Results 11 to 20 of about 2,415 (163)

Epidermolysis Bullosa Simplex

open access: yesSeminars in dermatology, 1993
Epidermolysis Bullosa Simplex (EBS) is a genetic disorder usually characterized by an autosomal dominant mode of transmission in which the skin blisters in response to trivial mechanical trauma. There are several clinical variants of EBS, ranging from clinically mild to very severe and even lethal, but in all cases the primary lesion responsible for ...
So JY, Teng J.
europepmc   +2 more sources

Junctional Epidermolysis Bullosa in a 30-day-old Infant: A Case Report [PDF]

open access: yesJournal 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

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

open access: yesIndian 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
doaj   +1 more source

Inherited epidermolysis bullosa: update on the clinical and genetic aspects, [PDF]

open access: yesAnais 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

Severe generalized junctional epidermolysis bullosa in a newborn

open access: yesGAIMS 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

Epidermolysis Bullosa—A Different Genetic Approach in Correlation with Genetic Heterogeneity

open access: yesDiagnostics, 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
doaj   +1 more source

Epidermolysis Bullosa in Chinese Patients: Genetic Analysis and Mutation Landscape in 57 Pedigrees and Sporadic Cases

open access: yesActa 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
doaj   +1 more source

A Case of Epidermolysis Bullosa Simplex (Dowling-Meara 1 Type) in Newborn [PDF]

open access: yesNeonatal Medicine, 2022
Epidermolysis bullosa is a rare genetic skin disease in which skin easily peels off and blisters are formed with mild mechanical trauma. It is classified into simple, borderline, dysmorphic, and mixed type.
Gahyun Hong, Minsun Choi
doaj   +1 more source

Clinical periodontal diagnosis

open access: yesPeriodontology 2000, EarlyView., 2023
Abstract Periodontal diseases include pathological conditions elicited by the presence of bacterial biofilms leading to a host response. In the diagnostic process, clinical signs such as bleeding on probing, development of periodontal pockets and gingival recessions, furcation involvement and presence of radiographic bone loss should be assessed prior ...
Giovanni E. Salvi   +5 more
wiley   +1 more source

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