نتایج جستجو برای: dystrophic epidermolysis bullosa

تعداد نتایج: 6516  

2016
Johanna Huguen Sylvie Fraitag Laurent Misery Claire Abasq-Thomas

EB: epidermolysis bullosa HSV: herpes simplex virus INTRODUCTION Inherited epidermolysis bullosa (EB) are genodermatoses characterized by the formation of blisters after minor trauma. There are 4 major types of inherited EB: EB simplex, junctional EB, dystrophic EB, and Kindler syndrome. Classification is performed according to the mode of inheritance, the phenotype, the level of skin cleavage ...

2012
Ying Lin Xue-Jun Chen Wei Liu Bo Gong Jun Xie Jun-Hao Xiong Jing Cheng Xi-Ling Duan Zhao-Chun Lin Lu-Lin Huang Hui-Ying Wan Xiao-Qi Liu Lin-Hong Song Zheng-Lin Yang

Dystrophic epidermolysis bullosa is an inherited bullous dermatosis caused by the COL7A1 gene mutation in autosomal dominant or recessive mode. COL7A1 gene encodes type VII collagen - the main component of the anchoring fibrils at the dermal-epidermal junction. Besides the 730 mutations reported, we identified two novel COL7A1 gene mutations in a Chinese family, which caused recessive dystrophi...

Deepak Sharma Prem Prakash Gupta Sharad Bansal, Shweta Bansal,

Background: Epidermolysis bullosa (EB) comprises a group of genetically determined skin fragility disorders, which are characterized by blistering of the skin and mucosa, in response to little or no apparent trauma. These disorders represent heterogeneous phenotypes and are associated with various complications ranging from localized skin fragility to neonatal death. Nevertheless, the term "Epi...

Journal: :journal of skin and stem cell 0
sona zare skin and stem cell research center, tehran university of medical sciences, tehran, ir iran reza ahmadi department of clinical biochemistry, faculty of medicine, iran university of medical sciences, tehran, ir iran ayoob rostamzadeh department of anatomical sciences, faculty of medicine, shahrekord university of medical sciences, shahrekord, ir iran soleiman kurd school of advanced technologies in medicine, shahid beheshti university of medical sciences, tehran, ir iran somayeh hejazi skin and stem cell research center, tehran university of medical sciences, tehran, ir iran maryam fard department of anatomical science, faculty of medicine, qazvin university of medical sciences, qazvin, ir iran

context connective tissue cells include fibroblasts, chondrocytes, adipocyte, and osteocytes. these cells are specialized for the secretion of collagenous extracellular matrix and are responsible for the architectural framework of the human body. evidence acquisition connective tissue cells play a central role in supporting as well as repairing tissues and organs. fibroblast cell therapy could ...

2015
Cassandra Chaptini Genevieve Casey Adam G. Harris Dedee F. Murrell Lynne Gordon

Fig 1. Squamous cell carcinoma identified after multiple biopsy specimens of poorly healing area over left E pidermolysis bullosa (EB) consists of a heterogeneous group of autosomal dominant or recessive disorders, characterized by epithelial fragility. In dystrophic EB, patients have a genetic defect in the gene encoding collagen VII, COL7A1. Generalized severe recessive dystrophic EB (RDEB) i...

Journal: :Dermatologic clinics 2010
W F Yan Dédée F Murrell

Dystrophic epidermolysis bullosa (DEB) is a severe skin fragility disorder associated with trauma-induced blistering, progressive soft tissue scarring, and increased risk of skin cancer. DEB is caused by mutations in the COL7A1 gene which result in reduced, truncated, or absent type VII collagen, and anchoring fibrils at the dermal-epidermal junction (DEJ). Because no topical wound-healing agen...

Journal: :The Journal of investigative dermatology 2013
Clare P Morgan Danny S I Allen Sophia Millington-Ward Gareth E O'Dwyer Arpad Palfi G Jane Farrar

Julia Spoendlin, Johannes J. Voegel, Susan S. Jick and Christoph R. Meier Basel Pharmacoepidemiology Unit, Division of Clinical Pharmacy and Epidemiology, Department of Pharmaceutical Sciences, University of Basel, Basel, Switzerland; Hospital Pharmacy, University Hospital Basel, Basel, Switzerland; Galderma Research & Development, Sophia Antipolis, France and Boston Collaborative Drug Surveill...

Journal: :Annals of dermatology 2009
Gyo Shin Kang Woo Tae Ko Jae Hong Kim Sung Min Choi Ae Suk Kim Dong Hoon Kim Moo Kyu Suh

Dystrophic epidermolysis bullosa (DEB) is a rare group of heritable mechanobullous disorders that are characterized by blistering and scarring of the skin and mucosae and these lesions are induced by minor trauma, DEB is also associated with nail dystrophy. DEB can be inherited either in an autosomal recessive or dominant fashion. Regardless of the mode of inheritance, DEB is caused by defects ...

2017
Sofia von Bischhoffshausen Dinka Ivulic Paola Alvarez Victor C. Schuffeneger Juan Idiaquez Constanza Fuentes Pilar Morande Ignacia Fuentes Francis Palisson David L. H. Bennett Margarita Calvo

Small fibres in the skin are vulnerable to damage in metabolic or toxic conditions such as diabetes mellitus or chemotherapy resulting in small fibre neuropathy and associated neuropathic pain. Whether injury to the most distal portion of sensory small fibres due to a primary dermatological disorder can cause neuropathic pain is still unclear. Recessive dystrophic epidermolysis bullosa (RDEB) i...

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