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Review

Dystrophic epidermolysis bullosa: a review

Pages 275-284 | Published online: 26 May 2015

Keep up to date with the latest research on this topic with citation updates for this article.

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Mariel Dourado Alcorte, Mari Cleide Sogayar & Marcos Angelo Demasi. (2019) Patent landscape of molecular and cellular targeted therapies for recessive dystrophic epidermolysis bullosa. Expert Opinion on Therapeutic Patents 29:5, pages 327-337.
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Articles from other publishers (48)

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Ahmed Lotfy, Noha M. AboQuella & Hongjun Wang. (2023) Mesenchymal stromal/stem cell (MSC)-derived exosomes in clinical trials. Stem Cell Research & Therapy 14:1.
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Maria Rosaria Marchili, Giulia Spina, Marco Roversi, Cristina Mascolo, Elisabetta Pentimalli, Marialuisa Corbeddu, Andrea Diociaiuti, Maya El Hachem & Alberto Villani. (2022) Epidermolysis Bullosa in children: the central role of the pediatrician. Orphanet Journal of Rare Diseases 17:1.
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E. Tekutskaya, L. Gusaruk & I. Pavlyuchenko. (2022) THE DEGREE OF OXIDATIVE DAMAGE TO DNA AND MMP-12 GENE rs652438 POLYMORPHISM IN MULTIFACTORIAL DISEASES UNDER OXIDATIVE STRESS. Russian Journal of Biological Physics and Chemisrty 7:1, pages 147-151.
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Yu Wang, Zhen Song, Lihua Zhang, Na Li, Jie Zhao, Ruifang Yang, Shuhua Ji & Ping Sun. (2022) Genetic analysis and prenatal diagnosis of recessive dystrophic epidermolysis bullosa caused by compound heterozygous variants of the COL7A1 gene in a Chinese family. Frontiers in Pediatrics 10.
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Hui Yu Juan, Albert E. Zhou, Karl M. Hoegler & Amor Khachemoune. (2022) Overview of familial syndromes with increased skin malignancies. Archives of Dermatological Research 315:4, pages 707-727.
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Yuichi Shiraishi, Ai Okada, Kenichi Chiba, Asuka Kawachi, Ikuko Omori, Raúl Nicolás Mateos, Naoko Iida, Hirofumi Yamauchi, Kenjiro Kosaki & Akihide Yoshimi. (2022) Systematic identification of intron retention associated variants from massive publicly available transcriptome sequencing data. Nature Communications 13:1.
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Julia A. Riedl, Megan Riddle, Lily Xia, Cindy Eide, Christina Boull, Christen L. Ebens & Jakub Tolar. (2022) Interrogation of RDEB Epidermal Allografts after BMT Reveals Coexpression of Collagen VII and Keratin 15 with Proinflammatory Immune Cells and Fibroblasts. Journal of Investigative Dermatology 142:9, pages 2424-2434.
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Eijiro Akasaka, Hajime Nakano & Daisuke Sawamura. (2022) Two cases of the intermediate phenotype of recessive dystrophic epidermolysis bullosa harboring the novel COL7A1 mutation c.3570G>A. Journal of Dermatological Science 106:3, pages 193-195.
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Hong Ha Nguyen, Satoru Shinkuma, Ryota Hayashi, Tatsuya Katsumi, Tomoki Nishiguchi, Ken Natsuga, Yasuyuki Fujita & Riichiro Abe. (2022) New insight of itch mediators and proinflammatory cytokines in epidermolysis bullosa. Journal of Cutaneous Immunology and Allergy 5:3, pages 78-87.
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E. E. Tekutskaya, L. R. Gusaruk & G. P. Ilchenko. (2022) The Effect of an Alternating Magnetic Field on the Chemiluminescence of Human Peripheral Blood Mononuclear Cells and the Production of Pro-Inflammatory Cytokines. Biophysics 67:1, pages 92-99.
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A. BhavanaN. ChakravarthyK. Uday kiran rajaV. SushithaA. Vijaya Mohan Rao. (2022) EPIDERMOLYSIS BULLOSA DYSTROPHICA WITH RENAL FAILURE. PARIPEX INDIAN JOURNAL OF RESEARCH, pages 1-2.
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Mohammed M Tarabishi, Shahd Almonaie, Mohamed Taha A Mohamed & Weam F Mousa. (2022) Management of a Femur Shaft Fracture With Nancy Nail in the Setting of Dystrophic Epidermolysis Bullosa: A Case Report. Cureus.
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Yuko Kuriyama, Akira Shimizu, Keiji Kosaka, Masahito Yasuda, Satoru Shinkuma, Osamu Ishikawa & Sei‐ichiro Motegi. (2021) Novel mutation in COL7A1 in recessive dystrophic epidermolysis bullosa successfully treated with cultured epidermal autograft transplantation . The Journal of Dermatology 48:9.
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I. I. Ryumina, K. V. Goryunov, D. N. Silachev, Yu. A. Shevtsova, V. A. Babenko, N. M. Marycheva, Yu. Yu. Kotalevskaya, V. V. Zubkov & G. T. Zubkov. (2021) Pathogenetic Therapy of Epidermolysis Bullosa: Current State and Prospects. Bulletin of Experimental Biology and Medicine 171:1, pages 109-121.
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Georg A. Busslinger, Bas L.A. Weusten, Auke Bogte, Harry Begthel, Lodewijk A.A. Brosens & Hans Clevers. (2021) Human gastrointestinal epithelia of the esophagus, stomach, and duodenum resolved at single-cell resolution. Cell Reports 34:10, pages 108819.
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Marinna Madrid, Cenk Sumen, Suvi Aivio & Nabiha Saklayen. (2021) Autologous Induced Pluripotent Stem Cell–Based Cell Therapies: Promise, Progress, and Challenges. Current Protocols 1:3.
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M.V. Rubanenko, N.N. Potekaev, N.E. Manturova, A.Yu. Ustiugov, O.V. Porshina, V.V. Petunina, V.L. Zorin & A.I. Zorina. (2021) Application of biotechnology in recessive epidermolysis bullosa. Klinicheskaya dermatologiya i venerologiya 20:5, pages 55.
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M.V. Rubanenko, N.E. Manturova, A.Yu. Ustiugov, O.V. Porshina, V.V. Petunina, V.L. Zorin, A.I. Zorina & A.M. Palinkash. (2021) Epidermolysis bullosa. Possible methods of treatment. Klinicheskaya dermatologiya i venerologiya 20:4, pages 22.
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I. I. Pavlyuchenko, L. R. Gusaruk, E. E. Tekutskaya & I. T. Rubtsova. (2020) Prevalence and molecular genetic features of epidermolysis bullosa in Krasnodar Krai. Kuban Scientific Medical Bulletin 27:5, pages 88-99.
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Igor Maciel Souza Silva, Kasper Bostlund Assersen, Natalie Nanette Willadsen, Julie Jepsen, Metin Artuc & Ulrike Muscha Steckelings. (2020) The role of the renin‐angiotensin system in skin physiology and pathophysiology. Experimental Dermatology 29:9, pages 891-901.
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Yuji Yokouchi, Shinichi Suzuki, Noriko Ohtsuki, Kei Yamamoto, Satomi Noguchi, Yumi Soejima, Mizuki Goto, Ken Ishioka, Izumi Nakamura, Satoru Suzuki, Seiichi Takenoshita & Takumi Era. (2020) Rapid repair of human disease-specific single-nucleotide variants by One-SHOT genome editing. Scientific Reports 10:1.
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Yan-yi Yao, Yong Zhang, Xiao-hui Xie, Lan Chen, Feng Zhu & Min Zhou. (2020) Identification of a Novel COL17A1 Compound Heterozygous Mutation in a Chinese Girl with Non-Herlitz Junctional Epidermolysis Bullosa. Current Medical Science 40:4, pages 795-800.
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Rui Yang, Yuanyuan Duan, Qingtao Kong, Weiwei Li, Jie Xu, Xinyi Xia & Hong Sang. (2020) What do we learn from dystrophic epidermolysis bullosa, nails only? Idiopathic nail dystrophy may harbor a COL7A1 mutation as the underlying cause . The Journal of Dermatology 47:7, pages 782-786.
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Raju Chaudhary, Santoshdev Rathod, Malhar Shah & Dixit Kasundra. (2020) A mother with 3-month amenorrhea and 8-month-old dystrophic epidermolysis bullosa mitis child: Practical difficulties in genetic diagnosis. Journal of the Pediatrics Association of India 9:2, pages 80.
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Nikolay N. Murashkin, Roman A. Ivanov, A. A. Savelova, D. V. Fedorov, L. A. Opryatin & Wasel Ahmad. (2019) Role of the Epidermal Barrier in the Formation of Food Allergies in Children with Genodermatosis. Pediatric pharmacology 16:4, pages 234-240.
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Shaundra Eichstadt, Melissa Barriga, Anusha Ponakala, Claudia Teng, Ngon T. Nguyen, Zurab Siprashvili, Jaron Nazaroff, Emily S. Gorell, Albert S. Chiou, Lisa Taylor, Phuong Khuu, Douglas R. Keene, Kerri Rieger, Rohit K. Khosla, Louise K. Furukawa, H. Peter Lorenz, M. Peter Marinkovich & Jean Y. Tang. (2019) Phase 1/2a clinical trial of gene-corrected autologous cell therapy for recessive dystrophic epidermolysis bullosa. JCI Insight 4:19.
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Luiza M. Mariath, Juliana T. Santin, Jeanine A. Frantz, Maria J.R. Doriqui, Ana E. Kiszewski & Lavínia Schuler‐Faccini. (2019) An overview of the genetic basis of epidermolysis bullosa in Brazil: discovery of novel and recurrent disease‐causing variants. Clinical Genetics 96:3, pages 189-198.
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Oindrila Bhattacharjee, Uttkarsh Ayyangar, Ambika S. Kurbet, Driti Ashok & Srikala Raghavan. (2019) Unraveling the ECM-Immune Cell Crosstalk in Skin Diseases. Frontiers in Cell and Developmental Biology 7.
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Agata Michalak, Halina Cichoż-Lach, Beata Prozorow-Król, Leszek Buk & Monika Dzida. (2018) A rare case of skin blistering and esophageal stenosis in the course of epidermolysis bullosa - case report and literature review. BMC Gastroenterology 18:1.
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Dunhui Li, Frank L. Mastaglia, Sue Fletcher & Steve D. Wilton. (2018) Precision Medicine through Antisense Oligonucleotide-Mediated Exon Skipping. Trends in Pharmacological Sciences 39:11, pages 982-994.
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Chihiro Nakayama, Yasuyuki Fujita, Wakana Matsumura, Inkin Ujiie, Shota Takashima, Satoru Shinkuma, Toshifumi Nomura, Riichiro Abe & Hiroshi Shimizu. (2018) The development of induced pluripotent stem cell-derived mesenchymal stem/stromal cells from normal human and RDEB epidermal keratinocytes. Journal of Dermatological Science 91:3, pages 301-310.
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Mika Watanabe, Ken Natsuga, Satoru Shinkuma & Hiroshi Shimizu. (2018) Epidermal aspects of type VII collagen: Implications for dystrophic epidermolysis bullosa and epidermolysis bullosa acquisita. The Journal of Dermatology 45:5, pages 515-521.
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Aaron L. Fidler, Sergei P. Boudko, Antonis Rokas & Billy G. Hudson. (2018) The triple helix of collagens – an ancient protein structure that enabled animal multicellularity and tissue evolution. Journal of Cell Science 131:7.
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Felipe Mellado, Ignacia Fuentes, Francis Palisson, José I. Vergara & Arturo Kantor. (2018) Ophthalmologic Approach in Epidermolysis Bullosa: A Cross-Sectional Study With Phenotype–Genotype Correlations. Cornea 37:4, pages 442-447.
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Patricia Peking, Ulrich Koller & Eva M. Murauer. (2018) Functional therapies for cutaneous wound repair in epidermolysis bullosa. Advanced Drug Delivery Reviews 129, pages 330-343.
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Stephanie Goletz, Detlef Zillikens & Enno Schmidt. (2017) Structural proteins of the dermal-epidermal junction targeted by autoantibodies in pemphigoid diseases. Experimental Dermatology 26:12, pages 1154-1162.
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R. Enaud & T. Lamireau. (2017) Patologías esofágicas adquiridas en el niño. EMC - Pediatría 52:4, pages 1-11.
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Satoru Shinkuma, Tae Masunaga, Saori Miyawaki, Shota Takashima, Ken Natsuga, Toshifumi Nomura, Yasuyuki Fujita, Hideki Nakamura & Hiroshi Shimizu. (2017) A case of recessive dystrophic epidermolysis bullosa with a novel c.6885_6898del14 mutation in the COL7A1 gene. Journal of Dermatological Science 88:1, pages 139-141.
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Thuy L. Phung, Teresa S. Wright, Crystal Y. Pourciau & Bruce R. SmollerThuy L. Phung, Teresa S. Wright, Crystal Y. Pourciau & Bruce R. Smoller. 2017. Pediatric Dermatopathology. Pediatric Dermatopathology 61 86 .
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C.A. Sarabia Aldana & M.R. Zavala-Solares. (2016) Oropharyngeal dysphagia in a patient with epidermolysis bullosa. Revista de Gastroenterología de México (English Edition) 81:4, pages 227-229.
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C.A. Sarabia Aldana & M.R. Zavala-Solares. (2016) Disfagia orofaríngea en paciente con epidermólisis bullosa. Revista de Gastroenterología de México 81:4, pages 227-229.
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David R Carr & Steven E Bradshaw. (2016) Gene therapies: the challenge of super-high-cost treatments and how to pay for them. Regenerative Medicine 11:4, pages 381-393.
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Satoru ShinkumaZongyou GuoAngela M. Christiano. (2016) Site-specific genome editing for correction of induced pluripotent stem cells derived from dominant dystrophic epidermolysis bullosa. Proceedings of the National Academy of Sciences 113:20, pages 5676-5681.
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