Epidermolysis bullosa simplex (EBS) is caused by defective assembly of keratin intermediate filaments in basal keratinocytes and recent studies indicated causal mutations in the keratin KRT5 and KRT14 genes. In this study, we describe a novel KRT5 mutation in a German sporadic case of EBS Dowling-Meara. Transition of G to T (nucleotide position 2334) leads to a premature stop codon (E477stop, r...

Junctional epidermolysis bullosa (JEB) is an autosomal recessive skin blistering disease with both lethal and nonlethal forms, with most patients shown to have defects in laminin-5. We analyzed the location of mutations, gene expression levels, and protein chain assembly of the laminin-5 heterotrimer in six JEB patients to determine how the type of genetic lesion influences the pathophysiology ...

Recessive dystrophic epidermolysis bullosa (RDEB) is among the most serious rare skin diseases. It is also the rare skin disease for which most effort has been expended in developing advanced therapeutic interventions. RDEB is caused by collagen VII deficiency resulting from COL7A1 mutations. Therapeutic approaches seek to replenish collagen VII and thus restore dermal-epidermal adhesion. Thera...

Epidermolysis Bullosa (EB) is a rare genetic blistering-skin disorder with varying degrees of severity, ranging from mild forms to severe forms, with chronic progression. The aim of this study was to identify and specify the problems of parents of a child with EB. Qualitative research methodology was used, comprising a series of semistructured interviews with eleven families. The key problems o...

Epidermolysis bullosa (EB) consists of a group of genetic hereditary disorders in which patients frequently present fragile skin and mucosa that form blisters following minor trauma. More than 20 subtypes of EB have been recognized in the literature. Specific genetic mutations are well characterized for most the different EB subtypes and variants. The most common oral manifestations of EB are p...

Tversky (1972) has proposed a family of models for paired-comparison data that generalize the Bradley-Terry-Luce (BTL) model and can, therefore, apply to a diversity of situations in which the BTL model is doomed to fail. In this article, we present a Matlab function that makes it easy to specify any of these general models (EBA, Pretree, or BTL) and to estimate their parameters. The program el...

Dystrophic epidermolysis bullosa is caused by mutations in the COL7A1 gene. The disease characterized clinical heterogeneity. To date, scientific findings allow to evaluate correlations between severity of manifestations and genetic defects underlying development disease. A systematic literature search was performed using PubMed RSCI, keywords including dystrophic bullosa, collagen VII, COL7A1....

Epidermolysis bullosa is an intractable skin condition characterized by the development of vesicles and bullae spontaneously or as a result of minimal trauma. It is usually hereditary and appears to be due to a congenital defect of skin structure. It has been divided into a simple or non-scarring type inherited as a Mendelian dominant trait and a dystrophic or scarring variety of greater severi...

In this study, we demonstrate the use of a genome-wide association mapping together with RNA-seq in a reduced number of samples, as an efficient approach to detect the causal mutation for a Mendelian disease. Junctional epidermolysis bullosa is a recessive genodermatosis that manifests with neonatal mechanical fragility of the skin, blistering confined to the lamina lucida of the basement membr...

A 20-year-old woman diagnosed as having epidermolysis bullosa acquisita (EBA) presented with dysphagia and odynophagia. Upper gastrointestinal endoscopy revealed a web in the upper esophagus, for which endoscopic dilatation was done. Following this, the patient remained asymptomatic for 2 years, after which she again presented with recurrence of symptoms. Clinical examination showed multiple er...