A new clinical scoring system for epidermolysis bullosa simplex, known as the Epidermolysis Bullosa Simplex Disease Activity and Response Tool, may have shown high reliability among dermatologists when assessing disease severity from standardized photographs.
In a research letter detailing a validation study that involved nine dermatologists and 80 patients with genetically confirmed epidermolysis bullosa simplex (EBS), the novel tool demonstrated strong interrater agreement for full-body disease scoring (Kendall W = 0.81). Total scores ranged from 9.5 to 53, reflecting a broad range of disease activity. Intrarater testing showed minimal variation between initial and repeat scores, indicating consistent scoring over time.
Agreement varied by anatomic site, with the highest reliability seen for truncal blistering and the lowest for lower-extremity blistering. Across all body regions, the Epidermolysis Bullosa Simplex Disease Activity and Response Tool (EBSdart) effectively captured the extent and severity of EBS manifestations, including blistering, erosions, fissuring, and keratoderma.
The patient group included both pediatric and adult participants. Among the 80 patients, 75% were female. Half identified as White, one-fourth as Hispanic, and one-eighth each as Black or Asian. Fitzpatrick skin types I through V were represented. All of the patients had confirmed K5 or K14 variants, representing mutations in the KRT5 and KRT14 genes.
The EBSdart tool was adapted from existing epidermolysis bullosa assessment tools to address the specific variability of EBS. Dermatologists rated disease severity and affected area across five anatomic regions using a five-point Likert scale. Statistical analysis was performed using R software.
“The EBSdart demonstrated almost perfect agreement strength (W = 0.81) among physicians with diverse backgrounds and expertise in a heterogeneous participant population, supporting its proposed generalizability for use in multicenter clinical trials to evaluate the efficacy of novel therapies,” said lead study author Austin N. Johnson, MD, of the Stanford University School of Medicine, and colleagues.
The use of photographs instead of in-person evaluations limited the ability to assess subtle lesion characteristics. Variations in lighting and image angle may have affected scores. Lower agreement for palmar and plantar regions suggested that refined descriptors or live scoring could improve reliability.
Researchers indicated that the EBSdart tool provided a reproducible method for quantifying disease activity in EBS. Its standardized scoring structure can help clinicians and investigators consistently evaluate disease burden and monitor treatment response. Refinements such as quantitative descriptors and live rater training may further enhance its application in clinical practice and research.
Full disclosures can be found in the published study.
Source: JAMA Dermatology
