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Molecular Genetics of Heritable Blistering Disorders
Jouni Uitto, MD, PhD;
Leena Pulkkinen, PhD
Arch Dermatol. 2001;137:1458-1461.
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INTRODUCTION
Over the past decade, there has been tremendous progress in understanding the genetic basis of different forms of genodermatoses. Specifically, with the advent of technologies in molecular biology in general, an increasingly large number of gene defects have been identified in different genodermatoses, and mutations are now known to occur in more than 100 distinct genes in such a manner that the genetic lesions explain the spectrum of phenotypic manifestations encountered in these diseases.1
THE PARADIGM OF EPIDERMOLYSIS BULLOSA
An example of genodermatoses in which spectacular success has been recently made is epidermolysis bullosa (EB), a heterogeneous group of mechanobullous disorders characterized primarily by blistering and erosions of the skin.2 In addition to the unifying diagnostic feature of skin fragility, a variety of extracutaneous manifestations can be encountered in different variants of EB; these include corneal erosions, enamel hypoplasia, scarring alopecia, erosions in the tracheal epithelium, development of . . . [Full Text of this Article] The Complexity of the Cutaneous BMZ Molecular Genetics of EB Genotype/Phenotype Correlations
CLINICAL IMPLICATIONS OF BASIC RESEARCH ON HERITABLE BLISTERING DISORDERS
Refined Classification With Prognostic Implications Improved Genetic Counseling Prenatal Testing and Preimplantation Genetic Diagnosis Prospects of Gene Therapy
From the Departments of Dermatology and Cutaneous Biology, and Biochemistry and Molecular Pharmacology, Jefferson Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pa.
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