Abstract

Pachyonychia congenita is a rare ectodermal dysplasia with dominant inheritance. It is characterized by hyperkeratosis and hyperhidrosis of palms and soles, follicular hyperkeratosis of knees and elbows, thickening of nails, leucoplakia of the oral mucous membranes, and natal teeth. The disease usually becomes evident in early childhood. An 11-year-old girl with hyperhidrosis of palms and soles, nail thickening, and coloboma of the iris is presented. The patient was diagnosed as recessively inherited pachyonychia congenita, we aimed to draw attention to the Iate onset and recessive inheritance pattern of pachyonychia congenita with concomitant coloboma of iris, arachnodactyly and joint hyperlaxity.