Epidermolysis bullosa
A Bardhan, L Bruckner-Tuderman… - Nature reviews Disease …, 2020 - nature.com
Epidermolysis bullosa (EB) is an inherited, heterogeneous group of rare genetic dermatoses
characterized by mucocutaneous fragility and blister formation, inducible by often minimal …
characterized by mucocutaneous fragility and blister formation, inducible by often minimal …
Childhood cancer predisposition syndromes—a concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric …
T Ripperger, SS Bielack, A Borkhardt… - American journal of …, 2017 - Wiley Online Library
Heritable predisposition is an important cause of cancer in children and adolescents.
Although a large number of cancer predisposition genes and their associated syndromes …
Although a large number of cancer predisposition genes and their associated syndromes …
Epidermolysis bullosa-associated squamous cell carcinoma: from pathogenesis to therapeutic perspectives
AG Condorelli, E Dellambra, E Logli… - International journal of …, 2019 - mdpi.com
Epidermolysis bullosa (EB) is a heterogeneous group of inherited skin disorders determined
by mutations in genes encoding for structural components of the cutaneous basement …
by mutations in genes encoding for structural components of the cutaneous basement …
A systematic literature review of the disease burden in patients with recessive dystrophic epidermolysis bullosa
JY Tang, MP Marinkovich, E Lucas, E Gorell… - Orphanet journal of rare …, 2021 - Springer
Background/objective Recessive dystrophic epidermolysis bullosa (RDEB) is a genetic
collagen disorder characterized by skin fragility leading to blistering, wounds, and scarring …
collagen disorder characterized by skin fragility leading to blistering, wounds, and scarring …
Inflammation-mediated fibroblast activation and immune dysregulation in collagen VII-deficient skin
M Anderson-Crannage, AM Ascensión… - Frontiers in …, 2023 - frontiersin.org
Inflammation is known to play a critical role in all stages of tumorigenesis; however, less is
known about how it predisposes the tissue microenvironment preceding tumor formation …
known about how it predisposes the tissue microenvironment preceding tumor formation …
[HTML][HTML] Dystrophic epidermolysis bullosa: secondary disease mechanisms and disease modifiers
A Nyström, L Bruckner-Tuderman, D Kiritsi - Frontiers in Genetics, 2021 - frontiersin.org
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 …
of the causative mutations but also is influenced by manifold cellular, microenvironmental …
Stromal microenvironment in type VII collagen-deficient skin: The ground for squamous cell carcinoma development
L Guerra, T Odorisio, G Zambruno, D Castiglia - Matrix Biology, 2017 - Elsevier
Recessive dystrophic epidermolysis bullosa (RDEB) is a skin fragility disease caused by
mutations that affect the function and/or the amount of type VII collagen (C7), the major …
mutations that affect the function and/or the amount of type VII collagen (C7), the major …
Impaired wound healing, fibrosis, and cancer: the paradigm of recessive dystrophic epidermolysis bullosa
G Tartaglia, Q Cao, ZM Padron, AP South - International journal of …, 2021 - mdpi.com
Recessive Dystrophic Epidermolysis Bullosa (RDEB) is a devastating skin blistering disease
caused by mutations in the gene encoding type VII collagen (C7), leading to epidermal …
caused by mutations in the gene encoding type VII collagen (C7), leading to epidermal …
Mesenchymal stem cell–derived extracellular vesicles as an advanced therapy for chronic wounds
ER Bray, RS Kirsner… - Cold Spring Harbor …, 2022 - cshperspectives.cshlp.org
Chronic wounds are a significant challenge for patients, healthcare providers, and
healthcare systems. Chronic wounds develop due to a complex interplay between chronic …
healthcare systems. Chronic wounds develop due to a complex interplay between chronic …
[HTML][HTML] Cutaneous squamous cell carcinoma in epidermolysis bullosa: a 28-year retrospective study
SJ Robertson, E Orrin, MK Lakhan… - Acta dermato …, 2021 - ncbi.nlm.nih.gov
Epidermolysis bullosa (EB), notably severe recessive dystrophic EB (RDEB-S), is associated
with increased risk of aggressive mucocutaneous squamous cell carcinomas, the major …
with increased risk of aggressive mucocutaneous squamous cell carcinomas, the major …