Two siblings with tyrosinaemia type 2.

We report on two siblings with tyrosinaemia type 2, a 6-year-old girl and her 3.5-year-old brother with a main complaint of painful palmo-plantar hyperkeratosis. The boy presented also conjunctival injection, photophobia, lacrimation and conjunctivitis. Blood tyrosine levels were increased in both patients, 150.6 and 202.3 micro mol/dl, respectively (reference value: 5.8+/-2.2 micro mol/dl). After 1 month of dietary treatment with low protein, low phenylalanine and tyrosine, tyrosine levels decreased to 37.7 and 65.6 micro mol/dl, respectively; the cutaneous lesions improved in both of them, and conjunctivitis disappeared.

CONCLUSIONS

the association of bilateral ulcero-conjunctivitis with photophobia and palmo-plantar hyperkeratosis since early infancy is the clue to the diagnosis of tyrosinaemia type 2.