Plectin Gene Mutations Can Cause Epidermolysis Bullosa with Pyloric Atresia

Case of Epidermolysis Bullosa with Pyloric Atresia

Epidermolysis bullosa (EB) is a rare hereditary disorder characterized by formation of blisters following minor trauma. It has been traditionally categorized by the level of basement membrane zone separation into EB simplex (EBS), junctional EB (JEB), and dystrophic EB (DEB). Recently, hemidesmosomal EB has been proposed as a fourth category, which includes EB with muscular dystrophy and EB wit...

Congenital pyloric atresia and epidermolysis bullosa.

Plectin Deficiency Leads to Both Muscular Dystrophy and Pyloric Atresia in Epidermolysis Bullosa Simplex

Plectin is a cytoskeletal linker protein which has a long central rod and N- and C-terminal globular domains. Mutations in the gene encoding plectin (PLEC) cause two distinct autosomal recessive subtypes of epidermolysis bullosa: EB simplex (EBS) with muscular dystrophy (EBS-MD), and EBS with pyloric atresia (EBS-PA). Previous studies have demonstrated that loss of full-length plectin with resi...

Prenatal diagnosis of junctional epidermolysis bullosa associated with pyloric atresia.

Prenatal diagnosis of junctional epidermolysis bullosa associated with pyloric atresia was carried out in a couple at risk. Their two previous children had died during the first months of life of the same disorder despite surgery for the pyloric abnormality. Ultrastructural study of fetal skin biopsies obtained at 18 weeks' gestation showed dermal-epidermal separation at the lamina lucida level...

Epidermolysis Bullosa associated with pyloric stenosis: A case report

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...