Author/Authors :
Al-Ratrout, Jihad T. Qatif Central Hospital - Department of Dermatology, Saudi Arabia , Al-Muzian, Mohammed Qatif Central Hospital - Department of Dermatology, Saudi Arabia , Al-Nazer, Mona Qatif Central Hospital - Department of Pathology, Saudi Arabia , Ansari, Naseem A.
Abstract :
Tyrosinemia type II (Richner-Hanhart syndrome) is a distinctive clinical syndrome involving the eye, skin and central nervous system. It is caused by a deficiency of hepatic tyrosine aminotransferase,resulting in elevated plasma tyrosine concentrations and elevated levels of abnormal metabolites of tyrosine in the urine. We describe the case of a middle-aged Saudi male with painful plantar keratoderma since the age of 16 years. He had certain eye signs and moderate mental retardation. To the authors’ knowledge the patient described represents only the eighth case of tyrosinemia type II from Saudi Arabia. Furthermore, there have been fewer than 100 such cases reported worldwide
