Pachyonychia congenita with woolly hair in a ten month old infant

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 included scalp kinky hair and dental caries. Past medical and family history had remarkable findings such as natal teeth and similar skin lesions in her older brother since his infancy. The patients′ clinical presentations and history are compatible with pachyonychia congenita presenting with concomitant features of both subtypes 1 and 2

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