A PheWAS using longitudinal EHR data from 86,092 pediatric patients at Children's Hospital of Philadelphia (2006 onward) examined systemic comorbidities of excessive scarring (ES; keloids and hypertrophic scars) vs. non-ES controls, testing 3,109 phenotype codes with Bonferroni-corrected logistic regression.
662 children (0.77%) had ES; PheWAS identified 154 significant comorbidity associations across 16 disease categories — 105 previously unreported. Top categories: dermatologic (n=28, 18%; eczema, acne, pigmentary changes), respiratory (n=21, 14%; asthma, allergic rhinitis, pneumonia), sense organ disorders (n=19, 12%; otitis, refractive errors, hearing impairment), and infections (n=14, 9%; HPV, candidiasis, influenza, molluscum contagiosum).
- EHR-based diagnosis codes may misclassify ES cases or undercount mild cases not seen at CHOP. - Single tertiary children's hospital limits generalizability despite ethnic diversity. - Study design is cross-sectional/observational — causal direction of associations cannot be determined.
Children diagnosed with keloids or hypertrophic scars may warrant broader screening beyond skin, including respiratory, auditory, and infectious disease surveillance. Clinicians should consider multidisciplinary follow-up and remain alert to immune dysregulation signals in this population.
