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A Journal on Dermatology and Sexually Transmitted Diseases

Official Journal of the Italian Society of Dermatology and Sexually Transmitted Diseases
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Giornale Italiano di Dermatologia e Venereologia 2000 June;135(3):295-305

language: English

Molecular diagnostics of heritable skin diseases

Uitto J., Pulkkinen L.

From the Departments of Dermatology and Cutaneous Biology, and Biochemistry and Molecular Pharmacology Jefferson Medical College and the Jefferson Institute of Molecular Medicine Thomas Jefferson University, Philadelphia PA, USA


Genodermatoses, a diverse group of conditions with a wide spectrum of clinical manifestations, often pose a clinical dilemma for practicing dermatologists. In the past, the molecular bases for many of these conditions have remained unknown, thus precluding DNA-based confirmation of the diagnosis. During the past few years, however, an increasing number of candidate genes have been identified, and specific pathogenic mutations in such genes have been disclosed in a number of clinical conditions. This overview highlights the progress made in understanding the molecular bases of genodermatoses. This progress is exemplified by epidermolysis bullosa (EB), a group of heritable blistering disorders. As of today, mutations in ten different genes expressed in the cutaneous basement membrane zone have been identified in different variants of EB. The types and combinations of mutations and their positions along the mutated genes explain the phenotypic variability and the mode of inheritance in different variants of this group of genodermatoses. It is clear that identification of specific mutations has major implications for accurate diagnosis and genetic counseling of families with heritable skin diseases in general and EB in particular. The advances of the basic research on heritable skin diseases emphasize the potential of molecular genetics for improved diagnostics and patient care of genetic skin diseases.

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