Painful keratoderma and photophobia: Hallmarks of tyrosinemia type II

Abstract

Tyrosinemia type II (Richner-Hanhart syndrome), which is caused by a deficiency of hepatic tyrosine aminotransferase, results in elevated plasma and urinary tyrosine concentrations. We describe a young boy who was seen at 6 months of age with red eyes, photophobia, and eye pain that were not suspected to be caused by tyrosinemia II until painful plantar keratoderma developed at 2½ years of age. Treatment with a diet low in tyrosine and phenylalanine reversed the manifestations of the disease. (J P EDIATR 1995;126:266-9)