Epidermolysis Bullosa Simplex Caused by Distal Truncation of BPAG1-e: An Intermediate Generalized Phenotype with Prurigo Papules

    Iana Turcan, Anna M.G. Pasmooij, Antoni Gostyński, Peter C. van den Akker, Henny H. Lemmink, Gilles F.H. Diercks, Hendri H. Pas, Richard J. Sinke, Marcel F. Jonkman
    Studysummary This study reports a novel homozygous mutation in the DST gene causing a unique form of epidermolysis bullosa simplex with prurigo papules in a 39-year-old Syrian man.
    Automatically generated from the study's abstract, not written by a person, and not a review of the full paper. Not medical advice or a treatment recommendation. Read the original study, and consult a qualified healthcare professional before changing treatment. Full disclaimer
    Discuss this study in the Community →