Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD; OMIM #226670) is an autosomal recessive disorder characterized by neonatal blistering and later-onset muscle weakness.

BACKGROUND Recessive dystrophic epidermolysis bullosa is an incurable, often fatal mucocutaneous blistering disease caused by mutations in COL7A1, the gene encoding type VII collagen (C7). On the basis of preclinical data showing biochemical correction and prolonged survival in col7 −/− mice, we hypothesized that allogeneic marrow contains stem cells capable of ameliorating the manifestations o...

Epidermolysis bullosa is a rare inherited bullous disease with unknown prevalence in most parts of the world. In Saudi Arabia the reported studies regarding epidermolysis bullosa are very limited. This paper presents the first study of epidermolysis bullosa cases from the Western province of Saudi Arabia. We studied 15 cases of inherited epidermolysis bullosa and classified the cases based on e...

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 ...

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...

Epidermolysis bullosa are a group of hereditary skin diseases manifested as blisters on the sites of trauma to the skin. According to the level of blister development, epidermolysis bullosa are divided into the following groups: epidermolysis bullosa simplex, junctional epidermolysis bullosa and dystrophic epidermolysis bullosa. The latter two groups are associated with poorer prognosis and hig...

Plectin is one of the largest and most versatile cytolinker proteins known. Cloned and sequenced in 1991, it was later shown to have nonsense mutations in recessive epidermolysis bullosa with muscular dystrophy. A dominant mutation in the gene was found to cause epidermolysis bullosa simplex Ogna without muscular dystrophy. Here we report the DNA sequencing of the plectin gene (PLEC1) in a Dutc...

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 ...

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 is a group of mechano-bullous genetic disorders caused by mutations in the genes encoding structural proteins of the skin. Dystrophic epidermolysis bullosa is caused by mutations in the COL7A1 gene encoding collagen VII, the main constituent of anchoring fibrils. In this group, there are autosomal dominant and recessive inheritances. The pre-tibial form is characterized by...