Dermatopathology and Molecular Genetics

In the 2008 review, the integration of dermatopathology and molecular genetics was shown to have significantly improved the diagnosis and understanding of inherited skin diseases, including epidermolysis bullosa (EB), ectodermal dysplasia/skin fragility syndrome (EDSFS), and congenital alopecias. Immunohistochemistry on paraffin sections was found to be effective in diagnosing EB, with an 85% diagnostic rate in a study of 39 cases. Histopathologic clues were used to identify mutations in genes like KRT5, KRT14, and PKP1. Advances in molecular genetics have also led to more precise classifications of congenital alopecias, with mutations in the CDH3 gene identified as the cause of hypotrichosis with juvenile macular dystrophy (HJMD). Similar clinical and histologic features in alopecias associated with mutations in the vitamin D receptor (VDR) and the hairless gene suggest an interaction between these genes. The review underscores the enhanced role of dermatopathology in diagnosing skin diseases due to molecular genetics.