Abstract
Richner-Hanhart syndrome (RHS, tyrosinemia type II) is a rare, autosomal recessive inborn error of tyrosine metabolism caused by tyrosine aminotransferase deficiency. It is characterized by photophobia due to keratitis, painful palmoplantar hyperkeratosis, variable mental retardation, and elevated serum tyrosine levels. Patients are often misdiagnosed with herpes simplex keratitis. We report on a a boy from Brazil who presented with bilateral keratitis secondary to RHS, which had earlier been misdiagnosed as herpes simplex keratitis.
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The authors have no financial disclosures relevant to this article. RB was a recipient of a Heisenberg Professorship of the German Research Foundation (DFG).
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All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000. Informed consent was obtained from the patient’s mother for being included in the study.
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Communicated by: Ivo Barić
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Soares, D.C., Stroparo, M.N., Lian, Y.C. et al. Herpetiform keratitis and palmoplantar hyperkeratosis: warning signs for Richner-Hanhart syndrome. J Inherit Metab Dis 40, 461–462 (2017). https://doi.org/10.1007/s10545-016-9996-z
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DOI: https://doi.org/10.1007/s10545-016-9996-z