Introduction

Overview

Organization

Scope

Moving Forward

PART I: THE ESSENTIALS

Chapter 1. The Essentials on Epidermolysis Bullosa: Guidelines

Overview

What Are Common Heritable Connective Tissue Disorders?

What Is Connective Tissue?

How Do People Get Gene Alterations?

Who Gets HDCTs?

How Does Genetic Counseling Help?

What Are the Symptoms of a HDCT?

How Do Doctors Diagnose HDCTs?

What Are the Specifics of Epidermolysis Bullosa?

What Treatments Are Available?

What Research Is Being Done on HDCTs?

Where Can I Find More Information About HDCTs?

More Guideline Sources

Vocabulary Builder

Chapter 2. Seeking Guidance

Overview

Associations and Epidermolysis Bullosa

Finding More Associations

Finding Doctors

Selecting Your Doctor

Working with Your Doctor

Broader Health-Related Resources

Vocabulary Builder

Chapter 3. Clinical Trials and Epidermolysis Bullosa

Overview

Recent Trials on Epidermolysis Bullosa

Benefits and Risks

Keeping Current on Clinical Trials

General References

Vocabulary Builder

PART II: ADDITIONAL RESOURCES AND ADVANCED MATERIAL

Chapter 4. Studies on Epidermolysis Bullosa

Overview

The Combined Health Information Database

Federally-Funded Research on Epidermolysis Bullosa

E-Journals: PubMed Central

The National Library of Medicine: PubMed

Vocabulary Builder

Chapter 5. Books on Epidermolysis Bullosa

Overview

Book Summaries: Federal Agencies

Book Summaries: Online Booksellers

The National Library of Medicine Book Index

Chapters on Epidermolysis Bullosa

General Home References

Vocabulary Builder

Chapter 6. Periodicals and News on Epidermolysis Bullosa

Overview

News Services & Press Releases

Newsletter Articles

Academic Periodicals covering Epidermolysis Bullosa

Vocabulary Builder

Chapter 7. Physician Guidelines and Databases

Overview

NIH Guidelines

NIH Databases

Other Commercial Databases

The Genome Project and Epidermolysis Bullosa

Specialized References

Chapter 8. Dissertations on Epidermolysis Bullosa

Overview

Dissertations on Epidermolysis Bullosa

Keeping Current

PART III. APPENDICES

Appendix A. Researching Your Medications

Overview

Your Medications: The Basics

Learning More about Your Medications

Commercial Databases

Contraindications and Interactions (Hidden Dangers)

A Final Warning

General References

Vocabulary Builder

Appendix B. Researching Alternative Medicine

Overview

What Is CAM?

What Are the Domains of Alternative Medicine?

Can Alternatives Affect My Treatment?

Finding CAM References on Epidermolysis Bullosa

Additional Web Resources

General References

Vocabulary Builder

Appendix C. Researching Nutrition

Overview

Food and Nutrition: General Principles

Finding Studies on Epidermolysis Bullosa

Federal Resources on Nutrition

Additional Web Resources

Vocabulary Builder

Appendix D. Finding Medical Libraries

Overview

Preparation

Finding a Local Medical Library

Medical Libraries Open to the Public

Appendix E. Your Rights and Insurance

Overview

Your Rights as a Patient

Patient Responsibilities

Choosing an Insurance Plan

Medicare and Medicaid

NORD’s Medication Assistance Programs

Additional Resources

ONLINE GLOSSARIES

Online Dictionary Directories

EPIDERMOLYSIS BULLOSA GLOSSARY

General Dictionaries and Glossaries

INDEX

Overview

Dr. C. Everett Koop, former U.S. Surgeon General, once said, “The best prescription is knowledge.” The Agency for Healthcare Research and Quality (AHRQ) of the National Institutes of Health (NIH) echoes this view and recommends that every patient incorporate education into the treatment process. According to the AHRQ:

Finding out more about your condition is a good place to start. By contacting groups that support your condition, visiting your local library, and searching on the Internet, you can find good information to help guide your treatment decisions. Some information may be hard to find—especially if you don't know where to look.

As the AHRQ mentions, finding the right information is not an obvious task. Though many physicians and public officials had thought that the emergence of the Internet would do much to assist patients in obtaining reliable information, in March 2001 the National Institutes of Health issued the following warning:

The number of Web sites offering health-related resources grows every day. Many sites provide valuable information, while others may have information that is unreliable or misleading.

Since the late 1990s, physicians have seen a general increase in patient Internet usage rates. Patients frequently enter their doctor's offices with printed Web pages of home remedies in the guise of latest medical research. This scenario is so common that doctors often spend more time dispelling misleading information than guiding patients through sound therapies. The Official Patient’s Sourcebook on Epidermolysis Bullosa has been created for patients who have decided to make education and research an integral part of the treatment process. The pages that follow will tell you where and how to look for information covering virtually all topics related to epidermolysis bullosa, from the essentials to the most advanced areas of research.

The title of this book includes the word “official.” This reflects the fact that the sourcebook draws from public, academic, government, and peer-reviewed research. Selected readings from various agencies are reproduced to give you some of the latest official information available to date on epidermolysis bullosa.

Given patients’ increasing sophistication in using the Internet, abundant references to reliable Internet-based resources are provided throughout this sourcebook. Where possible, guidance is provided on how to obtain free-of-charge, primary research results as well as more detailed information via the Internet. E-book and electronic versions of this sourcebook are fully interactive with each of the Internet sites mentioned (clicking on a hyperlink automatically opens your browser to the site indicated). Hard copy users of this sourcebook can type cited Web addresses directly into their browsers to obtain access to the corresponding sites. Since we are working with ICON Health Publications, hard copy Sourcebooks are frequently updated and printed on demand to ensure that the information provided is current.

In addition to extensive references accessible via the Internet, every chapter presents a “Vocabulary Builder.” Many health guides offer glossaries of technical or uncommon terms in an appendix. In editing this sourcebook, we have decided to place a smaller glossary within each chapter that covers terms used in that chapter. Given the technical nature of some chapters, you may need to revisit many sections. Building one’s vocabulary of medical terms in such a gradual manner has been shown to improve the learning process.

We must emphasize that no sourcebook on epidermolysis bullosa should affirm that a specific diagnostic procedure or treatment discussed in a research study, patent, or doctoral dissertation is “correct” or your best option. This sourcebook is no exception. Each patient is unique. Deciding on appropriate options is always up to the patient in consultation with their physician and healthcare providers.

Organization

This sourcebook is organized into three parts. Part I explores basic techniques to researching epidermolysis bullosa (e.g. finding guidelines on diagnosis, treatments, and prognosis), followed by a number of topics, including information on how to get in touch with organizations, associations, or other patient networks dedicated to epidermolysis bullosa. It also gives you sources of information that can help you find a doctor in your local area specializing in treating epidermolysis bullosa. Collectively, the material presented in Part I is a complete primer on basic research topics for patients with epidermolysis bullosa.

Part II moves on to advanced research dedicated to epidermolysis bullosa. Part II is intended for those willing to invest many hours of hard work and study. It is here that we direct you to the latest scientific and applied research on epidermolysis bullosa. When possible, contact names, links via the Internet, and summaries are provided. It is in Part II where the vocabulary process becomes important as authors publishing advanced research frequently use highly specialized language. In general, every attempt is made to recommend “free-to-use” options.

Part III provides appendices of useful background reading for all patients with epidermolysis bullosa or related disorders. The appendices are dedicated to more pragmatic issues faced by many patients with epidermolysis bullosa. Accessing materials via medical libraries may be the only option for some readers, so a guide is provided for finding local medical libraries which are open to the public. Part III, therefore, focuses on advice that goes beyond the biological and scientific issues facing patients with epidermolysis bullosa.

Scope

While this sourcebook covers epidermolysis bullosa, your doctor, research publications, and specialists may refer to your condition using a variety of terms. Therefore, you should understand that epidermolysis bullosa is often considered a synonym or a condition closely related to the following:

• Acantholysis Bullosa


• Acanthosis Bullosa


• Bullosa Hereditaria


• Dominant and Recessive Epidermolysis Bullosa


• Dowling-meara Syndrome


• Epidermolysis Bullosa Acquisita


• Epidermolysis Bullosa Hereditaria


• Epidermolysis Bullosa Letalias


• Epidermolysis Bullosa Letalis


• Epidermolysis Bullosa Simplex


• Epidermolysis Hereditaria Tarda


• Goldscheider's Disease


• Hallopeau-siemens Disease


• Heinrichsbauer Syndrome


• Herlitz Syndrome


• Hyperplastic Epidermolysis Bullosa


• Keratolysis


• Kobner's Disease


• Localized Epidermolysis Bullosa


• Polydysplastic Epidermolysis Bullosa


• Simplex Epidermolysis Bullosa


• Weber-cockayne Disease


• Weber-cockayne Syndrome

In addition to synonyms and related conditions, physicians may refer to epidermolysis bullosa using certain coding systems. The International Classification of Diseases, 9th Revision, Clinical Modification (ICD-9-CM) is the most commonly used system of classification for the world's illnesses. Your physician may use this coding system as an administrative or tracking tool. The following classification is commonly used for epidermolysis bullosa:

• 757 congenital anomalies of the integument


• 757.39 other epidermolysis bullosa

For the purposes of this sourcebook, we have attempted to be as inclusive as possible, looking for official information for all of the synonyms relevant to epidermolysis bullosa. You may find it useful to refer to synonyms when accessing databases or interacting with healthcare professionals and medical librarians.

Moving Forward

Since the 1980s, the world has seen a proliferation of healthcare guides covering most illnesses. Some are written by patients or their family members. These generally take a layperson's approach to understanding and coping with an illness or disorder. They can be uplifting, encouraging, and highly supportive. Other guides are authored by physicians or other healthcare providers who have a more clinical outlook. Each of these two styles of guide has its purpose and can be quite useful.

As editors, we have chosen a third route. We have chosen to expose you to as many sources of official and peer-reviewed information as practical, for the purpose of educating you about basic and advanced knowledge as recognized by medical science today. You can think of this sourcebook as your personal Internet age reference librarian.

Why “Internet age”? All too often, patients diagnosed with epidermolysis bullosa will log on to the Internet, type words into a search engine, and receive several Web site listings which are mostly irrelevant or redundant. These patients are left to wonder where the relevant information is, and how to obtain it. Since only the smallest fraction of information dealing with epidermolysis bullosa is even indexed in search engines, a non-systematic approach often leads to frustration and disappointment. With this sourcebook, we hope to direct you to the information you need that you would not likely find using popular Web directories. Beyond Web listings, in many cases we will reproduce brief summaries or abstracts of available reference materials. These abstracts often contain distilled information on topics of discussion.

While we focus on the more scientific aspects of epidermolysis bullosa, there is, of course, the emotional side to consider. Later in the sourcebook, we provide a chapter dedicated to helping you find peer groups and associations that can provide additional support beyond research produced by medical science. We hope that the choices we have made give you the most options available in moving forward. In this way, we wish you the best in your efforts to incorporate this educational approach into your treatment plan.

The Editors