[et_pb_section fb_built=”1″ _builder_version=”3.22″ custom_margin=”0px|0px|0px|0px” custom_padding=”0px|0px|0px|0px” locked=”off” global_colors_info=”{}”][et_pb_row column_structure=”2_3,1_3″ _builder_version=”3.25″ background_size=”initial” background_position=”top_left” background_repeat=”repeat” custom_margin=”-5px|||” custom_padding=”0||20px||false|false” global_colors_info=”{}”][et_pb_column type=”2_3″ _builder_version=”3.0.47″ custom_padding=”|||” global_colors_info=”{}” custom_padding__hover=”|||”][et_pb_text admin_label=”Authors” _builder_version=”4.0.8″ animation_style=”zoom” animation_direction=”bottom” animation_delay=”100ms” animation_intensity_zoom=”6%” z_index_tablet=”500″ text_text_shadow_horizontal_length_tablet=”0px” text_text_shadow_vertical_length_tablet=”0px” text_text_shadow_blur_strength_tablet=”1px” link_text_shadow_horizontal_length_tablet=”0px” link_text_shadow_vertical_length_tablet=”0px” link_text_shadow_blur_strength_tablet=”1px” ul_text_shadow_horizontal_length_tablet=”0px” ul_text_shadow_vertical_length_tablet=”0px” ul_text_shadow_blur_strength_tablet=”1px” ol_text_shadow_horizontal_length_tablet=”0px” ol_text_shadow_vertical_length_tablet=”0px” ol_text_shadow_blur_strength_tablet=”1px” quote_text_shadow_horizontal_length_tablet=”0px” quote_text_shadow_vertical_length_tablet=”0px” quote_text_shadow_blur_strength_tablet=”1px” header_text_shadow_horizontal_length_tablet=”0px” header_text_shadow_vertical_length_tablet=”0px” header_text_shadow_blur_strength_tablet=”1px” header_2_text_shadow_horizontal_length_tablet=”0px” header_2_text_shadow_vertical_length_tablet=”0px” header_2_text_shadow_blur_strength_tablet=”1px” header_3_text_shadow_horizontal_length_tablet=”0px” header_3_text_shadow_vertical_length_tablet=”0px” header_3_text_shadow_blur_strength_tablet=”1px” header_4_text_shadow_horizontal_length_tablet=”0px” header_4_text_shadow_vertical_length_tablet=”0px” header_4_text_shadow_blur_strength_tablet=”1px” header_5_text_shadow_horizontal_length_tablet=”0px” header_5_text_shadow_vertical_length_tablet=”0px” header_5_text_shadow_blur_strength_tablet=”1px” header_6_text_shadow_horizontal_length_tablet=”0px” header_6_text_shadow_vertical_length_tablet=”0px” header_6_text_shadow_blur_strength_tablet=”1px” box_shadow_horizontal_tablet=”0px” box_shadow_vertical_tablet=”0px” box_shadow_blur_tablet=”40px” box_shadow_spread_tablet=”0px” global_colors_info=”{}”]Authors:Elisabeth Ryan, MD, Roy Lawrence S. Paredes, MD, Clarisse G. Mendoza, MD, FPDS
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Abstract

Introduction: Epidermolysis Bullosa (EB) is a rare genodermatosis characterized by fragility of the skin and mucous membranes, manifested by blistering with little or no trauma. There are three subtypes: EB Simplex, Junctional EB, and Dystrophic EB. Each type of EB has its own specific genetic defect. We report a case of a 13-year-old girl who presented with multiple tense blisters and eroded plaques since birth on the entire body.

Case summary: This is a 13-year-old-girl who presented with solitary tense blister on her right thigh three days after birth, which gradually affected the scalp, trunk, and upper and lower extremities, particularly on the trauma prone areas. There was nail dystrophy and multiple brownish dental pits at three years of age. A 4 mm lesional skin punch biopsy showed subepidermal blisters containing fibrin, lymphocytes and few red blood cells. PAS showed basement membrane zone beneath the blister, compatible with EB. Immunofluorescence mapping showed decreased immunofluorescence (+1) on keratin 5/6, (+2) on keratin 14, and absence of immunofluorescence on alpha 6 / beta 4 integrins. Final diagnosis is EB Simplex.

Conclusion: Early detection is important in managing this case, to detect systemic involvement and provide palliative care. Genetic counseling is recommended for prospective parents who have a family history of any form of epidermolysis bullosa. The prognosis of Inherited EB is very variable and the mortality is usually due to complications of systemic involvement. A multidisciplinary approach in the supportive management of this case is necessary as there is still no cure for this condition. 

Keywords

inherited epidermolysis bullosa, alpha 6 and beta 4 integrin, immunofluorescence mapping

[/et_pb_tab][et_pb_tab title=”References” title_tablet=”References” title_phone=”References” _builder_version=”4.0.8″ custom_padding=”|||” custom_padding_tablet=”|||” custom_padding_phone=”|||” background_color_gradient_direction_tablet=”180deg” background_color_gradient_direction_phone=”180deg” background_color_gradient_start_position_tablet=”0%” background_color_gradient_start_position_phone=”0%” background_color_gradient_end_position_tablet=”100%” background_color_gradient_end_position_phone=”100%” hover_transition_duration_tablet=”300ms” hover_transition_duration_phone=”300ms” hover_transition_delay_tablet=”0ms” hover_transition_delay_phone=”0ms” body_text_shadow_horizontal_length_tablet=”0px” body_text_shadow_horizontal_length_phone=”0px” body_text_shadow_vertical_length_tablet=”0px” body_text_shadow_vertical_length_phone=”0px” body_text_shadow_blur_strength_tablet=”1px” body_text_shadow_blur_strength_phone=”1px” tab_text_shadow_horizontal_length_tablet=”0px” tab_text_shadow_horizontal_length_phone=”0px” tab_text_shadow_vertical_length_tablet=”0px” tab_text_shadow_vertical_length_phone=”0px” tab_text_shadow_blur_strength_tablet=”1px” tab_text_shadow_blur_strength_phone=”1px” body_link_text_shadow_horizontal_length_tablet=”0px” body_link_text_shadow_horizontal_length_phone=”0px” body_link_text_shadow_vertical_length_tablet=”0px” body_link_text_shadow_vertical_length_phone=”0px” body_link_text_shadow_blur_strength_tablet=”1px” body_link_text_shadow_blur_strength_phone=”1px” body_ul_text_shadow_horizontal_length_tablet=”0px” body_ul_text_shadow_horizontal_length_phone=”0px” body_ul_text_shadow_vertical_length_tablet=”0px” body_ul_text_shadow_vertical_length_phone=”0px” body_ul_text_shadow_blur_strength_tablet=”1px” body_ul_text_shadow_blur_strength_phone=”1px” body_ol_text_shadow_horizontal_length_tablet=”0px” body_ol_text_shadow_horizontal_length_phone=”0px” body_ol_text_shadow_vertical_length_tablet=”0px” body_ol_text_shadow_vertical_length_phone=”0px” body_ol_text_shadow_blur_strength_tablet=”1px” body_ol_text_shadow_blur_strength_phone=”1px” body_quote_text_shadow_horizontal_length_tablet=”0px” body_quote_text_shadow_horizontal_length_phone=”0px” body_quote_text_shadow_vertical_length_tablet=”0px” body_quote_text_shadow_vertical_length_phone=”0px” body_quote_text_shadow_blur_strength_tablet=”1px” body_quote_text_shadow_blur_strength_phone=”1px” global_colors_info=”{}”]1. Chan, Lawrence. Blistering Skin Diseases. 1st ed. London: Manson Pub., 2009.

2. Fine, Jo David, et al. “The Classification ofInherited Epidermolysis Bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis andClassification of EB.” The Classification of Inherited Epidermolysis Bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB. Jaad, June 2008.

3. Fine, Jo-David. “Inherited epidermolysis bullosa.” Orphanet journal of rare diseases 5.1 (2010): 12.

4. Gilliam, Anita C and Neil J. Korman Subepidermal Vesiculobullous Dermatitis. 1st ed. Cleveland,Ohio,USA: Department of Dermatology, Case Western ReserveUniversity/University Hospitals of Cleveland, 2015.

5. Haber, Richard M,et al. Hereditary Epidermolysis Bullosa. 1st ed. Toronto, Ontario, Canada: Journal of the American Academy of Dermatology, 1985.

6. Intong, Lizbeth RA, and Dédée F. Murrell. “Inherited epidermolysis bullosa: new diagnostic criteria and classification.” Clinics in dermatology 30.1 (2012): 70-77.

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9. Siañez-González, C. Congenital Epidermolysis Bullosa: A Review. 1st ed. Mexico: Escuela de Medicina del Instituto Tecnológico y de Estudios Superiores de Monterrey, 2009.
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