Epidermolysis Bullosa

Because skin blisters are the initial manifestation of epidermolysis bullosa (EB), patients invariably present to the dermatologist for diagnosis and treatment. However, EB is a systemic disease whose management requires input from clinicians in virtually all fields of medicine, including pediatri cians, surgeons, dentists, gastroenterologists, hematologists, otorhinolaryn gologists, dietitians, and physical therapists, to name a few. Because EB is a rare disease, few clinicians are familiar with it, and many recoil at the pros pect of caring for individuals covered with blisters caused by a disease they know little about. For patients, insult is thus added to injury and they feel abandoned, neglected, and frustrated. One way to remedy this deplorable situation is to provide clinicians with a compact source of information de tailing the principles of EB diagnosis and treatment. This text seeks to fulfill this role. From 1986-1991, The Rockefeller University Hospital has been the co ordinating center of the National EB Registry. Supported by The National Institutes of Health, this Registry consists of four university centers* commit ted to collecting clinical data concerning diagnosis, treatment, and epidemio logy on all American EB patients. As of April 1992, nearly 1,799 EB patients have enrolled nationwide. The Registry is now in its second five-year phase of operation.

InhaltsangabeI: Current Perspectives.- 1 Current Perspectives and Differential Diagnosis in Epidermolysis Bullosa.- II: Basic Science Aspects.- 2 The Basement Membrane Zone at the Dermal-Epidermal Junction of Human Skin.- 3 Pathology and Pathogenesis of Epidermolysis Bullosa.- 4 Collagenase and Connective Tissue Remodeling in Recessive Dystrophic Epidermolysis Bullosa.- 5 Linkage Studies in Epidermolysis Bullosa.- 6 Epidermolysis Bullosa Acquisita (EBA).- III: Clinical Overview.- 7 Epidermolysis Bullosa Simplex: A Clinical Overview.- 8 Junctional Epidermolysis Bullosa: A Clinical Overview.- 9 Recessive Dystrophic Epidermolysis Bullosa: A Clinical Overview.- 10 Dominant Dystrophic Epidermolysis Bullosa: A Clinical Overview.- IV: Extracutaneous Manifestations and Their Management.- 11 Gastrointestinal Aspects of Epidermolysis Bullosa.- 12 Ophthalmological Aspects of Epidermolysis Bullosa.- 13 Hematologic Problems in Epidermolysis Bullosa.- 14 Dental Aspects of Epidermolysis Bullosa.- 15 Otorhinolaryngologic Aspects of Epidermolysis Bullosa.- 16 Rheumatologic Aspects of Epidermolysis Bullosa.- V: Special Management Considerations.- 17 Reconstructive Surgery for Patients with Epidermolysis Bullosa.- 18 Anaesthesia for the Epidermolysis Bullosa Patient.- 19 Prenatal Diagnosis and Genetic Screening for Epidermolysis Bullosa.- 20 Physical Rehabilitation of Epidermolysis Bullosa Patients.- 21 Nutritional Management of the Epidermolysis Bullosa Patient.- 22 Medical and Surgical Treatment of the Skin in Epidermolysis Bullosa.- 23 Nursing Aspects of Epidermolysis Bullosa: A Comprehensive Approach.