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Brief Report
April 2018

Scarring in Patients With PIK3CA-Related Overgrowth Syndromes

Author Affiliations
  • 1Department of Dermatology, Medical College of Wisconsin, Milwaukee
  • 2University of Rochester School of Medicine and Dentistry, Rochester, New York
  • 3Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio
  • 4Department of Dermatology, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania
  • 5Department of Plastic Surgery, Medical College of Wisconsin, Milwaukee
  • 6Department of Orthopedic Surgery, Medical College of Wisconsin, Milwaukee
  • 7Department of Radiology, Medical College of Wisconsin, Milwaukee
  • 8Departments of Dermatology and Pediatrics, Medical College of Wisconsin, Milwaukee
  • 9Department of Dermatology, Mayo Clinic, Rochester, Minnesota
  • 10Department of Dermatology, Johns Hopkins School of Medicine, Baltimore, Maryland
JAMA Dermatol. 2018;154(4):452-455. doi:10.1001/jamadermatol.2017.6189
Key Points

Question  What is the frequency of excessive scarring after surgery in patients with PIK3CA-related overgrowth?

Findings  In this observational study, 4 of 6 patients with PIK3CA-related overgrowth developed excessive scarring following surgery. All abnormal scars were located in phenotypically affected tissue.

Meaning  Excessive scarring is common in PIK3CA-related overgrowth, and patients should be counseled on this risk preoperatively.

Abstract

Importance  Patients with somatic overgrowth commonly require surgical intervention to preserve function and improve cosmesis. To our knowledge no observation of scarring outcomes in this population has been published to date.

Objective  To observe the frequency of abnormal scarring in patients with somatic overgrowth and sequencing-verified mutations in the PIK3CA gene.

Design, Setting, and Participants  This retrospective study evaluated scarring outcomes in patients with PIK3CA-related overgrowth. Samples of affected tissue were sequenced between July 2015 and October 2016. 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. and D.M.K.) to confirm abnormal scarring. 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. All patients considered for the study were diagnosed with somatic overgrowth and previously had affected tissue sent for next-generation sequencing. Those with pathogenic PIK3CA variants and 1 or more prior surgical procedures were reviewed.

Main Outcomes and Measures  Presence of excessive scarring in patients with PIK3CA overgrowth.

Results  A total of 57 patients with segmental overgrowth syndromes were sequenced. Of the 57 patients, 25 (44%) had pathogenic or likely pathogenic variants in PIK3CA. Of those with pathogenic PIK3CA variants, 6 (24%) had past surgical procedures, all with preoperative and postoperative photographs. Of 6 patients with PIK3CA-related overgrowth and a history of 1 or more surgical procedure, 4 (67%) developed excessive scarring. The cohort with abnormal scarring comprised 3 females and 1 male, with a median age of 8.5 years. All abnormal scarring occurred in affected overgrowth tissue. Three of the 4 patients developed the excessive scarring after debulking procedures for overgrowth and/or vascular malformations of the upper or lower extremity.

Conclusions and Relevance  Excessive scarring occurred frequently in patients with PIK3CA-related overgrowth syndromes. The risk of abnormal scarring should therefore be discussed preoperatively. Given the activating nature of these PIK3CA variants, we suggest that the excessive scarring may be owing in part to up-regulation of the PI3K-Akt-mTOR pathway. Additional studies are needed to assess scarring outcomes in patients with other types of overgrowth.

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