[ uncommon presentation of pachyonychia congenital]

ABSTRACT

A 10-month-old female presented with severe progressive wedge-shaped thickening and discoloration of all twenty nails. Further evaluations revealed palmoplantar keratoderma along with recurrent acral blisters causing residual crusted ulcers which were present during the past six months. Other findings include scalp kinky hair and dental caries. Patient history was remarkable for natal teeth and similar skin blisters in her older brother since his infancy. The patient's clinical presentation and history are consistent with pachyonychia congenita syndrome showing concomitant features of both subtypes 1 and 2, probably due to a new mutation in the responsible gene