Genodermatoses and Molecular Dermatology: From Gene Discovery to Therapeutic Translation

This chapter provides a comprehensive review of the genetic basis, clinical spectrum, and recent advances in the molecular diagnosis of inherited skin disorders, encompassing ichthyoses, epidermolysis bullosa, ectodermal dysplasias, and neurocutaneous syndromes. It highlights how next-generation sequencing technologies have accelerated gene discovery and genotype-phenotype correlation in rare genodermatoses, enabling precise molecular classification. The chapter further discusses the emerging therapeutic landscape, including antisense oligonucleotide therapy, CRISPR-based gene editing, and protein replacement strategies currently in preclinical and early clinical development.