Tyrosinemia type II: a challenge for ophthalmologists and dermatologists.
Tyrosinemia type II was suspected in a 13-month-old child with recurrent photophobia, tearing, and hyperkeratotic lesions on the palms and soles. Laboratory tests revealed high tyrosine levels in blood and urine. All the symptoms promptly improved after the institution of a low tyrosine diet. We emphasize the importance of an early diagnosis in order to avoid the risk of mental retardation in these patients.
Benoldi
D
D
Dermatology Institute, Parma University, Italy.
Orsoni
J B
JB
Allegra
F
F
D003315:Cornea / Q000473:pathology*; D004035:Diet Therapy; D004817:Epidermis / Q000648:ultrastructure; D005121:Extremities / Q000473:pathology*; D006801:Humans; D007223:Infant; D007645:Keratoderma, Palmoplantar / Q000175:diagnosis* / Q000473:pathology* / Q000628:therapy; D008297:Male; D014443:Tyrosine / Q000097:blood / Q000652:urine
D014443:Tyrosine