title: Multiple, recurrent, refractory vascular malformations as the primary presenting feature of a PTEN mutation.
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.
authors.affiliation: Division of Plastic Surgery, Baylor College of Medicine, Houston, Texas 77006, USA.
authors.forename: Safa E
authors.initials: SE
authors.lastname: Sharabi
authors.forename: John C
authors.initials: JC
authors.lastname: Koshy
authors.forename: Larry H
authors.initials: LH
authors.lastname: Hollier
mesh_terms: D001165:Arteriovenous Malformations / Q000235:genetics* / Q000601:surgery; D002675:Child, Preschool; D006223:Hamartoma Syndrome, Multiple / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D051059:PTEN Phosphohydrolase / Q000235:genetics*
chemical_list: D051059:PTEN Phosphohydrolase; C494929:PTEN protein, human