Herpetiform keratitis and palmoplantar hyperkeratosis: warning signs for Richner-Hanhart syndrome
J. inherit. metab. dis
; J. inherit. metab. dis;40(3): 461-462, May 2017. ilus
Article
de En
| SES-SP, SESSP-IIERPROD, SES-SP
| ID: biblio-1022894
Bibliothèque responsable:
BR31.1
Localisation: BR31.1; 2017_P-013
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
Texte intégral:
1
Collection:
06-national
/
BR
Base de données:
SES-SP
/
SESSP-IIERPROD
Sujet principal:
Kératite herpétique
/
Kératose palmoplantaire
/
Tyrosinémies
Type d'étude:
Diagnostic_studies
Limites:
Child, preschool
/
Humans
/
Male
Langue:
En
Journal:
J. inherit. metab. dis
Année:
2017
Type de document:
Article