[Incurable keratitis and chronic palmoplantar hyperkeratosis with hypertyrosinemia. Cure using a tyrosine-restricted diet. Type II tyrosinemia].
One should henceforth systematically search for hypertyrosinemia which, too often, goes unrecognized for years, in patients presenting chronic keratitis associated with palmar and plantar hyperkeratosis. As a matter of fact, this highly crippling disease may be cured with an appropriate diet and the diagnosis, once suspected, is easily confirmed by simple investigations.
D000293:Adolescent; D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000178:diet therapy; D005260:Female; D006801:Humans; D007223:Infant; D007634:Keratitis / Q000097:blood* / Q000175:diagnosis / Q000178:diet therapy; D007645:Keratoderma, Palmoplantar / Q000097:blood* / Q000175:diagnosis / Q000178:diet therapy; D013997:Time Factors; D014443:Tyrosine / Q000008:administration & dosage / Q000097:blood*
D014443:Tyrosine
Kératite "inguérissable" et hyperkératose palmo-plantaire chronique avec hypertyrosinémie. Guérison par un régime pauvre en tyrosine. Tyrosinémie de type II.