Results 1 to 10 of about 2,102 (122)

A case of junctional epidermolysis bullosa intermediate with collagen XVII deficiency treated with dupilumab

Journal of Dermatological Treatment, 2023
Inherited epidermolysis bullosa is a heterogeneous group of hereditary skin diseases characterized by skin (mucosa) fragility, which leads to blistering.
Leihong Xiang, Qinyi Chen
exaly   +3 more sources

SINE Insertion in LAMA3 in Dogs With Junctional Epidermolysis Bullosa. [PDF]

Anim Genet
ABSTRACT Junctional epidermolysis bullosa (JEB) is a hereditary skin disorder caused by defects in proteins responsible for dermal‐epidermal adhesion. We investigated the genetic cause of JEB in three related mixed‐breed puppies presenting with congenital skin blistering and ulceration. Whole‐genome sequencing of one affected dog followed by comparison
Kiener S, Kaufmann R, Brenner O, Jagannathan V, Leeb T.   +4 more
europepmc   +2 more sources

Full-thickness Skin Grafts for Hand Contractures in an Adult Patient with Junctional Epidermolysis Bullosa: A Case Report [PDF]

Journal of Plastic and Reconstructive Surgery, 2023
Epidermolysis bullosa is a group of inherited skin fragility disorders with blister formation in the basement membrane zone. Chronic scarring after repeated blistering of the hands causes narrowing of the first web, flexion contractures of the digits ...
Sayaka Nakamura, Susumu Saito, Yoshihiro Ishida, Yo Kaku, Ken Natsuga, Naoki Morimoto   +5 more
doaj   +2 more sources

Junctional Epidermolysis Bullosa Associated Laryngeal Stenosis: A Case Report and Review of Literature [PDF]

Iranian Journal of Otorhinolaryngology
Introduction:Introduction: Junctional Epidermolysis Bullosa (JEB) is a rare subtype of the Epidermolysis Bullosa which itself is a rare genetic disorder. While mucosal involvement of pharynx and oesophagus has been reported, laryngeal involvement is rare.
Firyal Balushi, Ziyad Al Harrasi, Maathir Al Farsi, Marwa Al Qurani   +3 more
doaj   +2 more sources

Urothelial Carcinoma of the Penile Urethra as a Potential Secondary Complication of Junctional Epidermolysis Bullosa: A Case Report and Review of the Literature [PDF]

Case Reports in Dermatological Medicine
Junctional epidermolysis bullosa is a rare autosomal recessive genetic dermatosis which is characterised by cutaneous and mucosal blistering. Cutaneous squamous cell carcinomas arising in areas of chronic wounds and scarring are a well-recognised ...
Jessica McClatchy, Ingrid Winship, Laura Scardamaglia, Vanessa Morgan, Gayle Ross   +4 more
doaj   +2 more sources

First case report of complete paternal isodisomy of chromosome 10 harbouring a novel variant in COL17A1 that causes junctional epidermolysis bullosa intermediate [PDF]

BMC Medical Genomics, 2022
Background Uniparental disomy (UPD) is a condition in which both chromosomes are inherited from the same parent, except for imprinting disorders. Uniparental isodisomy (UPiD) may result in a homozygous variant contributing to an autosomal recessive ...
Yao Wang, Dong Yu, Wei Wei, Hao Zheng, Ming-Hua Liu, Long Ma, Li-Na Qin, Neng-Zhuang Wang, Jia-Xi Li, Jin-Jiang Wang, Xin-Ling Bi, Hong-Li Yan   +11 more
doaj   +2 more sources

Localized variant of junctional epidermolysis bullosa with R795X mutation [PDF]

Dermatology Reports
Epidermolysis bullosa (EB) refers to a group of inherited disorders characterized by skin and mucous membrane fragility. This report presents the case of a 61-year-old Italian male with a localized variant of junctional epidermolysis bullosa (JEB) linked
Stefano Bighetti, Luca Bettolini, Sara Rovaris, Antonio Novelli, Paolo Incardona, Piergiacomo Calzavara-Pinton, Simone Caravello, Vincenzo Maione   +7 more
doaj   +2 more sources

Totally endoscopic concomitant aortic and mitral valve surgery in junctional epidermolysis bullosa: a case report [PDF]

Journal of Cardiothoracic Surgery
Background Junctional epidermolysis bullosa is a rare skin and mucosal disorder characterized by blister formation in response to minor trauma and extracutaneous manifestations.
Kazufumi Yoshida, Soshi Yoshida, Yoshimasa Hori, Hideki Tsubota, Ryosuke Mochizuki, Tohru Nagano, Tadaaki Koyama   +6 more
doaj   +2 more sources

Weekly Intraperitoneal Injection of Tamoxifen in an Inducible In Vivo Model of Junctional Epidermolysis Bullosa Generates Early and Advanced Disease Phenotypes [PDF]

JID Innovations
Junctional epidermolysis bullosa caused by loss-of-function variants in genes encoding the skin basement membrane proteins laminin 332, type XVII collagen, or integrin α6β4 affects patients from birth with severe blistering, eventually leading to ...
Eleri Mai Jones, Priya Garcha, Monique Aumailley, Edel Anne O’Toole, Emanuel Rognoni, Matthew Caley   +5 more
doaj   +2 more sources

Prenatal Identification of a Novel ITGB4 Gene Mutation Associated With Junctional Epidermolysis Bullosa: A Case Report [PDF]

Clinical Case Reports
Homozygous or compound heterozygous mutations in the ITGB4 gene are associated with the pathogenesis of junctional epidermolysis bullosa, characterized by increased fragility of the skin and mucous membranes.
Qi Xu, Xiaofang Peng, Wenwen Ma, Xiaoqin Xiao, Liqiong Zhu, Na Di, Xiaojuan Li, Yinglin Liu   +7 more
doaj   +2 more sources