Genotype, Clinical Course, and Therapeutic Decision Making in 76 Infants with Severe Generalized Junctional Epidermolysis Bullosa  Johanna Hammersen, Cristina Has, Nora Naumann-Bartsch, Daniel Stachel, Dimitra Kiritsi, Stephan Söder, Mathilde Tardieu, Markus Metzler, Leena Bruckner-Tuderman, Holm Schneider  Journal of Investigative Dermatology  Volume 136, Issue 11, Pages 2150-2157 (November 2016) DOI: 10.1016/j.jid.2016.06.609 Copyright © 2016 The Authors Terms and Conditions

Figure 1 Weight-per-age charts. Boys (left diagram) and girls (right diagram) with severe generalized JEB weighed considerably less in comparison with healthy infants, for whom the 50th, 25th, 10th, and 3rd percentile are indicated (Neuhauser et al., 2013). In the two affected infants who underwent SCT (filled symbols), initially normal weight gain was observed. JEB, junctional epidermolysis bullosa; SCT, stem cell transplantation. Journal of Investigative Dermatology 2016 136, 2150-2157DOI: (10.1016/j.jid.2016.06.609) Copyright © 2016 The Authors Terms and Conditions

Figure 2 Skin erosions after BMT. Erosions at back and legs of patient 76 deteriorated 1 week after BMT (middle row) compared with the state of the skin before BMT (top row). Healing wounds at the abdomen, foot, and shoulder of this patient were observed 3 weeks after BMT. BMT, bone marrow transplantation. Journal of Investigative Dermatology 2016 136, 2150-2157DOI: (10.1016/j.jid.2016.06.609) Copyright © 2016 The Authors Terms and Conditions

Figure 3 Clinical parameters after BMT. Patient 76 underwent a temporary phase of clinical improvement with weight gain (a) and diminished need for analgesia (b). The need for analgesia and albumin supplementation (c) rose again in parallel to an increasing autologous portion of blood leukocytes indicating graft failure (d). BMT, bone marrow transplantation; PCA, patient-controlled analgesia. Journal of Investigative Dermatology 2016 136, 2150-2157DOI: (10.1016/j.jid.2016.06.609) Copyright © 2016 The Authors Terms and Conditions

Figure 4 Analysis of skin biopsy specimens. Hematoxylin/eosin-stained skin sections from patient 76 on day +50 after BMT (a) showed eroded epidermis and minor lymphocellular infiltrate (bar = 200 μm). A chromosome X-specific fluorescence in situ hybridization (FISH) probe (b) indicated the presence of female graft cells (arrowed) among normal male cells (bar = 5 μm). No laminin-332 components were detected by immunofluorescence analyses of skin samples obtained before and after BMT (c, blisters indicated by stars; bar = 200 μm). BMT, bone marrow transplantation. Journal of Investigative Dermatology 2016 136, 2150-2157DOI: (10.1016/j.jid.2016.06.609) Copyright © 2016 The Authors Terms and Conditions