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August 1994

From Bedside to Bench and BackThe Diagnosis and Biology of Bullous Diseases

Author Affiliations

From the Dermatology Branch, National Cancer Institute, National Institutes of Health, Bethesda, Md.

Arch Dermatol. 1994;130(8):983-987. doi:10.1001/archderm.1994.01690080049005

The history of dermatology is replete with examples where astute physicians have made key observations that have led to the recognition of distinct diseases and syndromes. While clinicians may be either lumpers or splitters, their unifying theme has been that of identifying common elements among patients to assist in their diagnosis, classification, and treatment. Light microscopy, electron microscopy, immunopathologic techniques, and molecular biology have provided dermatologists additional data to assist in their analysis of incompletely understood and poorly classified skin diseases. Application of these techniques over the past 40 years to patients with bullous diseases has led to the development of many new concepts including the following: (1) patients with bullous diseases have autoantibodies that target disease-specific antigens that represent important structural components of normal human skin; (2) autoantibodies from patients with certain bullous diseases are pathogenic in experimental animal models; and (3) some of the same structural proteins targeted by autoantibodies in patients with acquired autoimmune bullous diseases are mutated in patients with inherited bullous diseases. An overview of these concepts is the subject of this brief review.