OUR UNDERSTANDING of the molecular basis of genetic disorders of skin and mosaic conditions has progressed tremendously in the past 100 years and particularly during the past decade. Approximately 10 years ago, a transgenic mouse model of a genodermatosis was engineered in the Chicago area with a keratin 14 deletion,1 which was noted to resemble that of patients with the Dowling-Meara form of epidermolysis bullosa (EB).2 Through the collaboration of basic scientists, physician-scientists, and clinicians, the underlying basis of most genodermatoses has now been determined. These subsequent discoveries have been based on the mapping of genes to specific chromosomal loci, other transgenic and knockout mouse models, and direct sequencing of genomic DNA from affected patients.
Paller AS. Genetic Disorders of SkinA Decade of Progress. Arch Dermatol. 2003;139(1):74-77. doi:10.1001/archderm.139.1.74