Epidermolysis Bullosa

Epidermolysis Bullosa

Andrew N. Lin Editors D. Martin Carter Epidermolysis Bullosa Basic and Clinical Aspects With 51 Illustrations Springer-Verlag New York Berlin Heidelberg London Paris Tokyo Hong Kong Barcelona Budapest

Andrew N. Lin, M.D. Laboratory for Investigative Dennatology The Rockefeller University 1230 York A venue New York, NY 1002 1-6399 USA D. Martin Carter, M.D., Ph.D. Laboratory fo r Investigative Dermatology The Rockefeller University 1230 York A..enue New York, NY 10021-6399 USA Library of Congress Cataloging-in-Publication Data Epidermolysis bullosa: basic and clinical aspects {[edited by] Andrew N. Lin, D. Martin Carter. p. cm. Includes bibliojl;rjphical references and index. ISBN -13: 978-1-4612-7717-0 c-isbn-\3: 978-1-4612-2914-8 001: IO.1007/978-t-4612-29t4-8 I. Epidermolysis bullosa. I. Lin. Andrew N. II. Caner, D. Martin (David Martin). 1936- {DNlM: l. Epidermolysis 8ullosa. WR 200 E64] Rl793. E65 [992 616.5- dc20 DNlM{DLC for l ibrary of Congress 92-21 4] Printed on acid-free paper. 10 [992 Springer-Verlag New York. Inc. Softoover reprint of the hardcover 1st Mition 1992 All ri gh ts reserved. This work may not be translated or copied in whole or in part without the written permission of the publisher (Springer-Verlag New York, Inc.. 175 Firt h Avenue, New York. NY 10010. USA). except for brief excerpts in connection with reviews or scholarly analysis. Use in connection with any form of information storage and retrieval. electronic adapt3tion. computer software. or by similar or dissimilar methodology now known or hereafter developed is forbidden. The use of general descriptive names, trade names. trademarks. etc.. in this publication, even if thc former are not especially identified. is not to be taken as a sign that such names. as understood by the Trade Marks and Merchandise Marks Act. may accordingly be used freely by anyone. While Ihe advice and information in this book is believed to be true and accurate at Ihe date of going to press. neither the authors nor the editors nor the publisher can accept any legal responsibility for any errors or omissions that may be made. The publisher makes no warranty. express or im plied, with respect to the material contained herein. Production managed by Ellen Seham; Manufacturing supervised by Robert Paella. Typeset by Asco Trade Typesetting l td.. Hong Kong. 9 8 7 6 5 4 3 2 I

To epidermolysis bullosa patients the world over, and their families, friends, and relatives, who are their real care-givers.

Preface 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 pediatricians, surgeons, dentists, gastroenterologists, hematologists, otorhinolaryngologists, 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 prospect 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 detailing the principles of EB diagnosis and treatment. This text seeks to fulfill this role. From 1986-1991, The Rockefeller University Hospital has been the coordinating center of the National EB Registry. Supported by The National Institutes of Health, this Registry consists of four university centers* committed to collecting clinical data concerning diagnosis, treatment, and epidemiology 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. In this text, scientists actively involved in the forefront of EB research review our current understanding of EB pathology and pathogenesis, and clinicians who have served as Registry consultants in the evaluation and treatment ofeb patients present their experience. We have included a chapter on EB acquisita even though it is a non-heritable disorder believed to be autoimmune in nature. We did this because by its very name EB acquisita is automatically included in the EB family of disorders, and we feel * The Rockefeller University (D.M. Carter, M.D., Ph.D., principal investigator); Stanford University (E.A. Bauer, M.D., principal investigator); University of North Carolina at Chapel Hill (J.-D. Fine, M.D., principal investigator); and University of Washington (V.P. Sybert, M.D., principal investigator).

viii Preface any comprehensive volume on EB should not ignore it but should clarify its relation with heritable forms of EB. We hope this text will serve as a handy reference for scientists seeking to understand EB pathology, and for clinicians faced with practical problems in the daily management of EB patients. We thank Joan Hofmann, David Wesolowski, and Andrea Seelall, members of the secretarial staff of The Laboratory for Investigative Dermatology at The Rockefeller University for their expert assistance in editing the manuscripts. Andrew N. Lin, M.D. D. Martin Carter, M.D., Ph.D.

Contents Preface... Vll Contributors xi I: Current Perspectives Current Perspectives and Differential Diagnosis in Epidermolysis Bullosa... 3 ROBIN A.J. EADY II: Basic Science Aspects 2 The Basement Membrane Zone at the Dermal-Epidermal Junction of Human Skin............................... 19 DAVID T. WOODLEY and SCOTT McNUTT 3 Pathology and Pathogenesis of Epidermolysis Bullosa... 37 JO-DAVID FINE 4 Collagenase and Connective Tissue Remodeling in Recessive Dystrophic Epidermolysis Bullosa... 63 ELKE VOGES, ANNEMARIE KRONBERGER, ROSALIND A. GRYMES, and EUGENE A. BAVER 5 Linkage Studies in Epidermolysis Bullosa... 70 ERVIN H. EpSTEIN, JR. 6 Epidermolysis Bullosa Acquisita (EBA)... 75 DAVID T. WOODLEY, W. RAY GAMMON, and ROBERT A. BRIGGAMAN III: Clinical Overview 7 Epidermolysis Bullosa Simplex: A Clinical Overview ANDREW N. LIN and D. MARTIN CARTER 8 Junctional Epidermolysis Bullosa: A Clinical Overview ANDREW N. LIN and D. MARTIN CARTER 89 118

x Contents 9 Recessive Dystrophic Epidermolysis Bullosa: A Clinical Overview... 135 ROBERT A. BRIGGAMAN 10 Dominant Dystrophic Epidermolysis Bullosa: A Clinical Overview... 152 ANDREW N. LIN and D. MARTIN CARTER IV: Extracutaneous Manifestations and Their Management 11 Gastrointestinal Aspects of Epidermolysis Bullosa... 169 GULCHIN ERGUN and ROBERT A. SCHAEFER 12 Ophthalmological Aspects of Epidermolysis Bullosa SCOTT E. BRODIE 13 Hematologic Problems in Epidermolysis Bullosa PATRICIA J. GIARDINA and ANDREW N. LIN 14 Dental Aspects of Epidermolysis Bullosa... 198 JOHN J. PuTNAM and GEORGE W. SFERRA, JR. 15 Otorhinolaryngologic Aspects of Epidermolysis Bullosa... 210 ANDREW N. LIN, SHELLEY R. BERSON, and ROBERT F. WARD 16 Rheumatologic Aspects of Epidermolysis Bullosa THOMAS J.A. LEHMAN V: Special Management Considerations 17 Reconstructive Surgery for Patients with Epidermolysis Bullosa 223 KENNETH O. ROTHAUS and MICHAEL J. PAGNANI 18 Anaesthesia for the Epidermolysis Bullosa Patient ROBERT E. KELLY 19 Prenatal Diagnosis and Genetic Screening for Epidermolysis Bullosa... 235 VIRGINIA P. SYBERT and KAREN A. HOLBROOK 20 Physical Rehabilitation of Epidermolysis Bullosa Patients... 252 REBECCA L. LIPNICK and BARBARA S. STANERSON 21 Nutritional Management of the Epidermolysis Bullosa Patient 261 DONNA TESI and ANDREW N. LIN 22 Medical and Surgical Treatment of the Skin in Epidermolysis Bullosa... 267 ANDREW N. LIN and D. MARTIN CARTER 23 Nursing Aspects of Epidermolysis Bullosa: A Comprehensive Approach... 281 DOROTHEA CALDWELL-BROWN, SHEILA GIBBONS, and MIGDALIA REID Index... 295 185 191 217 228

Contributors EUGENE A. BAUER, M.D. Professor and Chairman, Department of Dermatology, Stanford University School of Medicine, Stanford, California; Chief of Dermatology, Stanford University Medical Center, Stanford, CA, USA. SHELLEY R. BERSON, M.D. Assistant Attending Surgeon, Manhattan Eye, Ear and Throat Hospital, New York, NY; Good Samaritan Hospital, Suffern, NY, Nyack Hospital, Nyack, NY, USA ROBERT A. BRIGGAMAN, M.D. Professor and Chairman, Department of Dermatology, School of Medicine, The University of North Carolina at Chapel Hill, Chapel Hill, North Carolina; Chief of Dermatology Service, North Carolina Memorial Hospital, Chapel Hill, NC, USA SCOTT BRODIE, M.D. Assistant Professor of Ophthalmology, Mount Sinai School of Medicine, New York, NY; Visiting Associate Physician, The Rockefeller University Hospital, New York, NY, USA DOROTHEA CALDWELL-BROWN, B.S.N., M.P.H. Clinical Coordinator (formerly: Project Coordinator), The National Epidermolysis Bullosa Registry, The Rockefeller University, New York, NY, USA D. MARTIN CARTER, M.D., PH.D. Professor and Senior Physician, The Rockefeller University, New York, NY; Professor of Medicine (Dermatology), Cornell University Medical College; Attending Physician, New York Hospital, New York, NY, USA ROBIN A.J. EADY, M.B., F.R.C.P. Professor of Experimental Dermatopathology and Consultant Dermatologist, St. John's Institute of Dermatology, St. Thomas's Hospital, London SEl 7EH, England ERVIN H. EpSTEIN JR., M.D. Research Dermatologist and Clinical Professor of Dermatology, University of California, San Francisco; San Francisco General Hospital, San Francisco, CA, USA

XII Contributors GULCHIN ERGUN, M.D. Assistant Professor of Medicine, Northwestern University Medical School, Chicago, Illinois; Attending Physician, Northwestern Memorial Hospital, VA Lakeside Medical Center, Chicago, IL, USA lo-david FINE, M.D. Associate Professor of Dermatology, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina; Attending Dermatologist, North Carolina Memorial Hospital, Chapel Hill, NC, USA W. RAy GAMMON, M.D. Professor of Dermatology, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina; Attending Dermatologist, North Carolina Memorial Hospital, Chapel Hill, NC, USA PATRICIA l. GIARDINA, M.D. Associate Professor of Clinical Pediatrics, Cornell University Medical College; Associate Attending Pediatrician, New York Hospital, New York, NY, USA SHEILA GIBBONS, L.V.N. Nurse Administrator, Department of Dermatology, Stanford University School of Medicine, Stanford, CA, USA ROSALIND A. GRYMES, PH.D. Research Scientist, Life Science Division, NASA-Ames Research Center, Moffett Field, CA, USA KAREN A. HOLBROOK, PH.D. Associate Dean for Scientific Affairs, Professor of Biological Structure, Adjunct Professor of Medicine (Medicine), University of Washington School of Medicine, Seattle, W A, USA ROBERT E. KELLY, M.D. Assistant Professor of Anesthesiology, Cornell University Medical College, New York, NY; Assistant Attending Anesthesiologist, The New York Hospital, New York, NY, USA ANNEMARIE KRONBERGER, PH.D. Senior Research Associate, Department of Dermatology, Stanford University School of Medicine, Stanford, CA, USA THOMAS l.a. LEHMAN, M.D. Associate Professor of Pediatrics, Cornell University Medical College; Chief, Division of Pediatric Rheumatology, Hospital for Special Surgery, New York, NY, USA ANDREW N. LIN, M.D. Assistant Professor and Associate Physician, The Rockefeller University, New York, NY; Adjunct Assistant Professor of Medicine (Dermatology), Cornell University Medical College, New York, NY, USA

Contributors xiii REBECCA L. LIPNICK, B.S., O.T.R. Coordinator of Occupational Therapy, Therapy Services Department, St. Louis Children's Hospital, St. Louis, MO, USA N. SCOTT McNuTT, M.D. Professor of Pathology, Cornell University Medical College, New York, NY; Attending Pathologist and Chief, Dermatopathology Division, New York Hospital, New York, NY, USA MICHAEL J. PAGNANI, M.D. Resident Physician (Orthopedic Surgery), Hospital for Special Surgery, New York, NY, USA JOHN J. PuTNAM, D.D.S. Clinical Associate Professor of Surgery (Dentistry), Cornell University Medical College, New York, NY; Attending Dentist and Director of General Dentistry, New York Hospital, New York, NY, USA MIGDALIA REID, B.S.N., M.P.H. Clinical Coordinator, The National Epidermolysis Bullosa Registry, The Rockefeller University, New York, NY,USA KENNETH 0. ROTHAus, M.D. Clinical Assistant Professor of Surgery, Cornell University Medical College, New York, NY; Assistant Attending Surgeon, New York Hospital and Hospital for Special Surgery, New York, NY; Visiting Associate Physician, The Rockefeller University Hospital, New York, NY, USA ROBERT A. SCHAEFER, M.D. Clinical Associate Professor of Medicine, Cornell University Medical College, New York, NY; Associate Attending Physician, New York Hospital, New York, NY, USA GEORGE W. SFERRA, JR, D.D.S. Clinical Instructor of Surgery, Cornell University Medical College, New York, NY; Assistant Attending Dentist (Periodontist), New York Hospital, New York, NY, USA BARBARA S. STANERSON, B.S., P.T. Child Development Center, St. John's Mercy Hospital, St. Louis, MO, USA VIRGINIA P. SYBERT, M.D. Associate Professor of Pediatrics (Medical Genetics), Adjunct Associate Professor of Medicine (Dermatology), University of Washington School of Medicine, Children's Hospital and Medical Center, Seattle, WA, USA DONNA TESI, R.D. Medical Student, State University of New York/Health Science Center of Brooklyn, New York, NY. F ormedy: Research Dietitian, The Rockefeller University Hospital, New York, NY, USA

xiv Contributors ELKE VOGES, M.D. Research Fellow, Department of Dermatology, Stanford University School of Medicine, Stanford, CA, USA ROBERT F. WARD, M.D. Assistant Professor of Otorhinolaryngology, Cornell University Medical College; Assistant Attending Otorhinolaryngologist, New York Hospital, New York, NY, USA DAVID T. WOODLEY, M.D. Professor and Associate Chairman, Department of Dermatology, Stanford University School of Medicine, Stanford, California; Attending Dermatologist, Stanford University Medical Center, Stanford, CA, USA