Epidermolysis Bullosa Simplex Ogna Revisited

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Epidermolysis Bullosa Simplex Ogna Revisited Dimitra Kiritsi, Manuela Pigors, Iliana Tantcheva-Poor, Cordula Wessel, Meral Julia Arin, Jürgen Kohlhase, Leena Bruckner-Tuderman, Cristina Has Journal of Investigative Dermatology Volume 133, Issue 1, Pages 270-273 (January 2013) DOI: 10.1038/jid.2012.248 Copyright © 2013 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 1 Pedigrees and clinical presentation of the patients with epidermolysis bullosa simplex (EBS)-Ogna. (a) Pedigree of family A. (b) The 11-year-old index patient A.III.6 presented with serous (open arrow) and hemorrhagic blisters (white arrow) on the foot, violaceous macules on the lower legs after healing of erosions and linear, as well as spotty hypopigmented macules on the back. (c) The lower legs from patient A.III.6, 45-year-old patient A.II.4, 21-year-old patient A.III.4, and 27-year-old patient A.III.1 show erosions. In a detailed representation of A.III.1 patient's lower leg, the violaceous macules, which occur after healing of blisters and erosions, are pointed out by black arrows. (d) Pedigree of family B. (e) The 34-year-old index patient B.III.1 has serous (open arrow) and hemorrhagic blisters (white arrow) on the sole. (f) The 14-year-old index patient of family C, C.II.2, presented with erosions on lower legs. Journal of Investigative Dermatology 2013 133, 270-273DOI: (10.1038/jid.2012.248) Copyright © 2013 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 2 Morphological analysis of epidermolysis bullosa simplex (EBS)-Ogna skin. (a) Schematic representation of plectin and hemidesmosomes in the skin. The N-terminus of plectin contains an actin-binding domain and a plakin domain, which harbors binding sites for the β4 integrin subunit and collagen XVII. The C-terminus consists of 6 plakin repeat domains and acts as a linking side for keratin 5 and 14. The central rod domain has the role of a structural spacer between the N- and C-termini. The mutation p.Arg2000Trp is depicted with a red arrow. (b) In hematoxylin and eosin staining of the skin of patient A.III.6 (micro) blisters are indicated by black stars. (c–h) Indirect immunofluorescence staining of plectin and other components of the dermal–epidermal junction. In the skin of the patient, (c) the signal for the rod domain–specific plectin antibody 5B3 is reduced, whereas (d) the signal is positive and comparable to the control with the C-terminus-specific plectin antibody 31/Plectin. (c, d) The signal for the integrin α6 subunit remained unchanged. (e, f) BPAG1e, collagen XVII, and the β4 integrin subunit show an interrupted staining with small, “cell-sized” gaps (white arrows) in the patient's skin. Keratin 5/6 and laminin 332 stain similar to control skin. Bar=20μm. Journal of Investigative Dermatology 2013 133, 270-273DOI: (10.1038/jid.2012.248) Copyright © 2013 The Society for Investigative Dermatology, Inc Terms and Conditions