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  • Title: [Two cases of Richner-Hanhart syndrome (oculocutaneous tyrosinemia)].
    Author: Bygum A, Brandrup F, Gade EF, Lund AM, Christensen E.
    Journal: Ugeskr Laeger; 2008 Feb 18; 170(8):655. PubMed ID: 18364160.
    Abstract:
    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.
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