In the present report, we explore the application of next-generation sequencing approach to quickly identify the causative mutation in a sporadic case of a rare dermatological disease. We suggest that exome sequencing could be an alternative to traditional gene sequencing approach to quickly identify the variations and be able to make an appropriate diagnosis in clinical settings.

Whole-exome sequencing solves diagnostic dilemma in a rare case of sporadic acrokeratosis verruciformis
Journal of the European Academy of Dermatology and Venereology (2015) Accepted