Molecular genetics in pediatric dermatology

The field of pediatric dermatology continues to be enriched by the insights offered through molecular genetics. For some genetic skin disorders, inclu ding neurofibromatosis, tuberous sclerosis complex, and several forms of ep idermolysis bullosa, genetic research has resulted in an evolving understan ding of the relationship between genotype and phenotype, with the ability t o predict some of the features of these disorders on the basis of the genet ic defect, However, widespread use of molecular genetics for diagnostic tes ting of these disorders has not been possible because of genetic heterogene ity, limited availability, and reduced sensitivity, The appropriate use of genetic services is emphasized in this, the molecular era, Curr Opin Pediat r 2000, 12:347-353 (C) 2000 Lippincott Williams & Wilkins, Inc.