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 …

The group of epidermal nevus syndromes: Part I. Well defined phenotypes

R Happle - Journal of the American Academy of Dermatology, 2010 - Elsevier
The epidermal nevus syndromes represent a group of distinct disorders that can be
distinguished by the type of associated epidermal nevus and by the criterion of presence or …

Investigational treatments for epidermolysis bullosa

PC Hou, HT Wang, S Abhee, WT Tu… - American Journal of …, 2021 - Springer
Epidermolysis bullosa (EB) is a heterogeneous group of rare inherited blistering skin
disorders characterized by skin fragility following minor trauma, usually present since birth …

The categories of cutaneous mosaicism: a proposed classification

R Happle - American Journal of Medical Genetics Part A, 2016 - Wiley Online Library
Mosaic disorders can most easily be studied in the skin. This article presents a
comprehensive overview of the different forms of cutaneous mosaicism. Major categories …

Laminin 332 in junctional epidermolysis bullosa

D Kiritsi, C Has, L Bruckner-Tuderman - Cell adhesion & migration, 2013 - Taylor & Francis
Laminin 332 is an essential component of the dermal-epidermal junction, a highly
specialized basement membrane zone that attaches the epidermis to the dermis and …

[HTML][HTML] A six-attribute classification of geneticmosaicism

V Martínez-Glez, J Tenorio, J Nevado, G Gordo… - Genetics in …, 2020 - Elsevier
Mosaicism denotes an individual who has at least two populations of cells with distinct
genotypes that are derived from a single fertilized egg. Genetic variation among the cell …

The genetics of skin fragility

C Has, L Bruckner-Tuderman - Annual Review of Genomics and …, 2014 - annualreviews.org
Genetic skin fragility manifests with diminished resistance of the skin and mucous
membranes to external mechanical forces and with skin blistering, erosions, and painful …

[HTML][HTML] Disorders of the cutaneous basement membrane zone—the paradigm of epidermolysis bullosa

L Bruckner-Tuderman, C Has - Matrix biology, 2014 - Elsevier
The cutaneous basement membrane zone (BMZ) is a highly specialized functional complex
that provides the skin with structural adhesion and resistance to shearing forces. Its …

Newer treatment modalities in epidermolysis bullosa

L Bruckner-Tuderman - Indian Dermatology Online Journal, 2019 - journals.lww.com
The term epidermolysis bullosa (EB) refers to a group of hereditary skin blistering diseases.
The group is clinically and genetically heterogeneous, but all EB forms are associated with …

The potential of gene therapy for recessive dystrophic epidermolysis bullosa

KS Subramaniam, MN Antoniou… - British Journal of …, 2022 - academic.oup.com
Epidermolysis bullosa (EB) encompasses a heterogeneous group of inherited skin fragility
disorders, with mutations in genes encoding the basement membrane zone (BMZ) proteins …