Results 1 to 10 of about 21,713 (189)

Case Report: Effective treatment of dystrophic epidermolysis bullosa pruriginosa with tofacitinib [PDF]

Frontiers in Medicine
Epidermolysis bullosa (EB) is a heterogeneous group of hereditary skin diseases caused by mutations in structural proteins at the dermal-epidermal junction.
Fang Sun, Zhenzhen Wu, Zhenze Yu
doaj   +2 more sources

Dystrophic Epidermolysis Bullosa

Journal of Nepal Medical Association, 2018
Epidermolysis bullosa is a rare inherited blistering disease with an incidence of 8-10 per million live births. Dystrophic epidermolysis bullosa is a type of epidermolysis bullosa caused by mutation in type VII collagen, COL7A1.
Randhir Sagar Yadav, Amar Jayswal, Shumneva Shrestha, Sanjay Kumar Gupta, Upama Paudel   +4 more
doaj   +4 more sources

Epidermolysis bullosa acquisita [PDF]

Vestnik Dermatologii i Venerologii, 2017
The article describes present-day information on the pathogenesis, clinical picture, treatment and differential diagnostics of epidermolysis bullosa acquisita, an autoimmune skin disease caused by the production of anti-Type VII collagen autoantibodies ...
V. V. Chikin, L. F. Znamenskaya, M. A. Nefedova, V. A. Charikov   +3 more
doaj   +5 more sources

Infant Spinal Anesthesia for Urologic Surgery in a Patient With Epidermolysis Bullosa [PDF]

Case Reports in Anesthesiology
Infant spinal anesthesia presents a viable alternative to general anesthesia for short procedures below the umbilicus. This technique eliminates the need for airway instrumentation while preserving hemodynamic and respiratory parameters.
Alexander B. Froyshteter, Jillian A. Dibiase, Catherine M. Seager, Alina Lazar   +3 more
doaj   +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, Vadim V. Chikin, Arfenya E. Karamova, Ekaterina S. Monchakovskaya   +3 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, Juliana Tosetto Santin, Lavínia Schuler-Faccini, Ana Elisa Kiszewski   +3 more
doaj   +1 more source

Clinical and epidemiological features of congenital epidermolysis bullosa in the Republic of Dagestan

Лечащий Врач, 2022
Congenital epidermolysis bullosa refers to orphan (rare – no more than 10 cases per 100,000 population) diseases. In the Russian Federation, its prevalence rate in 2016 was 3,9 per 1 million population. The objective was to study the clinical and genetic
K. M. Gadzhimuradova, M. A. Ivanova, M. N. Gadzhimuradov, S. N. Alieva   +3 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

Epidermolysis bullosa: A report of three cases with novel heterozygous deletions in PLEC and homozygous non sense mutations in COL7A1 genes

Indian Journal of Dermatology, 2022
Epidermolysis bullosa (EB) is a group of rare inherited conditions that results in blistering of the skin and mucous membranes. Mutations in the PLEC gene cause epidermolysis bullosa simplex (EBS).
Sunitha Tella, Shehnaz Sultana, Sujatha Madireddy, Pratibha Nallari, Venkateshwari Ananthapur   +4 more
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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.
Li Zhang, Shangshang Wang, Qinyi Chen, Leihong Xiang   +3 more
doaj   +1 more source