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Visualizing Scar Development Using SCAD Assay - An Ex-situ Skin Scarring Assay
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Scarring in Patients With PIK3CA-Related Overgrowth Syndromes
Jack E Steiner1,2, Catherine E Cottrell3, Jenna L Streicher4
1Department of Dermatology, Medical College of Wisconsin, Milwaukee.
JAMA Dermatology
|March 9, 2018
Summary
Patients with PIK3CA-related overgrowth frequently experience excessive scarring after surgery. Discussing this risk preoperatively is crucial for managing expectations and outcomes in this patient population.
Area of Science:
- Medical Genetics
- Dermatology
- Plastic Surgery
Background:
- Somatic overgrowth conditions often necessitate surgical intervention for functional and cosmetic reasons.
- Scarring outcomes in patients with somatic overgrowth have not been previously documented.
Purpose of the Study:
- To determine the incidence of abnormal scarring in patients with somatic overgrowth and confirmed PIK3CA gene mutations.
- To investigate the relationship between PIK3CA variants and surgical scarring outcomes.
Main Methods:
- Retrospective analysis of scarring in patients with PIK3CA-related overgrowth.
- Review of medical records and clinical photographs for scar assessment.
- Next-generation sequencing to identify pathogenic PIK3CA variants.
Main Results:
- Of 25 patients with PIK3CA variants, 6 underwent surgery.
- Four out of six (67%) patients with PIK3CA-related overgrowth and prior surgery developed excessive scarring.
- Abnormal scarring was consistently observed within the overgrowth tissue itself.
Conclusions:
- Excessive scarring is a common complication in patients with PIK3CA-related overgrowth syndromes following surgical procedures.
- Preoperative counseling regarding the risk of abnormal scarring is recommended.
- The PI3K-Akt-mTOR pathway may contribute to excessive scarring in these patients.
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