Tyrosinaemia II.
Four cases of tyrosinaemia type II (Richner-Hanhart syndrome) are reported. This syndrome consists of corneal erosions, palmar and plantar hyperkeratoses, and sometimes mental retardation. Presentation with photophobia and dendritic corneal ulceration or circumscribed palmoplantar keratoderma should alert the physician to the possible diagnosis of tyrosinaemia II. Early diagnosis is important, as the clinical picture can be modified by dietary restriction.
D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000097:blood / Q000178:diet therapy / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008297:Male; D014443:Tyrosine / Q000097:blood*
D014443:Tyrosine