Results 11 to 20 of about 24,173 (249)

Arrhythmogenic right ventricular cardiomyopathy in patients with biallelic JUP-associated skin fragility. [PDF]

Sci Rep, 2020
Arrhythmogenic right ventricular cardiomyopathy (ARVC), with skin manifestations, has been associated with mutations in JUP encoding plakoglobin. Genotype–phenotype correlations regarding the penetrance of cardiac involvement, and age of onset have not ...
Vahidnezhad H, Youssefian L, Faghankhani M, Mozafari N, Saeidian AH, Niaziorimi F, Abdollahimajd F, Sotoudeh S, Rajabi F, Mirsafaei L, Sani ZA, Liu L, Guy A, Zeinali S, Kariminejad A, Ho RT, McGrath JA, Uitto J.   +17 more
europepmc   +2 more sources

Juvenile-onset Skin Fragility with Acral Blistering: A Quiz. [PDF]

Acta Derm Venereol
is missing (Quiz)
Yilmaz K, Linke M, Schaarschmidt ML.
europepmc   +2 more sources

Case report: Minimal manifestations of mucous membrane pemphigoid in a young adult

Frontiers in Medicine, 2022
A male patient presented to our department at the age of 23 suffering from recurrent painful erosions in the urethral outlet area. In closer clinical examination gingival erosions, primarily around the teeth were identified as well.
Franziska Schauer, Federica Casetti, Dimitra Kiritsi   +2 more
doaj   +1 more source

Severe generalized junctional epidermolysis bullosa in a newborn

GAIMS Journal of Medical Sciences, 2021
Epidermolysis Bullosa (EB) is a group of inherited skin fragility disorders. It characteristically presents as blisters formation over skin and mucosa. Epidermolysis bullosa simplex, junctional epidermolysis bullosa and dystrophic epidermolysis bullosa ...
Rekha Thaddanee, Kinjal Patel, Aishwarya Ramani   +2 more
doaj   +1 more source

Hemidesmosomal Reactivity and Treatment Recommendations in Immune Checkpoint Inhibitor-Induced Bullous Pemphigoid—A Retrospective, Monocentric Study

Frontiers in Immunology, 2022
Immune checkpoint inhibitors (ICI) induce T-cell-mediated antitumour responses. While ICI were initially successfully applied in metastasized melanoma, they are now approved for several tumour entities. Numerous autoimmune disorders have been reported to
Franziska Schauer, David Rafei-Shamsabadi, Shoko Mai, Yosuke Mai, Kentaro Izumi, Frank Meiss, Dimitra Kiritsi   +6 more
doaj   +1 more source

Epidermolysis Bullosa—A Kindler Syndrome Case Report and Short Literature Review

Clinics and Practice, 2023
Introduction: Epidermolysis bullosa (EB) represents a group of rare disorders, genetically determined, characterized by skin fragility, blister formation and erosions due to minimal trauma.
Bogdan Ioan Stefanescu, Diana Sabina Radaschin, Geta Mitrea, Lucretia Anghel, Adrian Beznea, Georgiana Bianca Constantin, Alin Laurentiu Tatu   +6 more
doaj   +1 more source

Ectodermal Dysplasia-Skin Fragility Syndrome: A Rare Case Report.

Indian J Dermatol, 2015
Ectodermal dysplasia/skin fragility syndrome (ED-SFS) is a newly described autosomal recessive disorder characterized by skin fragility and blistering, palmoplantar keratoderma, abnormal hair growth, nail dystrophy, and occasionally defective sweating ...
Kashyap S, Shanker V, Sharma N.
europepmc   +2 more sources

Skin fragility, hair abnormality and pachyonychia caused by DSP mutations:a case report and literature review

Pifu-xingbing zhenliaoxue zazhi, 2022
Objective To report a case of genodermatosis featured by skin fragility, alopecia and pachyonychia, and to identify the underlying genetic basis. Methods Clinical information was collected, and peripheral blood was obtained from the patient and his ...
Huijun WANG, Zhimiao LIN
doaj   +1 more source

Case report: Atlantoaxial instability and subluxation in a dog with Ehlers–Danlos syndrome

Frontiers in Veterinary Science, 2023
Ehlers–Danlos syndrome is a rare, heritable connective tissue disorder characterized by soft, hyperextensible skin, joint hypermobility, and tissue fragility, the severity of which can range from mild to severe.
Simon Choi, Louise Sullivan, Sam Long
doaj   +1 more source

Epidermolysis Bullosa in Newborn: A Rare Case with Management Dilemmas [PDF]

Journal of Clinical and Diagnostic Research, 2020
Epidermolysis Bullosa (EB) is a rare genetic and connective tissue disorder affecting 1 in every 50000 live birth that causes skin to be very fragile and blister easily.
Ekta Kale, Sumita Mehta, Tarun Kumar
doaj   +1 more source