Genodermatoses are quite frequent in developing countries where consanguinity is common but usually under reported and undiagnosed. Main reason being lack of accessibility to tertiary health care facilities for people rural areas as evident case below. Genetic counselling pre natal testing utmost importance affected families. Epidermolysis bullosa pruriginosa (EBP) a rare less recognized varian...

We have previously identified a novel 105-kDa lower lamina lucida protein detected by the autoantibodies from a group of patients who developed a unique immune-mediated subepidermal bullous dermatosis. We sought to determine if this novel basement membrane zone (BMZ) protein is normally expressed in the skin of patients with various subsets of epidermolysis bullosa (EB). Indirect immunofluoresc...

Epidermolysis bullosa (EB) is a clinically diverse group of conditions characterized by skin fragility and, in certain types, marked dental involvement. The purpose of this study was to determine the prevalence of dental caries in EB and control populations. Healthy individuals and participants from the Southern Clinical Center of the National EB Registry were examined with artificial light and...

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...

INTRODUCTION Skin fragility and recurrent wounds are hallmarks of hereditary epidermolysis bullosa (EB). Treatment options to accelerate wound healing are urgently needed. Oleogel-S10 contains a betulin-rich triterpene extract from birch bark. In this study, we tested the wound healing properties of topical Oleogel-S10 in patients with dystrophic EB. METHODS We conducted an open, blindly eval...

A painstaking effort spanning eight years is described in the new book on epidermolysis bullosa by Tobias Gedde-Dahl. The author carefully identified all individuals with this disease in Norway and described in great detail the clinical features of each case. The study is a combined clinical and genetic analysis of 53 probands and 96 of 104 living secondary cases. Of the 46 families, there are ...

epidermolysis bullosa (eb) is a group of rare inherited skin and mucous membrane disorders in which blister formation may arise spontaneously or following a minor friction. various patterns of inheritance are explicated for the disease. the disease has a profound effect on oral mucosa and may result in high prevalence of dental caries. general anesthesia is sometimes the only choice for dental ...

how to cite this article: saeed m, haq a, qadir kh.bart’s syndrome associated corpus callosum agenesis and choanal atresia. iran j child neurol. 2014 autumn;8(4): 76-79. abstract objective bart’s syndrome is defined as congenital localized absence of skin, and associated with epidermolysis bullosa. a newborn with bart’s syndrome is reported because it is a very rare condition, especially when a...

Epidermolysis bullosa (EB) is a progressive familial disorder composed of dermal mucosal blisters, flexion contractures and pseudosyndactylies. Flexion contractures and pseudosyndactyly can be treated with surgery but usually require skin grafting. Because of poor wound healing, skin graft harvesting is a challenge in these patients. In order to prevent donor-site morbidities due to skin graft ...

Dear Editors, Dominant dystrophic epidermolysis bullosa (DDEB) is a rare inherited blistering disorder resulting from mutations in the COL7A1 gene. This gene encodes type VII collagen, a major component of anchoring fibrils, at the dermal–epidermal junction. Its clinical features include recurrent blisters that primarily occur on the extremities as well as nail dystrophy. Here, we report a case...