Results 111 to 120 of about 81,034 (193)

ISEV2026 Abstract Book

Journal of Extracellular Vesicles, Volume 15, Issue S1, June 2026.
wiley   +1 more source

Correlation between measured oral health and oral health-related quality of life in people with epidermolysis bullosa: a prospective cohort study

BMC Oral Health
Background Inherited epidermolysis bullosa (EB) is a genetic disorder characterized by skin fragility and unique oral features. This prospective study aimed to analyze the correlation between oral health-related quality of life (OHRQoL) and the ...
Theresa Joanning, Guilherme Trento, Jeanette Köppe, Linda Daume, Johannes Kleinheinz, Marcel Hanisch, Ole Oelerich   +6 more
doaj   +1 more source

Eruptive large melanocytic nevus in a patient with hereditary epidermolysis bullosa simplex

, 2003
Hereditary epidermolysis bullosa (HEB) is a group of genetically determined mechanobullous disorders characterized by blister formation following minor trauma. Unusual melanocytic lesions may be a rare feature of all major categories of HEB.
Georgala, S, Petropoulou, H, Moussatou, V, Bozi, E, Katoulis, AC, Limas, C, Stavrianeas, NG   +6 more
core   +1 more source

Epidermolysis Bullosa Simplex With Dystonin Gene Mutation: First Reported Case in Saudi Arabia. [PDF]

Cureus, 2023
Al Towijry M, Alanazi AMM, Eldesoky F, Alharthi YH, Albalawi IAS.   +4 more
europepmc   +1 more source

Ocular Gene Therapy in a Patient with Dystrophic Epidermolysis Bullosa

Dystrophic epidermolysis bullosa is a rare genetic disease caused by damaging variants in COL7A1 , which encodes type VII collagen. Blistering and scarring of the ocular surface develop, potentially leading to blindness.
Agostini, Brittani, Parry, Trevor, Sayed-Ahmed, Ibrahim, Gomez, Jennifer, Carroll, Kate, Tovar Vetencourt, Arianna, Chen, Hubert, Krishnan, Suma, Sabater, Alfonso L.   +8 more
core   +1 more source

Studies - 'neural network' algorithm to predict severity in epidermolysis bullosa simplex

, 2005
BACKGROUND AND AIMS: There are various genotypic variations known for the four phenotypic presentations of epidermolysis bullosa simplex (EBS). A neural network algorithm may be used to find the relationship between the various factors responsible ...
Bell Raj Eapen
core   +1 more source

A Familial Form of Epidermolysis Bullosa Simplex Associated with a Pathogenic Variant in KRT5. [PDF]

Genes (Basel), 2021
Paduano F, Colao E, Grillone T, Vismara MFM, Amato R, Nisticò S, Mignogna C, Dastoli S, Fabiani F, Zucco R, Trapasso F, Perrotti N, Iuliano R.   +12 more
europepmc   +1 more source

Validity of first-time diagnoses of congenital epidermolysis bullosa in the Danish National Patient Registry and the Danish Pathology Registry

, 2019
Mattias Hedegaard Kristensen,1 Sigrún Alba Jóhannesdóttir Schmidt,2 Line Kibsgaard,1 Mette Mogensen,3 Mette Sommerlund,1 Uffe Koppelhus1 1Department of Dermatology, Aarhus University Hospital, Aarhus, Denmark; 2Department of Clinical
Mogensen M, Sommerlund M, Kristensen MH, Kibsgaard L, Koppelhus U, Schmidt SAJ   +5 more
core  

Koebner's epidermolysis bullosa simplex.

Indian journal of dermatology, venereology and leprology, 2007
A 26 year-old male presented with vesicobullous lesions over the bony prominences and acral regions. On, examination these lesions were tense, and some were haemorrhagic. Family history of similar lesions was absent.
V, Madan, U, Gupta
openaire   +1 more source

A translation re-initiation variant in KLHL24 also causes epidermolysis bullosa simplex and dilated cardiomyopathy via intermediate filament degradation. [PDF]

Br J Dermatol, 2022
Vermeer MCSC, Al-Shinnag M, Silljé HHW, Gaytan AE, Murrell DF, McGaughran J, Melbourne W, Cowan T, van den Akker PC, van Spaendonck-Zwarts KY, van der Meer P, Bolling MC.   +11 more
europepmc   +1 more source