Results 61 to 70 of about 13,589 (213)

Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1) in a patient with concomitant simplex and junctional epidermolysis bullosa

Human Mutation, 2018
Epidermolysis bullosa (EB) is a heterogeneous group of heritable blistering diseases. We developed a next generation sequencing (NGS) panel covering 21 genes associated with skin fragility disorders, and it was applied to DNA from 91 probands with the ...
H. Vahidnezhad, L. Youssefian, A. Saeidian, A. Touati, S. Sotoudeh, A. Jazayeri, A. Guy, P. Lovell, Lu Liu, A. Kariminejad, John A. McGrath, S. Zeinali, J. Uitto   +12 more
semanticscholar   +1 more source

Real‐World Experience With Oleogel‐S10 for Wounds in Epidermolysis Bullosa

JEADV Clinical Practice
Background Oleogel‐S10 is the first approved drug for the treatment of wounds in patients with junctional and dystrophic epidermolysis bullosa. Results from the clinical trials, early access programme and open‐label study are available, showing good ...
Miodrag Davidovic, Stella Gewert, Cristina Has   +2 more
doaj   +1 more source

Molecular genetic basis of epidermolysis bullosa

Vavilovskii zhurnal genetiki i selektsii, 2023
Epidermolysis bullosa (EB) is an inherited disorder of skin fragility, caused by mutations in a large number of genes associated with skin integrity and dermal-epidermal adhesion.
Y. Kotalevskaya, V. Stepanov
semanticscholar   +1 more source

Genetic risk variants implicate impaired maintenance and repair of periodontal tissues as causal for periodontitis—A synthesis of recent findings

Periodontology 2000, EarlyView.
AbstractPeriodontitis is a complex inflammatory disease in which the host genome, in conjunction with extrinsic factors, determines susceptibility and progression. Genetic predisposition is the strongest risk factor in the first decades of life. As people age, chronic exposure to the periodontal microbiome puts a strain on the proper maintenance of ...
Arne S. Schaefer, Luigi Nibali, Noha Zoheir, Niki M. Moutsopoulos, Bruno G. Loos   +4 more
wiley   +1 more source

Periodontitis and Periodontal Conditions in Systemically Healthy Children and Adolescents

Journal of Clinical Periodontology, Volume 53, Issue 7, Page 1100-1198, July 2026.
ABSTRACT Objective To answer the PICoS question ‘in systemically healthy children and adolescents (Population), what are the main features of periodontitis, necrotising periodontal diseases (NPD) and other periodontal conditions (periodontal abscesses, endo‐periodontal lesions, traumatic occlusal forces, prosthesis‐ and tooth‐related factors ...
Inbar Eshkol‐Yogev, Nagore Ambrosio, Cheryl Somani, Elena Figuero, Lior Shapira, Janet Davies   +5 more
wiley   +1 more source

The use of immunofluorescence antigen mapping in the diagnosis of junctional epidermolysis bullosa in a 15-year-old female

Indian Journal of Paediatric Dermatology, 2020
Epidermolysis bullosa (EB) comprises a group of genetically determined skin fragility disorders, characterized by blistering of the skin and mucosae following mechanical trauma, which includes four major forms (EB simplex, junctional EB [JEB], dystrophic
Ankita Choudhary, Deval Mistry, Rima Joshi, Bela Shah   +3 more
doaj   +1 more source

Case report: A case of epidermolysis bullosa complicated with pyloric atresia and a literature review

Frontiers in Pediatrics, 2023
ObjectiveThis article aims to explore the diagnosis, molecular characteristics, treatment, and prognosis of epidermolysis bullosa with pyloric atresia (EB-PA).MethodsThe clinical manifestations, diagnosis and treatment, and genetic characteristics of a ...
Caiyun Luo, Liucheng Yang, Zhaorong Huang, Yuqian Su, Yi Lu, Daiyue Yu, Mengzhen Zhang, Kai Wu   +7 more
doaj   +1 more source

Gingival and Periodontal Diseases and Conditions in Children and Adolescents: Consensus Report

Journal of Clinical Periodontology, Volume 53, Issue 7, Page 1068-1099, July 2026.
ABSTRACT Background The objectives of this Focused Workshop were to update the epidemiology, aetiology, risk factors, diagnosis and management of gingival and periodontal diseases and conditions in children and adolescents, and to explore the applicability of the 2018 Classification in children and adolescents.
Iain Chapple, Sotiria Gizani, Mariano Sanz, Dominique Declerck, Phoebus Madianos, Valerie Clerehugh, Monique Danser, Esti Davidovich, Janet Davies, Nikos Donos, Elisabeth Dursun, Elena Figuero, Filippo Graziani, Mervi Gursoy, Soren Jepsen, Clara Joseph, Moritz Kebschull, Norbert Kraemer, Tina Lambrinaki, Rodrigo López, David J. Manton, Joerg Meyle, Ana Molina, Lior Shapira, Cheryl Somani, Georgios Tsilingaridis, Svante Twetman, Nicola West, Biniyam Wondimu, Ferranti Wong, David Herrera   +30 more
wiley   +1 more source

European S2k guidelines on management of autoimmune blistering diseases in children and adolescents

Journal of the European Academy of Dermatology and Venereology, Volume 40, Issue 7, Page 1137-1161, July 2026.
Autoimmune blistering disorders (AIBDs) in children are rare, challenging to diagnose and treat and often require immunosuppressants. Until now, no paediatric care guidelines existed. The EADV Task Force for AIBDs has developed the consensus‐based recommendations, enabling physicians to adopt a uniform, tailored treatment strategy to improve outcomes ...
A. Nanda, B. Tedbirt, C. Bodemer, M. C. Bolling, M. El Hachem, M. Nikolić, E. Benton, M. Caproni, D. De, D. Didona, K. Drenovska, M. Goebeler, M. Hertl, B. Horváth, M. Kasperkiewicz, D. Kiritsi, M. Larralde, A. V. Marzano, J. Meijer, D. F. Murrell, J. Powell, E. Sprecher, N. S. Chandran, M. M. Tomayko, S. Uzun, N. van Beek, H. Ott, A. Patsatsi, A. Torrelo, A. Welfringer‐Morin, E. Schmidt, P. Joly   +31 more
wiley   +1 more source

Metaplastic Conditions in The Bladder in Patient With Epidermolysis Bullosa

International Brazilian Journal of Urology
Epidermolysis bullosa is a rare inherited muco-cutaneous disorder that sometimes presents with genitourinary involvement. Herein we report the case of an 11-year-old girl with a history of junctional epidermolysis bullosa who was admitted with urological
Kenan Yilmaz, Deniz Demirci, Numan Baydilli, Sinan Nazlim   +3 more
doaj   +1 more source