The variant c.274A>G (p.Asn92Asp) in in a patient with pachyonychia congenita and a novel clinical feature of acne inversa.

Introduction: The occurrence of pachyonychia congenita (PC) and acne inversa (AI) may be related to gene mutations. The aim of this study is to identify the genetic cause in a patient with PC and AI, and to explore the possible molecular mechanism of their co-occurrence.

Methods: The clinical data of the proband were collected, and the genomic DNA of the proband and unaffected parents were extracted.