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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.
Juliana Santin +2 more
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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
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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 +3 more
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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
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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 +4 more
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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 +3 more
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Epidermolysis bullosa acquisita treated with ustekinumab: A case report
SAGE Open Medical Case Reports, 2022 Epidermolysis bullosa acquisita is a rare autoimmune disease involving cutaneous blistering and scarring associated with collagen VII autoantibodies.
Connor Prosty +4 more
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Acta Dermato-Venereologica, 2021 Epidermolysis bullosa encompasses a group of inherited blistering skin disorders. The pathogenic mutations in 10–25% of patients with epidermolysis bullosa have not been identified by Sanger sequencing.
Yueqian Yu +8 more
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Correlation between nutritional, hematological and infectious characteristics and classification of the type of epidermolysis bullosa of patients assisted at the Dermatology Clinic of the Hospital Universitário de Brasília [PDF]
Anais Brasileiros de Dermatologia, 2015 : Epidermolysis bullosa comprises a group of phenotypically different genodermatosis, hereditary or acquired, characterized by skin fragility and subsequent formation of blisters in response to mechanical trauma, and which may also affect mucous ...
Márcia Carolline dos Santos Sousa +3 more
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Epidermolysis Bullosa—A Different Genetic Approach in Correlation with Genetic Heterogeneity
Diagnostics, 2022 Epidermolysis bullosa is a heterogeneous group of rare genetic disorders characterized by mucocutaneous fragility and blister formation after minor friction or trauma. There are four major epidermolysis bullosa types based on the ultrastructural level of
Monica-Cristina Pânzaru +4 more
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