A Blistering Child: Sudden Erythema with Blisters in a Sick Girl

    September 2022 in “ European Journal of Dermatology ”
    Sophia Mohme, Matthias Goebeler, Michael Wohlleben, Henning Hamm
    TLDR Gene sequencing is essential for diagnosing junctional epidermolysis bullosa.
    This study focused on a family affected by junctional epidermolysis bullosa (JEB), a rare genetic disorder. Researchers aimed to confirm the diagnosis and identify the pathogenic variant responsible. Clinical data and DNA from the family were analyzed using whole-exome sequencing and Sanger sequencing. A novel splice-site variant (c.629-12T>G) in the LAMB3 gene was identified in all patients and confirmed as pathogenic through in vitro experiments. The study concluded that diagnosing JEB should rely on gene sequencing, as splice-site variants can also cause the disease.
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