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...

INTRODUCTION AND OBJECTIVE In recent decades, an association has been reported between epidermolysis bullosa (EB) and dilated cardiomyopathy (DC). DC is typically in an advanced phase when detected, leading to a poorer prognosis. Our objective was to determine the prevalence of DC in patients with EB seen in Hospital San Joan de Déu in Barcelona, Spain, between May 1986 and April 2015. METHOD...

Epidermolysis bullosa (EB) is a rare disorder characterized by inherited skin adhesion defects with abnormal disruption of the epidermal-dermal junction in response to mechanical trauma. Our aim was to investigate a set of cytokine levels in serum samples from patients suffering from epidermolysis bullosa simplex (EBS), dystrophic epidermolysis bullosa (DEB), and healthy controls (HCs), explori...

Clonal gene therapy protocols based on the precise manipulation of epidermal stem cells require highly efficient gene-editing molecular tools. We have combined adeno-associated virus (AAV)-mediated delivery of donor template DNA with transcription activator-like nucleases (TALE) expressed by adenoviral vectors to address the correction of the c.6527insC mutation in the COL7A1 gene, causing rece...

Acquired melanocytic lesions may present unusual clinical features in all forms of hereditary epidermolysis bullosa. These lesions are known as "EB nevi", and often pose a diagnostic challenge for dermatologists given their resemblance - clinically, dermoscopically and histologically - to melanoma. The lesions have been reported in all types of hereditary EB, most of them in childhood. We repor...

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...

BACKGROUND Inherited epidermolysis bullosa (EB) is a group of skin diseases characterized by blistering of the skin and mucous membranes.There are four major types of EB (EB simplex, junctional EB, dystrophic EB and Kindler syndrome) caused by different gene mutations. Dystrophic EB is derived from mutations in the type VII collagen gene (COL7A1), encoding a protein which is the predominant com...