ABSTRACT

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