Epidermolysis Bullosa: Clinical, Epidemiologic, and Laboratory Advances, and the Findings of the National Epidermolysis Bullosa Registry

Front Cover
Jo-David Fine
Johns Hopkins University Press, 1999 - Medical - 490 pages
Inherited epidermolysis bullosa (EB) is a group of rare genetic diseases in which the skin is mechanically very fragile, resulting in chronic blister formation. In the most severe cases, affected persons may also experience disease involvement of other organs, cancer, and even premature death. In this book, a distinguished group of medical authorities presents the first comprehensive examination of EB employing a large, well-characterized research study population and using the latest epidemiological and biostatistical research principles. Unique to this work is its assessment of more than two thousand patients with EB, the largest such sample likely ever to be assembled in the world. In addition to state-of-the-art reviews on basic science aspects of this disease, the book contains all of the significant original data generated on behalf of the National EB Registry Project during its first ten years of existence (1986-95); none of these data have been previously published in another peer-reviewed forum. Also included are detailed tables that will prove of value to clinicians and scientists alike as they diagnose, study, or treat individuals or groups with inherited EB. Among the topics discussed are molecular and cell biology, epidemiology, diagnosis, classification, medical and surgical treatments, and clinical outcomes. The book will be of particular interest to dermatologists, neonatologists, pediatricians, medical geneticists, internists, oncologists, and scientists who are directly involved in the evaluation or study of EB. Although EB is a relatively rare disease, its ability to affect nearly every organ system (in severe cases) makes it of potential interest to a wide variety of medical specialists.

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Contents

Nonmolecular Diagnostic Testing of Inherited
48
Cutaneous and SkinAssociated Musculoskeletal
114
Extracutaneous Manifestations of Inherited Epidermolysis
147
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