Richner–Hanhart Syndrome Detected by Expanded Newborn Screening
Article first published online: 9 JUN 2008
© 2008 The Authors. Journal compilation © 2008 Blackwell Publishing, Inc.
Volume 25, Issue 3, pages 378–380, May/June 2008
How to Cite
Meissner, T., Betz, R. C., Pasternack, S. M., Eigelshoven, S., Ruzicka, T., Kruse, R., Laitenberger, G. and Mayatepek, E. (2008), Richner–Hanhart Syndrome Detected by Expanded Newborn Screening. Pediatric Dermatology, 25: 378–380. doi: 10.1111/j.1525-1470.2008.00687.x
- Issue published online: 9 JUN 2008
- Article first published online: 9 JUN 2008
Abstract: Richner–Hanhart syndrome (tyrosinemia type 2) is an inborn error of tyrosine metabolism which is clinically characterized mainly by oculocutaneous symptoms including corneal opacities and keratosis palmoplantaris. Skin symptoms usually develop after the first year of life. We report a neonate in whom already on the third day of life diagnosis of Richner–Hanhart syndrome could be suspected because of elevated tyrosine levels in newborn screening by tandem mass spectrometry. Analysis of the tyrosine aminotransferase gene revealed a homozygous missense mutation p.R433W (c.1297C>T). An 8-year-old brother with persistent plantar hyperkeratotic plaques of the soles of yet unknown origin was subsequently identified to be also affected with Richner–Hanhart syndrome. This demonstrates that early diagnosis of Richner–Hanhart syndrome is possible in neonates by extended newborn screening. Early introduction of dietary treatment is a prerequisite to reduce the risk of clinical symptoms.