From the Division of General and Thoracic Pediatric Surgery, Division of Pediatric Dermatology, and the Epidermolysis Bullosa Center, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, Great Ormond Street Hospital for Children, London, UK, St John’s Institute of Dermatology, Guy’s and St Thomas’ NHS Foundation Trust, London, UK, Departments of Hand Surgery and Dentistry, Clínica A...

Epidermolysis bullosa is a genetically transmitted skin disorder that typically manifests with trauma-induced skin blistering, scarring and in some cases mucosal involvement. Esophageal webs, strictures or stenosis can be found in about a third of the patients with the recessive dystrophic type of this disease. We report a six-year-old girl with recessive dystrophic epidermolysis bullosa and pr...

OBJECTIVE To describe a nonconventional diagnostic technique used to diagnose a case of cicatrizing conjunctivitis associated with epidermolysis bullosa acquisita. METHODS Direct immunofluorescence of a biopsy specimen of the patient's conjunctiva was performed using fluorescein-conjugated rabbit antihuman antibodies against IgA, IgG, and IgM; complement C3; and fibrinogen. Immunoblot assay u...

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...

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...

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...

Epidermolysis bullosa (EB) is a group of hereditary chronic disorders, characterized by fragility of the skin and mucous membranes in response to minor mechanical trauma. The objective of this study was to report the case of a young girl diagnosed with epidermolysis bullosa simplex (EBS), transmitted by an autosomal dominant gene. Cutaneous findings included blisters and dystrophy following min...

BACKGROUND Several new targeted genes and clinical subtypes have been identified since publication in 2008 of the report of the last international consensus meeting on diagnosis and classification of epidermolysis bullosa (EB). As a correlate, new clinical manifestations have been seen in several subtypes previously described. OBJECTIVE We sought to arrive at an updated consensus on the class...

BACKGROUND Epidermolysis bullosa is a group of diseases caused by mutations in genes for proteins responsible for cells' anchorage at the dermo-epidermal junction. Their common feature are dysfunctional or even absent connections between cells. The typical clinical sign is the formation of blisters, with possible excessive scarring, in response to minimal skin irritation. End stage renal diseas...