Epidermolysis Bullosa Acquisita Develops in Dominant Dystrophic Epidermolysis Bullosa Ryota Hayashi, Ken Natsuga, Mika Watanabe, Hiroaki Iwata, Satoru.

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Date of download: 7/8/2016 Copyright © 2016 American Medical Association. All rights reserved. From: Congenital Epidermolysis Bullosa Acquisita: Vertical.

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Epidermolysis Bullosa Acquisita Develops in Dominant Dystrophic Epidermolysis Bullosa Ryota Hayashi, Ken Natsuga, Mika Watanabe, Hiroaki Iwata, Satoru Shinkuma, Akiko Ito, Yukiko Masui, Masaaki Ito, Yutaka Shimomura Journal of Investigative Dermatology Volume 136, Issue 1, Pages 320-323 (January 2016) DOI: 10.1038/JID.2015.370 Copyright © 2015 The Authors Terms and Conditions

Figure 1 Clinical features of a Japanese family with dominant dystrophic epidermolysis bullosa (DDEB), in which one patient developed an autoimmune blistering disease. (a) Pedigree of the family. The affected individuals are colored in black. (b–d) Clinical features of the family members with DDEB. (e) Identification of a heterozygous missense mutation c.7868G>A (p.Gly2623Asp) in the COL7A1 gene of the affected family members. (f–h) Clinical features of patient I-1 at age 63. She exhibited blistering formations on the oral mucosa (f) and all over her body (g, h) with scars and erosions. (i) Hematoxylin and eosin staining of a skin biopsy from patient I-1. Magnification: ×200. (j) Direct immunofluorescence with skin sections from patient I-1. (k) Indirect immunofluorescence using 1 M NaCl split normal human skin sections and serum from patient I-1. Scale bars = 100 μm (j), 50 μm (k). Journal of Investigative Dermatology 2016 136, 320-323DOI: (10.1038/JID.2015.370) Copyright © 2015 The Authors Terms and Conditions

Figure 2 Detection of auto-antibodies against the NC1 domain of collagen VII (COL7). (a) Western blots (WB) using dermal extracts. Serum from patient I-1 recognized a 290 kDa fragment (lane 1; arrow), as did serum from a different patient with epidermolysis bullosa aquisita (EBA) (lane 2; arrowhead). Serum of a patient with anti-p200 pemphigoid showed a 200 kDa fragment (lane 3; arrowhead). (b) WB using purified laminin 332. Positive fragments are indicated by arrowheads. MMP, mucous membrane pemphigoid. (c) Flag-tagged COL7 proteins (Flag-COL7-NC1 and Flag-COL7-NC1 (–)) were purified by immunoprecipitation (IP), and were verified by WB. (d) WB with sera from patient I-1 (Pt) or a healthy control individual (C). (e) Reactive oxygen species (ROS) production by neutrophils was stimulated by incubation of the patient’s serum with human COL7; phorbor myristate acetate (PMA) was used as positive control. Journal of Investigative Dermatology 2016 136, 320-323DOI: (10.1038/JID.2015.370) Copyright © 2015 The Authors Terms and Conditions