J Am Acad Dermatol 2021 Jun 9. Epub 2021 Jun 9.
Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University Philadelphia, PA; Jefferson Center for Heritable Connective Tissue and Skin Diseases, Thomas Jefferson University Hospital, Philadelphia, PA.
Over 1,000 heritable disorders have cutaneous manifestations, some of them being syndromic in association with extracutaneous manifestations, while others being limited to the skin. The genetic basis of many of these conditions has been deciphered, and mutation analysis by next-generation sequencing approaches, including whole-exome sequencing, whole-genome sequencing, and whole-transcriptome analysis, are now increasingly part of the diagnostic process. Besides confirming the diagnosis, information on the specific mutations can be used for sub-classification with prognostication and identification of carriers leading to accurate genetic counseling, and it also forms the basis for prenatal testing and preimplantation genetic diagnosis. Read More