Results 51 to 60 of about 25,211 (207)

Epidermolysis bullosa: how social support affects quality of life

, 2018
Measuring quality of life has become an increasingly important method of evaluating the effect of health and social care interventions. The rare genetic condition epidermolysis bullosa is known to have a deep social impact on people’s quality of life ...
Butterworth, Sondra, Martin, Kate, Mason-Whitehead, Elizabeth, Mitchell, Andrew E. P.   +3 more
core   +2 more sources

Management of Recessive Dystrophic Epidermolysis Bullosa in a Newborn with Porcine-derived Extracellular Matrix

Plastic and Reconstructive Surgery, Global Open, 2019
Summary:. Epidermolysis bullosa is a debilitating dermatologic disorder affecting the adhesive capability between the epidermis and dermis. The severe recessive dystrophic variant is caused by mutations in COL7A1, the gene encoding type VII collagen ...
Nicole K. Le, BS, Alicia Billington, MD, PhD, Michael Harrington, MD, MPH, Lucia Seminario-Vidal, MD, PhD   +3 more
doaj   +1 more source

Multisystem Mucosal Morbidity in Recessive Dystrophic Epidermolysis Bullosa Inversa

Pediatric Dermatology, EarlyView.
ABSTRACT Background/Objectives Recessive dystrophic epidermolysis bullosa inversa (RDEB‐I) is a rare subtype of dystrophic epidermolysis bullosa (EB) characterized by intertriginous cutaneous involvement and frequent mucosal disease. Although mucosal involvement is recognized in RDEB‐I, its cumulative clinical burden remains poorly defined.
Valerie R. Stichert, Nichole Halliburton, Sarah Crawford, Jennifer Phillips, Kalyani S. Marathe, Beth A. Moeves   +5 more
wiley   +1 more source

Dystrophic epidermolysis bullosa: secondary disease mechanisms and disease modifiers

, 2021
The phenotypic presentation of monogenetic diseases is determined not only by the nature of the causative mutations but also is influenced by manifold cellular, microenvironmental, and external factors.
Nyström, Alexander, Kiritsi, Dimitra, Bruckner-Tuderman, Leena   +2 more
core   +1 more source

Real‐World Experience With Oleogel‐S10 for Wounds in Epidermolysis Bullosa

JEADV Clinical Practice
Background Oleogel‐S10 is the first approved drug for the treatment of wounds in patients with junctional and dystrophic epidermolysis bullosa. Results from the clinical trials, early access programme and open‐label study are available, showing good ...
Miodrag Davidovic, Stella Gewert, Cristina Has   +2 more
doaj   +1 more source

Epidermolysis Bullosa—A Kindler Syndrome Case Report and Short Literature Review

Clinics and Practice, 2023
Introduction: Epidermolysis bullosa (EB) represents a group of rare disorders, genetically determined, characterized by skin fragility, blister formation and erosions due to minimal trauma.
Bogdan Ioan Stefanescu, Diana Sabina Radaschin, Geta Mitrea, Lucretia Anghel, Adrian Beznea, Georgiana Bianca Constantin, Alin Laurentiu Tatu   +6 more
doaj   +1 more source

Genetic risk variants implicate impaired maintenance and repair of periodontal tissues as causal for periodontitis—A synthesis of recent findings

Periodontology 2000, EarlyView.
AbstractPeriodontitis is a complex inflammatory disease in which the host genome, in conjunction with extrinsic factors, determines susceptibility and progression. Genetic predisposition is the strongest risk factor in the first decades of life. As people age, chronic exposure to the periodontal microbiome puts a strain on the proper maintenance of ...
Arne S. Schaefer, Luigi Nibali, Noha Zoheir, Niki M. Moutsopoulos, Bruno G. Loos   +4 more
wiley   +1 more source

Diversity ofmechanisms underlying latent TGF-[beta] activation in recessive dystrophic epidermolysis bullosa

, 2021
Injury- and inflammation-driven progressive dermal fibrosis is a severe manifestation of recessive dystrophic epidermolysis bullosa—a genetic skin blistering disease caused by mutations in COL7A1.
Kleiser, Svenja, Sengle, Gerhard, Nyström, Alexander, Akasaka, Eijiro, Bruckner-Tuderman, Leena   +4 more
core   +1 more source

A rare case of COL71A1 heterozygous mutations resulting in neonatal dystrophic epidermolysis bullosa

Clinical and Experimental Obstetrics & Gynecology, 2020
Epidermolysis bullosa is a group of rare hereditary vesicular skin diseases associated with mutations of COL7A1. At present, there is no effective treatment.
Q. Yuan, D. Hu, T.T. Zhu, Q.W. Zhang, Y.H. Gong   +4 more
doaj   +1 more source

SINE Insertion in LAMA3 in Dogs With Junctional Epidermolysis Bullosa

Animal Genetics, Volume 57, Issue 5, October 2026.
ABSTRACT Junctional epidermolysis bullosa (JEB) is a hereditary skin disorder caused by defects in proteins responsible for dermal‐epidermal adhesion. We investigated the genetic cause of JEB in three related mixed‐breed puppies presenting with congenital skin blistering and ulceration. Whole‐genome sequencing of one affected dog followed by comparison
Sarah Kiener, Ronnie Kaufmann, Ori Brenner, Vidhya Jagannathan, Tosso Leeb   +4 more
wiley   +1 more source