Clinical Quiz: Diagnosing Epidermolysis Bullosa

The week leading up to and during the American Academy of Dermatology (AAD) 2024 Annual Meeting, as well as the Society for Pediatric Dermatology (SPD) Pre-AAD meeting has been a viable moment to reflect on recent major advances in the treatment capability of rare skin diseases including epidermolysis bullosa (EB).

At a time when 2 agents—beremagene geperpavec (B-VEC; VYJUVEK) and birch triterpenes topical gel (Filsuvez)—recently received US Food and Drug Administration (FDA) and a third—pz-cel—is awaiting decision this year, dermatologists will have a suddenly robust armamentarium for the rare, blistering and potentially fatal condition.

All the same, greater emphasis must be put on timely and adequate diagnostic practices in order to optimize the benefit of new treatments. This latest HCPLive Clinical Quiz tests readers’ knowledge on the diagnosis of EB, based on recommendations published in The British Journal of Dermatology in 2019.

Do you know how to proceed through EB diagnoses? Take the quiz to find out!

Which gene is associated with junctional epidermolysis bullosa and can have pathogenic sequence variants such as nonsense, frameshift, and missense mutations?

References

^{Has C, Liu L, Bolling MC, Charlesworth AV, El Hachem M, Escámez MJ, Fuentes I, Büchel S, Hiremagalore R, Pohla-Gubo G, van den Akker PC, Wertheim-Tysarowska K, Zambruno G. Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa. Br J Dermatol. 2020 Mar;182(3):574-592. doi: 10.1111/bjd.18128. Epub 2019 Aug 9. PMID: 31090061; PMCID: PMC7064925.}