The identification of genes whose mutations underlie hereditary diseases has long been a holy grail and one whose satisfaction very recently has become a reality for a surprisingly large number of dermatologic diseases.
This review summarizes in brief the chromosomal localization and, where known, the gene identification for diseases expressed primarily in the skin. These vary from skin cancer genes whose products control cell growth and carry out DNA repair to skin fragility genes whose products impart mechanical stability to the skin.
The explosion of new data in the past several years summarized herein is nearly unprecedented and bodes well for the development of new therapeutic approaches to common as well as rare skin disorders.(Arch Dermatol. 1993;129:1417-1423)VICTOR A. McKusick, MD, published a series of review articles from 1986 through 1988, entitled "The Morbid Anatomy of the Human Genome."1-4 By this title, he indicated that