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
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
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
Response to Oral Dapsone in a Patient With Generalised Junctional Epidermolysis Bullosa
JEADV Clinical PracticeDapsone is a potent antibacterial agent used as a first‐line treatment for leprosy and employed also as an anti‐inflammatory agent. Additionally, dapsone is used for a variety of other cutaneous conditions.
Shiho Mori +2 more
doaj +2 more sources
Aplasia Cutis Congenita in Bart's Syndrome: A Case Report and Literature Review. [PDF]
Clin Case RepABSTRACT Aplasia cutis congenita (ACC) is a partial or complete absence of skin layers which can be a part of a syndromic disease. Bart's syndrome is a combination of clinical manifestations including ACC, epidermolysis bullosa, blistering in the oral mucosa, nail dystrophy, or congenital absence of nails. Additional anomalies, such as pyloric atresia,
Sadeghimoghadam P +4 more
europepmc +2 more sources
Junctional epidermolysis bullosa: genotype-phenotype correlations [PDF]
Vestnik Dermatologii i Venerologii, 2023 Junctional epidermolysis bullosa most commonly results from mutations in the LAMA3, LAMB3, LAMC2, COL17A1, ITGA6 and ITGB4 genes. Junctional epidermolysis bullosa is characterized by clinical heterogeneity.
Alexey A. Kubanov +3 more
doaj +1 more source
Multiple Acantholytic Acanthomas in Junctional Epidermolysis Bullosa
Acta Dermato-Venereologicais missing (Research letter)
Sota Itamoto +4 more
doaj +3 more sources
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 +2 more
doaj +1 more source
Inherited epidermolysis bullosa: update on the clinical and genetic aspects, [PDF]
Anais Brasileiros de Dermatologia, 2020 Inherited epidermolysis bullosa is a group of genetic diseases characterized by skin fragility and blistering on the skin and mucous membranes in response to minimal trauma.
Luiza Monteavaro Mariath +3 more
doaj +1 more source
Junctional Epidermolysis Bullosa in a 30-day-old Infant: A Case Report [PDF]
Journal of Clinical and Diagnostic Research, 2023 Epidermolysis bullosa is a group of hereditary mechanobullous disorders which are associated with appearance of bullae secondary to physical stress like heat or mechanical trauma or sometimes without any trigger.
Pratima Bisen +4 more
doaj +1 more source