As the body's most accessible organ, skin provides a unique window on physiologic processes governed ultimately by the genome. Cutaneous signs have long been used to diagnose systemic disease, from hypothyroidism to syphilis,1 and many genetic syndromes include pathognomonic skin findings. The field of medical genetics extends the search for patterns beyond individual patients to inheritance within families; statistical genetics and genetic epidemiology use quantitative methods to analyze these patterns in families and populations. Now the tools of molecular genetics are being used to identify thousands of mutations associated with hundreds of mostly rare genetic diseases. In the process, they are revealing unexpected genetic complexity, blurring the distinction between Mendelian and complex disorders.2 New approaches are needed to find meaningful patterns in the outpouring of genomic data; we believe that epidemiology will provide a crucial link between dermatology and the human genome.
Gwinn M, Khoury MJ. Dermatology and the Human Genome: An Epidemiologic Approach. Arch Dermatol. 2007;143(9):1194–1196. doi:10.1001/archderm.143.9.1194
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