In dystrophic epidermolysis bullosa the genetic defect of anchoring fibrils leads to cleavage beneath the basement membrane, with its consequent loss. We performed scanning electron microscopy of an inverted blister roof of a case of dystrophic epidermolysis bullosa, confirmed by immunomapping and gene sequencing. With a magnification of 2000 times a net attached to the blister roof could be ea...

Epidermolysis bullosa simplex Weber-Cockayne type (EBS-WC) is a genetically inherited skin disease characterized by blistering restricted to the palms and soles. Its inheritance in nearly all kindreds is caused by a dominant-negative mutation in either KRT5 or KRT14, the genes encoding keratin 5 and keratin 14 proteins, respectively. Rarely, recessive mutations have also been found. We describe...

Background: Recent studies have shown that cytokines have an important role in the pathogenesis of inflammatory diseases and can be used as prognostic markers. Objective: To evaluate the IL-6/IL-10 ratio in patients with Inherited Epidermolysis Bullosa (EB) as a prognostic marker. Methods: Serum levels of IL-6 and IL-10 were measured in 13 patients with recessive dystrophic EB (RDEB) as well as...

Patients with epidermolysis bullosa (EB) provide a unique and complex challenge for the anaesthesiologist. This is rare inherited group of diseases characterized by excessive fragility skin mucous membranes. These patients tolerate compressive forces to but barely friction shearing forces. Major challenges anaesthetist include establishing adequate monitoring without damaging skin, issues posit...

Marsden, R. A., Sambrook Gowar, F. J., MacDonald, A. F., and Main, R. A. (1974). Thorax, 29, 287-295. Epidermolysis buBosa of the oesophagus with oesophageal web formation. Four members of a family are described with epidermolysis bullosa dystrophica of probable autosomal recessive inheritance. They have shown the typical blistering of the skin and oral mucosa, usually present at birth, which o...

in this paper, two patients with severe dysphagia and esophageal stricture secondary to epidermolysis bullosa are presented and discussed. they are siblings of an affected family. primary resection and anastomosis had been performed previously in both patients, but dysphagia had recurred. we treated these patients with free jejunal graft to the esophagus with excellent results. both patients ar...

context connective tissue cells include fibroblasts, chondrocytes, adipocyte, and osteocytes. these cells are specialized for the secretion of collagenous extracellular matrix and are responsible for the architectural framework of the human body. evidence acquisition connective tissue cells play a central role in supporting as well as repairing tissues and organs. fibroblast cell therapy could ...