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 journalArticle

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

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Tyrosinemias
Tyrosine
Early Diagnosis
Photophobia
Phenylalanine
Intelligence
Intellectual Disability
Urine
Diet
Skin
Serum

ASJC Scopus subject areas

  • Dermatology
  • Pediatrics, Perinatology, and Child Health

Cite this

Richner-Hanhart syndrome (tyrosinemia II) : Early diagnosis of an incomplete presentation with unusual findings. / Viglizzo, Gian Maria; Occella, Corrado; Bleidl, Dario; Rongioletti, Franco.

In: Pediatric Dermatology, Vol. 23, No. 3, 05.2006, p. 259-261.

Research output: Contribution to journalArticle

Viglizzo, Gian Maria ; Occella, Corrado ; Bleidl, Dario ; Rongioletti, Franco. / Richner-Hanhart syndrome (tyrosinemia II) : Early diagnosis of an incomplete presentation with unusual findings. In: Pediatric Dermatology. 2006 ; Vol. 23, No. 3. pp. 259-261.
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