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Inflammatory Linear Verrucous Epidermal Nevus with a Postzygotic GJA1 Mutation Is a Mosaic Erythrokeratodermia Variabilis et Progressiva  Noriko Umegaki-Arao,

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Presentation on theme: "Inflammatory Linear Verrucous Epidermal Nevus with a Postzygotic GJA1 Mutation Is a Mosaic Erythrokeratodermia Variabilis et Progressiva  Noriko Umegaki-Arao,"— Presentation transcript:

1 Inflammatory Linear Verrucous Epidermal Nevus with a Postzygotic GJA1 Mutation Is a Mosaic Erythrokeratodermia Variabilis et Progressiva  Noriko Umegaki-Arao, Takashi Sasaki, Harumi Fujita, Satomi Aoki, Kaori Kameyama, Masayuki Amagai, Mariko Seishima, Akiharu Kubo  Journal of Investigative Dermatology  Volume 137, Issue 4, Pages (April 2017) DOI: /j.jid Copyright © 2016 The Authors Terms and Conditions

2 Figure 1 Clinical and histological appearance of the case, showing the characteristic features of ILVEN. (a) Erythematous or brownish verrucous plaques distributed along Blaschko’s lines. The scars observed on the leg lesions were a result of attempted laser ablation therapy. (b) Erythematous hyperkeratotic papules/plaques along Blaschko’s lines on the left arm. (c) Erythematous hyperkeratotic papules/plaques and plantar hyperkeratosis along Blaschko’s lines on both legs. (d) The verrucous papules on the right leg that were biopsied. (e, f) Hematoxylin and eosin stain of the verrucous skin lesion showing psoriasiform hyperplasia with varying thickness of the granular layer and absence of epidermolytic granular degeneration (e), and liquefaction degeneration with lymphocyte infiltration in the superficial dermis (f). Scale bars = 200 μm. ILVEN, inflammatory linear verrucous epidermal nevus. Journal of Investigative Dermatology  , DOI: ( /j.jid ) Copyright © 2016 The Authors Terms and Conditions

3 Figure 2 Genetic and immunohistological examinations of the skin lesions of ILVEN. (a) A list of candidate genetic variations identified in the affected epidermis (Ep). Detection and nondetection of the variants from Ep and white blood cells (WBCs) were shown in + and −, respectively. (b) Detection of the c.131C>T (p.A44V) mutation of GJA1 by Sanger sequencing in the affected verrucous epidermis, peripheral white blood cells, affected erythematous epidermis and its adjacent normal-appearing epidermis. (c) Targeted exome sequencing analysis with next-generation sequencing showing c.131C>T (p.A44V) mutation of GJA1 in the affected epidermis. The mutated T allele of GJA1 was detected in 22 of 72 reads. (d) Immunohistochemical staining of GJA1 in the affected verrucous skin lesion and the adjacent normal-appearing skin. The yellow dotted area is enlarged in the inlet in each panel. Scale bars = 200 μm and 50 μm (inlet). ILVEN, inflammatory linear verrucous epidermal nevus. Journal of Investigative Dermatology  , DOI: ( /j.jid ) Copyright © 2016 The Authors Terms and Conditions


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