anomalies, as shown in a case involving a five-year-old boy with recurrent arteriovenous malformations in his hand and forearm.
  • The patient’s symptoms and imaging results suggested he had PTEN Hamartoma-Tumor syndrome, which is linked to more aggressive malformations and a higher risk of cancer later on.
  • The report reviews the causes and clinical signs associated with PTEN Hamartoma-Tumor syndromes for better understanding and early detection.

Article Abstract

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.

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Source
http://dx.doi.org/10.1111/j.1525-1470.2010.01298.xDOI Listing

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