12/24/2023 0 Comments Overgrowth free alpha key![]() The risk of abnormal scarring should therefore be discussed preoperatively. Three of the 4 patients developed the excessive scarring after debulking procedures for overgrowth and/or vascular malformations of the upper or lower extremity.Ĭonclusions and Relevance Excessive scarring occurred frequently in patients with PIK3CA-related overgrowth syndromes. All abnormal scarring occurred in affected overgrowth tissue. The cohort with abnormal scarring comprised 3 females and 1 male, with a median age of 8.5 years. Of 6 patients with PIK3CA-related overgrowth and a history of 1 or more surgical procedure, 4 (67%) developed excessive scarring. Of those with pathogenic PIK3CA variants, 6 (24%) had past surgical procedures, all with preoperative and postoperative photographs. Of the 57 patients, 25 (44%) had pathogenic or likely pathogenic variants in PIK3CA. ![]() Results A total of 57 patients with segmental overgrowth syndromes were sequenced. Main Outcomes and Measures Presence of excessive scarring in patients with PIK3CA overgrowth. Those with pathogenic PIK3CA variants and 1 or more prior surgical procedures were reviewed. All patients considered for the study were diagnosed with somatic overgrowth and previously had affected tissue sent for next-generation sequencing. Analysis of medical records and photographs was performed between April 2017 and June 2017 by a multidisciplinary team from dermatology, plastic surgery, orthopedic surgery, radiology, and genetics departments. and D.M.K.) to confirm abnormal scarring. Medical records from multiple large academic tertiary care centers were reviewed for surgical history and scar descriptions, and clinical photographs were assessed by 2 surgeons (J.N.J. Samples of affected tissue were sequenced between July 2015 and October 2016. ![]() Objective To observe the frequency of abnormal scarring in patients with somatic overgrowth and sequencing-verified mutations in the PIK3CA gene.ĭesign, Setting, and Participants This retrospective study evaluated scarring outcomes in patients with PIK3CA-related overgrowth. To our knowledge no observation of scarring outcomes in this population has been published to date. Importance Patients with somatic overgrowth commonly require surgical intervention to preserve function and improve cosmesis.
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