Epidermolysis bullosa

@article{Bardhan2020EpidermolysisB,
  title={Epidermolysis bullosa},
  author={Ajoy Bardhan and Leena Bruckner-Tuderman and Iain L C Chapple and J‐D. Fine and Natasha Harper and Cristina Has and Thomas M. Magin and M. Peter Marinkovich and John F Marshall and John A. McGrath and Jemima E. Mellerio and Rex Polson and Adrian H M Heagerty},
  journal={Nature Reviews Disease Primers},
  year={2020},
  volume={6},
  pages={1-27}
}
Epidermolysis bullosa (EB) is an inherited, heterogeneous group of rare genetic dermatoses characterized by mucocutaneous fragility and blister formation, inducible by often minimal trauma. A broad phenotypic spectrum has been described, with potentially severe extracutaneous manifestations, morbidity and mortality. Over 30 subtypes are recognized, grouped into four major categories, based predominantly on the plane of cleavage within the skin and reflecting the underlying molecular abnormality… 
Investigational Treatments for Epidermolysis Bullosa
TLDR
Advances in translational research that are impacting on the quality of life for people living with different forms of EB are reviewed and which offer hope for improved clinical management are reviewed.
Squamous Cell Carcinoma in Patients with Inherited Epidermolysis Bullosa: Review of Current Literature
TLDR
CSCC in EB seems to be the result of many complex interactions among cancer cells, skin microenvironment, susceptibility to DNA mutations and host immune response, as well as new therapies for this condition.
Dystrophic Epidermolysis Bullosa: Secondary Disease Mechanisms and Disease Modifiers
TLDR
A selection of key disease modifiers and modifying processes active in DEB are discussed, the still scattered knowledge of them is summarized, and ways forward toward their utilization for symptom-relief or enhancement of curative therapies are reflected.
Current developments in gene therapy for epidermolysis bullosa.
TLDR
The heterogeneity of EB justifies the development of therapeutic options with distinct modes of action at a DNA or RNA level, and splicing-modulating therapies, based on RNA trans-splicing or short antisense oligonucleotides, especially designer nucleases, likely represent the most promising gene therapy tool in the near future.
Diagnosis and Care of the Newborn with Epidermolysis Bullosa.
TLDR
The basic classification of EB is summarized, the preferred methods of diagnosis including a panel of next-generation sequencing for all types of EB, as well as specific immunofluorescence and electron microscopy of skin biopsies in special circumstances are discussed.
Multidisciplinary care for patients with epidermolysis bullosa from birth to adolescence: experience of one Italian reference center
TLDR
An adequate management of EB patients require a multidisciplinary approach with an educational plan to guarantee an appropriate treatment and to support and accompany patients and their families since birth along life.
A Familial Form of Epidermolysis Bullosa Simplex Associated with a Pathogenic Variant in KRT5
TLDR
This is the first report showing a familial form of EBS due to the pathogenic variant c.967G>A (p.Val323Met) in the KRT5 gene, which co-segregated with EBS in the family pedigree and was transmitted in an autosomal dominant inheritance manner.
Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex
TLDR
Many instances of positive feedback in the course of cellular stress and the development of sterile inflammation led to systemic chronic inflammation in EBS, which highlights the role of keratin in the maintenance of epidermal and immune homeostasis.
Canine junctional epidermolysis bullosa due to a novel mutation in LAMA3 with severe upper respiratory involvement.
TLDR
A novel variant in LAMA3 caused a generalized and severe phenotype of JEB with an unique clinical presentation of upper airway obstruction in a litter of puppies with severe upper respiratory involvement.
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Inherited epidermolysis bullosa and squamous cell carcinoma: a systematic review of 117 cases
TLDR
This study correlated with historical data shows that most of the cSCCs occurred in subjects with the RDEB subtype, however reports also show that cS CCs can present in any patients with EB, and further emphasizes the importance of regular monitoring of EB patients, particularly as they developed cScc at a younger age.
Molecular epidemiology of junctional epidermolysis bullosa: discovery of novel and frequent LAMB3 mutations in Chilean patients with diagnostic significance
TLDR
The junctional form of EB (JEB, OMIM #226650 and #226700) is a monogenic autosomal recessive disorder characterized by blistering within the lamina lucida.
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TLDR
Clinical trials of new translational therapies in RDEB offer hope for improved clinical management of patients as well as generating broader lessons for regenerative medicine that could be applicable to other inherited or acquired abnormalities of wound healing or scarring.
Treatment of epidermolysis bullosa pruriginosa‐associated pruritus with dupilumab
TLDR
In addition to usual manifestations of DEB including trauma-induced skin fragility, milia and nail dystrophy, EBP features severe pruritus, prurigo nodularis and lichen simplex chronicus-like lesions which may resemble other dermatoses and thereby complicate clinical diagnosis.
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TLDR
How laboratory investigations centered on keratin biology have deepened the understanding of the etiology and pathophysiology of EB simplex and revealed novel avenues for its therapy is reviewed.
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TLDR
In patients with epidermolysis bullosa dystrophica, carcinoma developed in the mouth, ostium cardiacum, and in the midesophagus, with extension into the lungs, but abnormal collagen scarring is the most likely cause.
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