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Publication
Journal: Nature Reviews Disease Primers
September/24/2020
Abstract
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: EB simplex, junctional EB, dystrophic EB and Kindler EB. The study of EB has led to seminal advances in our understanding of cutaneous biology. To date, pathogenetic mutations in 16 distinct genes have been implicated in EB, encoding proteins influencing cellular integrity and adhesion. Precise diagnosis is reliant on correlating clinical, electron microscopic and immunohistological features with mutational analyses. In the absence of curative treatment, multidisciplinary care is targeted towards minimizing the risk of blister formation, wound care, symptom relief and specific complications, the most feared of which - and also the leading cause of mortality - is squamous cell carcinoma. Preclinical advances in cell-based, protein replacement and gene therapies are paving the way for clinical successes with gene correction, raising hopes amongst patients and clinicians worldwide.
Publication
Journal: Nature Reviews Disease Primers
September/24/2020
Related with
Publication
Journal: Indian Journal of Dermatology, Venereology and Leprology
August/1/2007
Abstract
A case of recurrent vesiculobullous eruptions over shins, clinically diagnosed as epidermolysis bullosa of pretibial variety confirmed by electron microscope is reported here as a rare variety of localised epidermolysis bullosa (EB).
Related with
Publication
Journal: Oral surgery, oral medicine, and oral pathology
June/18/1989
Abstract
During the last 10 years, there has been considerable progress in the knowledge of epidermolysis bullosa, which has led to recognition of at least 18 different varieties. This review article attempts to classify these varieties and to emphasize the orodental findings in patients with epidermolysis bullosa.
Publication
Journal: Anales de la Real Academia Nacional de Medicina
March/20/2000
Abstract
The epidermolysis bullosa are a group of genodermatoses in which there is congenital fragility of the skin which produce blisters with the least of traumas. The group includes up to thirty clinical-genetical entities. They are classified according to the level where the blister is found into simplex or epidermolytic (intraepitelial blister), junctional (blister in the dermoepidermal junction) and dystrophic or dermolytic (subepidermal blister) epidermolysis bullosa. The symptoms, classic or Mendelian genetics and the recent findings in the most frequent forms of each one of these groups are reviewed. In most of them, the gene that produces the mutations and the chromosome in which its locus is found are known. In the simplex forms, the disorders lies in the genes that codify the different keratins. In the junctional ones, mutations are found in the laminin genes that act in the development of the anchoring filaments or in those of the other components of the basement membrane. In the dystrophic ones, which are the most serious, the mutations affect the collagen VII gene that codify the development of the anchoring fibrils. There is no treatment for any of the forms of epidermolysis bullosa. It is possible that the future advances in genetic engineering can contribute to their prophylaxis.
Publication
Journal: Annual Review of Medicine
May/16/1993
Abstract
Epidermolysis bullosa is a group of genetically determined diseases characterized by abnormal fragility of the skin and mucosa. In this chapter, we review current thinking about classification, pathogenesis, and molecular genetics, and we discuss management guidelines.
Publication
Journal: Ugeskrift for Laeger
December/5/2017
Abstract
Epidermolysis bullosa (EB) is a rare genodermatosis. A new classification system is presented, distinguishing the subtypes of EB, and this system is based on the phenotype, mode of inheritance, ultrastructure, immunofluorescence findings, and specific mutation(s) present. EB is inherited in an autosomal dominant or -recessive fashion. Clinical manifestations vary in severity and character according to subtype. The severity ranges from mild localized to life-threatening. Available treatment is mainly symptomatic with therapeutic treatment in an experimental stage.
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Publication
Journal: Birth defects original article series
June/20/1982
Abstract
The disorders known as epidermolysis bullosa constitute a group of genetic diseases of the skin which in the mildest form are debilitating throughout life and in the most severe forms result in death at an early age. The profound morbidity associated with all forms of the disease results not only in the loss of an economically productive life but also, in many cases, in the need for continuing medical care throughout life. Inroads are being made into potential pathogenic mechanisms in certain forms of EB. The current state of knowledge can best be characterized as a number of potentially significant disparate observations from various disciplines. The ultimate goals of research in EB are not only to understand the disease but also to provide the biochemical tools for reliable genetic classification, for antenatal diagnosis, and for rational modes of therapy.
Authors
Publication
Journal: Archives of dermatology
August/6/1982
Publication
Journal: Journal of the Royal Naval Medical Service
December/26/2007
Authors
Publication
Journal: Oral surgery, oral medicine, and oral pathology
December/14/1971
Authors
Publication
Journal: Clinical proceedings - Children's Hospital of the District of Columbia
April/30/2002
Publication
Journal: Archives of dermatology and syphilology
November/11/2010
Publication
Journal: Archives of dermatology and syphilology
November/11/2010
Publication
Journal: Indian journal of dermatology and venereology
November/26/2017
Related with
Publication
Journal: Archives of Disease in Childhood
April/30/2003
Publication
Journal: International Journal of Dermatology
May/29/1986
Publication
Journal: Harefuah
July/15/1974
Publication
Journal: A.M.A. archives of dermatology
April/30/2003
Authors
Publication
Journal: Proceedings of the Royal Society of Medicine
June/23/2010
Authors
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Publication
Journal: Proceedings of the Royal Society of Medicine
June/21/2010
Authors
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Publication
Journal: British Journal of Radiology
October/31/1998
Publication
Journal: American journal of diseases of children (1911)
September/29/2004
Publication
Journal: Archives of dermatology and syphilology
November/11/2010
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