Epidermolysis bullosa (EB) encompasses a group of inherited blistering skin disorders classified into three main subtypes of simplex, junctional and dystrophic. In recent years there have been substantial advances in our understanding of the molecular basis of these conditions and in the management of such patients. In spite of this progress, squamous cell carcinoma (SCC) is still a major cause...

Fibroblast cultures from patients with recessive dystrophic epidermolysis bullosa (RDEB) demonstrated an increased capacity to synthesize and secrete collagenase. This phenotypic trait appeared to distinguish RDEB from other genetically distinct forms of epidermolysis bullosa. The finding of increased collagenase may be a specific manifestation of these cells in that prototypic lysosomal and cy...

Epidermolysis bullosa (EB), an inherited disorder presents clinically with recurrent cutaneous blister formation with possible involvement of mucous membranes and other organs. The sequelae of this disease pose multiple challenges to the anaesthetist and operating room team. Recent literature describes several anaesthetic techniques for the short surgical procedures this patient population may ...

Epidermolysis bullosa is a group of inherited disorders that can be both systemic and life-threatening. Standard treatments for the most severe forms of this disorder, typically limited to palliative care, are ineffective in reducing the morbidity and mortality due to complications of the disease. Emerging therapies-such as the use of allogeneic cellular therapy, gene therapy, and protein thera...

Epidermolysis bullosa (EB) is a heterogeneous group of rare genetic disorders characterized by marked fragility of the skin and mucous membranes in which vesiculobullous lesions occur in response to trauma, heat or no apparent cause. The recessive form of EB presents the greatest oral alterations including repeated blistering and scar formation leading to limited oral opening, ankyloglossia, to...

Inherited skin fragility disorders comprise a group of disorders, mainly designated as epidermolysis bullosa (EB), that are characterised by mechanical induced blistering and erosions of the skin and mucous membranes caused by mutations of gene coding for protein components of the dermal–epidermal junction zone. Patients with EB experience various degrees of recurrent skin blistering, widesprea...

Chronic leg ulcers occur most frequently in the elderly population as a result of an underlying vascular disease especially chronic venous insufficiency. But it also occurs less commonly in younger people due to other aetiologies, for example, infections, vasculitis, neoplasia or genetic diseases. The following case report presents chronic leg ulcers as a rare cause for the first diagnosis of d...

We report a 20-year-old female with generalized, severe, recessive dystrophic epidermolysis bullosa who developed secondary chronic anal fissures. This resulted in anal sphincter spasm and severe, disabling pain. She was treated with five botulinum toxin A injections into the internal anal sphincter over a period of 2 years and gained marked improvement in her symptoms. This case demonstrates t...