Volume 5, Issue 7, Pages (July 2019)

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Volume 5, Issue 7, Pages 576-579 (July 2019) A homozygous frameshift variant in the KRT5 gene is compatible with life and results in severe recessive epidermolysis bullosa simplex Rebecca K. Tryon, MS, MA, Jakub Tolar, MD, PhD, Sarah M. Preusser, MS, Megan J. Riddle, BA, Douglas R. Keene, PhD, Matthew Bower, MS, Bharat Thyagarajan, MD, PhD, MPH, Christen L. Ebens, MD, MPH JAAD Case Reports Volume 5, Issue 7, Pages 576-579 (July 2019) DOI: 10.1016/j.jdcr.2019.03.025 Copyright © 2019 American Academy of Dermatology, Inc. Terms and Conditions

Fig 1 Immunofluorescence reveals thin epidermis with abnormal keratin 5 and 14 staining comparing the proband with normal control skin. JAAD Case Reports 2019 5, 576-579DOI: (10.1016/j.jdcr.2019.03.025) Copyright © 2019 American Academy of Dermatology, Inc. Terms and Conditions

Fig 2 Immunoelectron microscopy of full-thickness proband skin biopsy sample reveals (A) disorganized cytoplasmic contents of basal keratinocytes, (B) free-floating anchoring fibrils, (C, D) abnormal tonofilaments, and (E, F) undulating lamina densa. Black bar = 2 μm. JAAD Case Reports 2019 5, 576-579DOI: (10.1016/j.jdcr.2019.03.025) Copyright © 2019 American Academy of Dermatology, Inc. Terms and Conditions