Tyrosinaemia type II with diffuse plantar keratoderma and self-mutilation.

Abstract

Tyrosinaemia type II (oculocutaneous tyrosinaemia or Richner-Hanhart syndrome) is a rare and potentially treatable genetic disorder. Corneal opacities or ulcers, circumscribed palmoplantar keratoderma and subnormal intelligence form the classical triad of this syndrome. A case with additional features of self-harm and diffuse plantar keratoderma is discussed. Emphasis is laid on the importance of early diagnosis and intervention in the form of dietary regulation to prevent the neurological signs and treat the oculocutaneous symptoms.