Case Report

Additional dry eye and hair-eyebrow-eyelash tortuosity findings in pachyonychia congenita disorder

10.5455/gulhane.23278

  • Rıza Güngör
  • Mutlu Çayırlı

Received Date: 18.07.2012 Accepted Date: 31.08.2012 Gulhane Med J 2013;55(4):328-331

Pachyonychia congenita is a group of keratinizing disorders caused by a mutation in one of 4 keratin genes (KRT6A, KRT6B, KRT16, or KRT17). The variable clinical findings affect a number of ectodermal structures, including nails, skin, teeth, and oral mucosa. Furthermore, corneal dysceratosis and cataract have been defined as ocular findings and hair anomalies as well. Here we report a case who had dry eye and hair-eyebrow-eyelash tortuosity that accompanying to the classical findings of pachyonychia congenita disorder.

Keywords: Pachyonychia congenita, dry eye, hair-eyebrow-eyelash tortuosity