Linkage of the anonymous marker D3S2 at 3p21 has been shown in three British families with dominant dystrophic epidermolysis bullosa with a combined lod score of 6.75 at theta = 0. This locus is close to the collagen type VII locus implying that abnormalities of this gene cause dominant dystrophic epidermolysis bullosa.

Epidermolysis bullosa is an inherited skin disease that leads to an array of medical problems. Patients are susceptible to blistering and scar formation following even minor trauma. These patients may present with scarring, limiting the range of motion of their temporal mandibular joint. This case report describes a 15-year-old patient with epidermolysis bullosa presenting for contracture relea...

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...

Junctional epidermolysis bullosa (JEB) is an autosomal recessive skin blistering disease with both lethal and nonlethal forms, with most patients shown to have defects in laminin-5. We analyzed the location of mutations, gene expression levels, and protein chain assembly of the laminin-5 heterotrimer in six JEB patients to determine how the type of genetic lesion influences the pathophysiology ...

Epidermolysis Bullosa is a genetic disorder that affects mainly the skin, however, all others systems are influenced. The nutritional care of children and adolescents with Epidermolysis Bullosa is a key treatment strategy, since the energy needs are increased due to the disease's metabolism, burdening the immune system and cicatrization process, symptoms caused by the disease hinder the intake ...

EBS: epidermolysis bullosa simplex INTRODUCTION Botulinum toxin has been used to treat plantar blistering and pain in 7 epidermolysis bullosa simplex patients, includingone child,with excellent but transient success (Table I). Most of these patients were treated with abobotulinumtoxinA, including the indexed pediatric patient. We recently investigated the use of onabotulinumtoxinA to treat epid...

RDEB is a rare bullous genodermatosis caused by mutations in COL7A1. Clinical features range from severe wounds to esophageal strictures and anemia. Prior work has identified associations of biallelic COL7A1 premature termination codon (PTC) with more disease, likely absent or severely truncated type VII collagen (C7), but genotype-phenotype for other including splice site (SP) missense (MS) re...