In recent years, there has been tremendous progress in elucidating the molecular bases of
genodermatoses. The interface between genetics and dermatology has broadened with the
identification of “new” heritable disorders, improved recognition of phenotypic spectrums,
and integration of molecular and clinical data to simplify disease categorization and
highlight relationships between conditions. With the advent of next-generation sequencing
and other technological advances, dermatologists have promising new tools for diagnosis
of genodermatoses. This article first addresses phenotypic characterization and classification
with the use of online databases, considering concepts of clinical and genetic heterogeneity.
Indications for genetic testing related to medical care and patient/family decision
making are discussed. Standard genetic testing is reviewed, including resources for finding
specialized laboratories, methods of gene analysis, and patient/family counseling. The
benefits and challenges associated with multigene panels, array-based analysis (eg, copy
number variation, linkage, and homozygosity), and whole-exome or whole-genome sequencing
are then examined. Specific issues relating to molecular analysis of mosaic skin
conditions and prenatal/preimplantation diagnosis are also presented. Use of the modern
molecular diagnostics described herein enhance our ability to counsel, monitor, and treat
patients and families affected by genodermatoses, with broader benefits of providing
insights into cutaneous physiology and multifactorial skin disorders.
Semin Cutan Med Surg 31:211-220 © 2012 Frontline Medical Communications