Recent advances in the molecular basis of inherited skin diseases.
Over the last few years the molecular basis of several inherited skin diseases has been delineated. Some discoveries have stemmed from a candidate gene approach using clinical, biochemical, immunohistochemical, and ultrastructural clues, while others have arisen from genetic linkage and positional cloning analyses. Notable advances have included elucidation of specific gene pathology in the major forms of inherited skin fragility, ichthyosis, and keratoderma. These findings have led to a better understanding of the significance of individual structural proteins and regulatory enzymes in keratinocyte adhesion and differentiation. From a clinical perspective, the advances have led to better genetic counseling in many disorders, the development of DNA-based prenatal diagnosis, and a foundation for planning newer forms of treatment, including somatic gene therapy, in selected conditions.
McGrath
J A
JA
Department of Cell and Molecular Pathology, St John's Institute of Dermatology, The Guy's, Kings College and St Thomas' Hospital Medical School, St Thomas' Hospital, London, United Kingdom. john.mcgrath@kcl.ac.uk
Eady
R A
RA
D004817:Epidermis / Q000473:pathology* / Q000502:physiology*; D005817:Genetic Counseling; D006801:Humans; D007150:Immunohistochemistry; D008953:Models, Anatomic; D009154:Mutation; D011296:Prenatal Diagnosis; D014176:Protein Biosynthesis; D012871:Skin Diseases / Q000235:genetics* / Q000628:therapy