Familial Tyrosinaemia with Eye and Skin Lesions

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Abstract
Two cases of tyrosinemia with eye and skin lesions typical of the Richner-Hanhart syndrome are described. The patients are a 29 and 26-yr old brother and sister. They did not show neurological abnormalities or mental retardation. Parents are not consanguineous and family history was negative for similar conditions. The diagnosis of type II tyrosinemia was based on an increase of blood tyrosine (14-16 mg/100 ml), tyrosinuria and absence of liver and kidney abnormalities. The treatment with a low tyrosine phenylalanine diet resulted in a disappearence of the ocular manifestations while the cutaneous lesions were much improved.

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