Herpetiform keratitis and palmoplantar hyperkeratosis: warning signs for Richner-Hanhart syndrome.
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.
Clinical Genetics Unit, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, Av. Dr. Eneas Carvalho de Aguiar, 647, São Paulo, 05403-000, SP, Brasil. diogo.soares@hc.fm.usp.br.
Diogo C
DC
Soares
Instituto de Infectologia Emílio Ribas, São Paulo, SP, Brasil.
Mariana N
MN
Stroparo
Instituto de Infectologia Emílio Ribas, São Paulo, SP, Brasil.
Yu C
YC
Lian
Nutrition Unit, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brasil.
Cristina Y
CY
Takakura
Institute of Human Genetics, University of Bonn, Bonn, Germany.
Sabrina
S
Wolf
Institute of Human Genetics, University of Bonn, Bonn, Germany.
Regina
R
Betz
Clinical Genetics Unit, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, Av. Dr. Eneas Carvalho de Aguiar, 647, São Paulo, 05403-000, SP, Brasil.
Chong A
CA
Kim
D001938:Brazil; D002675:Child, Preschool; D006801:Humans; D007634:Keratitis / Q000175:diagnosis*; D007645:Keratoderma, Palmoplantar / Q000175:diagnosis*; D008297:Male; D020176:Tyrosinemias / Q000175:diagnosis*