Epidermolysis bullosa

A Bardhan, L Bruckner-Tuderman… - Nature Reviews …, 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 …

[HTML][HTML] The diagnostic approach to monogenic very early onset inflammatory bowel disease

HH Uhlig, T Schwerd, S Koletzko, N Shah… - Gastroenterology, 2014 - Elsevier
Patients with a diverse spectrum of rare genetic disorders can present with inflammatory
bowel disease (monogenic IBD). Patients with these disorders often develop symptoms …

Very early onset inflammatory bowel disease: a clinical approach with a focus on the role of genetics and underlying immune deficiencies

J Ouahed, E Spencer, D Kotlarz… - Inflammatory bowel …, 2020 - academic.oup.com
Very early onset inflammatory bowel disease (VEO-IBD) is defined as IBD presenting before
6 years of age. When compared with IBD diagnosed in older children, VEO-IBD has some …

Clinical genomics for the diagnosis of monogenic forms of inflammatory bowel disease: a position paper from the Paediatric IBD Porto Group of European Society of …

HH Uhlig, F Charbit-Henrion, D Kotlarz… - Journal of pediatric …, 2021 - journals.lww.com
Background: It is important to identify patients with monogenic IBD as management may
differ from classical IBD. In this position statement we formulate recommendations for the …

Monogenic diseases associated with intestinal inflammation: implications for the understanding of inflammatory bowel disease

HH Uhlig - Gut, 2013 - gut.bmj.com
Inflammatory bowel disease (IBD), encompassing Crohn's disease and ulcerative colitis, has
multifactorial aetiology with complex interactions between genetic and environmental …

Extracutaneous manifestations and complications of inherited epidermolysis bullosa: part I. Epithelial associated tissues

JD Fine, JE Mellerio - Journal of the American Academy of Dermatology, 2009 - Elsevier
Based upon case reports and small case series, it has been known for many years that
some types and subtypes of inherited epidermolysis bullosa (EB) may be at risk for …

An integrated taxonomy for monogenic inflammatory bowel disease

C Bolton, CS Smillie, S Pandey, R Elmentaite, G Wei… - Gastroenterology, 2022 - Elsevier
Background & aims Monogenic forms of inflammatory bowel disease (IBD) illustrate the
essential roles of individual genes in pathways and networks safeguarding immune …

[HTML][HTML] Characterization of human colon organoids from inflammatory bowel disease patients

E d'Aldebert, M Quaranta, M Sébert… - Frontiers in cell and …, 2020 - frontiersin.org
Inflammatory Bowel Diseases (IBD) are chronic inflammatory disorders, where epithelial
defects drive, at least in part, some of the pathology. We reconstituted human intestinal …

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 …

A consensus approach to wound care in epidermolysis bullosa

E Pope, I Lara-Corrales, J Mellerio, A Martinez… - Journal of the American …, 2012 - Elsevier
BACKGROUND: Wound care is the cornerstone of treatment for patients with epidermolysis
bullosa (EB); however, there are currently no guidelines to help practitioners care for these …