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...

BACKGROUND Squamous cell carcinomas and renal failure were reported the causes of death in patients with recessive dystrophic epidermolysis bullosa (RDEB). Death from colonic disease in epidermolysis bullosa (EB) is never reported. CASE PRESENTATION We demonstrate a male patient with RDEB. He suffered megacolon due to fecal impaction and died from sigmoid colon perforation with peritonitis at...

Epidermolysis bullosa is a group of hereditary diseases affecting 1 in 17,000 live births worldwide. It consists of blistering of the skin and mucous membranes in response to minimal trauma. The disorder seriously affects the patient's quality of life. Diagnosis is based on immunofluorescence mapping and electron microscopy. Treatment is symptomatic, although new cellular and molecular therapie...

Peter D. Witt, MD; Daniel T. Cohen, BA; Susan B. Mallory, MD; from the Departments of Surgery, Plastic and Reconstructive (Drs Witt and Mr Cohen), Internal Medicine (Dermatology) (Dr Mallory), and Pediatrics (Dr Mallory), Washington University School of Medicine, St Louis Children’s Hospital, and the Department of Plastic and Reconstructive Surgery, Shriners Hospital for Children (Dr Witt), St ...

In dystrophic epidermolysis bullosa the genetic defect of anchoring fibrils leads to cleavage beneath the basement membrane, with its consequent loss. We performed scanning electron microscopy of an inverted blister roof of a case of dystrophic epidermolysis bullosa, confirmed by immunomapping and gene sequencing. With a magnification of 2000 times a net attached to the blister roof could be ea...

BACKGROUND The notion of the individual burden associated with a disease has been introduced to determine 'disability' in the broadest sense: psychological, social, economic and physical. Subtypes of epidermolysis bullosa (EB) are rare, life-threatening, untreatable chronic genodermatoses. OBJECTIVES To develop and validate a specific questionnaire assessing the burden on families of children...

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...