Familial tyrosinaemia with eye and skin lesions. Presentation of two cases.
Two cases of tyrosinaemia with eye and skin lesions typical of the Richner-Hanhart syndrome are described. The patients are a 29- and 26-year-old brother and sister. They do not show neurological abnormalities or mental retardation. Parents are not consanguineous and family history is negative for similar conditions. The diagnosis of type II tyrosinaemia was based upon an increase of blood tyrosine (14-16mg/100 ml), tyrosinuria and absence of liver and kidney abnormalities. The treatment with a low tyrosine phenylalanine diet has resulted in a disappearence of the ocular manifestations while the cutaneous lesions are much improved.
D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000178:diet therapy / Q000235:genetics*; D002675:Child, Preschool; D003316:Corneal Diseases / Q000178:diet therapy / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D007645:Keratoderma, Palmoplantar / Q000178:diet therapy / Q000235:genetics*; D008297:Male; D013577:Syndrome; D014443:Tyrosine / Q000097:blood*; D014444:Tyrosine Transaminase
D014443:Tyrosine; D014444:Tyrosine Transaminase