Are existing validated severity scores for epidermolysis bullosa reflective of the burden of disease in patients with epidermolysis bullosa simplex?

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https://doi.org/10.1093/ced/llad069

Dear Editor, Epidermolysis bullosa (EB) is a group of rare inherited skin fragility syndromes without cure. There are four major subtypes, of which EB simplex (EBS) accounts for approximately 70% of cases. The most common subtype is localized EBS, characterized by blistering and keratoderma confined to the palmoplantar surfaces without systemic involvement/manifestations.¹ Unlike other subtypes of EB such as dystrophic and junctional EB, in EBS disease is often localized to the hands and feet. Currently, there are two validated objective scoring systems that assess disease severity: the EB Disease Activity and Severity Index (EBDASI) and the Birmingham EB Severity (BEBS) score. However, when applied to the EBS population there appears to be inconsistent correlation with patient-reported outcome measures (PROMs) such as quality of life (QoL).²

We asked 21 patients with a genetic diagnosis of EBS to complete the EB QoL questionnaire. The EB QoL score is a validated score, specific to patients with EB.³ Severity of disease was simultaneously assessed utilizing the BEBS score and undertaken by an experienced EB dermatologist. Nineteen patients agreed to participate. Of the total, 11 were female; median age was 49 years (range 22–70). Statistical analysis was performed using IBM SPSS Statistics 28.0 (IBM SPSS, Armonk, NY, USA). The relationship between the BEBS and EB QoL scores was analysed using the Pearson correlation coefficient, for n = 19 patients. Results suggested that there is no correlation between the ­variables (r = 0.078, P = 0.751) (Figure 1). EB QoL score ranged from 1 to 33 (maximum score 51) and BEBS from 0 to 2.875 (maximum score 100).