Localized variant of junctional epidermolysis bullosa with R795X mutation [PDF]
Dermatology ReportsEpidermolysis 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 +7 more
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Multiple Acantholytic Acanthomas in Junctional Epidermolysis Bullosa [PDF]
Acta Dermato-Venereologicais missing (Research letter)
Sota Itamoto +4 more
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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 +5 more
doaj +2 more sources
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 +2 more
exaly +3 more sources
Junctional Epidermolysis Bullosa Associated Laryngeal Stenosis: A Case Report and Review of Literature [PDF]
Iranian Journal of OtorhinolaryngologyIntroduction: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 +3 more
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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 MedicineJunctional 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 +4 more
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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 +11 more
doaj +2 more sources
Dystonin modifiers of junctional epidermolysis bullosa and models of epidermolysis bullosa simplex without dystonia musculorum [PDF]
PLoS ONE, 2023 The Lamc2jeb junctional epidermolysis bullosa (EB) mouse model has been used to demonstrate that significant genetic modification of EB symptoms is possible, identifying as modifiers Col17a1 and six other quantitative trait loci, several with strong ...
Thomas J. Sproule +9 more
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Totally endoscopic concomitant aortic and mitral valve surgery in junctional epidermolysis bullosa: a case report [PDF]
Journal of Cardiothoracic SurgeryBackground Junctional epidermolysis bullosa is a rare skin and mucosal disorder characterized by blister formation in response to minor trauma and extracutaneous manifestations.
Kazufumi Yoshida +6 more
doaj +2 more sources
Prenatal Identification of a Novel ITGB4 Gene Mutation Associated With Junctional Epidermolysis Bullosa: A Case Report [PDF]
Clinical Case ReportsHomozygous 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 +7 more
doaj +2 more sources