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Herpetiform keratitis and palmoplantar hyperkeratosis: warning signs for Richner‐Hanhart syndrome
Author(s) -
Soares Diogo C.,
Stroparo Maria.,
Lian Yu C.,
Takakura Cristina Y.,
Wolf Sabrina,
Betz Regina,
Kim Chong A.
Publication year - 2017
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-016-9996-z
Subject(s) - keratitis , tyrosinemia , photophobia , dermatology , medicine , hyperkeratosis , inborn error of metabolism , pathology , tyrosine , ophthalmology , biology , biochemistry
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.