ABSTRACT
Oculocutaneous tyrosinemia was first described in 1967 by Campbell, Buist and Jacinto[1] in a report of a patient with corneal ulcers, erythematous papular lesions on the palms and soles, and severe retardation of mental development. A number of patients has since been reported, and it is clear that mental retardation is not a uniform feature of the disease [2-8]. Patients were described in 1938 by Richner [9] and in 1947 by Hanhart [10] with typical lesions of the eyes and skin, and this came to be known as the Richner-Hanhart syndrome, or keratosis palmaris et plantaris; it appears likely that oculocutaneous tyrosinemia and the Richner-Hanhart syndrome are the same disease, although plasma concentrations of tyrosine are not available for the original patients of Richner and Hanhart. Among the disorders in which elevated concentrations of tyrosine have been reported, this disorder appears to be a true hypertyrosinemia or tyrosine intoxication in the sense that the clinical manifestations are a consequence of the elevated levels of tyrosine. It has been referred to as tyrosinemia type II.
