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epidermolysis bullosa, junctional epidermolysis bullosa
Junctional Epidermolysis Bullosa of late onset (JEB-lo) is caused by mutations in collagen type XVII gene (COL17A1). Family and personal history, clinical presentation, exam findings, biopsy, and immunofluorescence testing were recorded and analyzed for the patient in our study. Based on the patient’s history of recurrent tense blisters on his lower extremities, recent skin exams, histologic findings on his biopsy and negative DIF studies as well as immunomapping, the clinical manifestations of the patient are most likely attributed to a late-onset variant of JEB due to a mutation in COL17A1. We conclude that recurrent tense blisters on the lower extremities, hyperhidrosis, nail dystrophy, and tooth enamel abnormalities can all result from JEB-lo. This study is important for adding to the range of clinical presentations of JEB-lo and raising clinician awareness.
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