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 …
characterized by mucocutaneous fragility and blister formation, inducible by often minimal …
Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility
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 …
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 …
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 …
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 …
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 …
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 …
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 …
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 …
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 …
understanding, diagnosis, and management of several areas within dermatology. NGS has …