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 …

Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility

C Has, JW Bauer, C Bodemer… - British Journal of …, 2020 - academic.oup.com
Background Several new genes and clinical subtypes have been identified since the
publication in 2014 of the report of the last International Consensus Meeting on …

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

LM Mariath, JT Santin, L Schuler-Faccini… - Anais brasileiros de …, 2020 - SciELO Brasil
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 …

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 …

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 …

Novel insights into the epidemiology of epidermolysis bullosa (EB) from the Dutch EB Registry: EB more common than previously assumed?

R Baardman, VK Yenamandra… - Journal of the …, 2021 - Wiley Online Library
Background Epidermolysis bullosa (EB) is a heterogeneous group of rare and incurable
genetic disorders characterized by fragility of the skin and mucosae, resulting in blisters and …

Epidemiology of inherited epidermolysis bullosa in Germany

C Has, M Hess, W Anemüller… - Journal of the …, 2023 - Wiley Online Library
Background Epidermolysis bullosa (EB) is a rare genetic disorder manifesting with skin and
mucosal membrane blistering in different degrees of severity. Objective Epidemiological …

The impact of epidermolysis bullosa on the family and healthcare practitioners: a scoping review

AV Chateau, D Blackbeard… - International Journal of …, 2023 - Wiley Online Library
Background Epidermolysis bullosa (EB) is an inherited genodermatosis that results in
mucocutaneous fragility. There is a lack of data on the impact of this disease on parents …

Practical management of epidermolysis bullosa: consensus clinical position statement from the European Reference Network for Rare Skin Diseases

C Has, M El Hachem, H Bučková… - Journal of the …, 2021 - Wiley Online Library
Inherited epidermolysis bullosa (EB) comprises rare disorders that manifest with fragility and
blistering of the skin and mucous membranes, with variable clinical severity. Management of …

Next-generation sequencing in dermatology

AD King, H Deirawan, PA Klein, B Dasgeb… - Frontiers in …, 2023 - frontiersin.org
Over the past decade, Next-Generation Sequencing (NGS) has advanced our
understanding, diagnosis, and management of several areas within dermatology. NGS has …