[Two cases of Richner-Hanhart syndrome (oculocutaneous tyrosinemia)].
Richner-Hanhart syndrome or oculocutaneous tyrosinemia is characterized by painful palmo-plantar keratoderma, keratitis with photophobia and progressive mental impairment. The syndrome is caused by deficient hepatic tyrosine aminotransferase and is inherited as an autosomal recessive trait. We report a 28 year-old woman with lifelong photophobia, eye pain and painful plantar hyperkeratotic lesions, necessitating use of a wheelchair. A few days after instituting tyrosine lowering therapy, her eye symptoms disappeared and she could walk without pain. Her brother was later diagnosed with the same disease.
Bygum
Anette
A
Dermato-venerologisk Afdeling I, Odense Universitetshospital, DK-5000 Odense C. anette.bygum@ouh.regionsyddanmark.dk.
Brandrup
Flemming
F
Gade
Else Fredsted
EF
Lund
Allan Meldgaard
AM
Christensen
Ernst
E
D000328:Adult; D005260:Female; D006801:Humans; D007634:Keratitis / Q000150:complications / Q000188:drug therapy / Q000209:etiology*; D007645:Keratoderma, Palmoplantar / Q000188:drug therapy / Q000209:etiology*; D008297:Male; D020795:Photophobia / Q000209:etiology; D013577:Syndrome; D020176:Tyrosinemias / Q000150:complications*