Richner-Hanhart syndrome (tyrosinemia II): Early diagnosis of an incomplete presentation with unusual findings

Gian Maria Viglizzo, Corrado Occella, Dario Bleidl, Franco Rongioletti

Research output: Contribution to journalArticlepeer-review

Abstract

We report a 2-year-old girl with an incomplete form of Richner-Hanhart syndrome (tyrosinemia II) whose presenting sign was the appearance of vesicles on the fingertips. In a few months these lesions evolved into typical hyperkeratotic plaques also involving the palms and soles. Photophobia and frequent tearing were observed but there was no intelligence impairment. Serum and urine tyrosine levels confirmed the diagnosis. A low tyrosine and phenylalanine diet permitted good control of the disease with a complete resolution of the oculo-cutaneous symptoms in a month. We emphasize the importance of an early diagnosis of this syndrome to avoid the risk of mental retardation.

Original languageEnglish
Pages (from-to)259-261
Number of pages3
JournalPediatric Dermatology
Volume23
Issue number3
DOIs
Publication statusPublished - May 2006

ASJC Scopus subject areas

  • Dermatology
  • Pediatrics, Perinatology, and Child Health

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