Waardenburg syndrome type I with heterochromia iridis and circumscribed hypopigmentation of the skin

Sibylle Eigelshoven; Gitta Kameda; Anne-Katrin Kortüm; Simone Hübsch; Wolfgang Angerstein; Preeti Singh; Renate Vöhringer; Timm Goecke; Ertan Mayatepek; Thomas Ruzicka; Gabriele Wildhardt; Thomas Meissner; Roland Kruse

doi:10.1111/j.1525-1470.2009.01033.x

Waardenburg syndrome type I with heterochromia iridis and circumscribed hypopigmentation of the skin

Pediatr Dermatol. 2009 Nov-Dec;26(6):759-61. doi: 10.1111/j.1525-1470.2009.01033.x.

Authors

Sibylle Eigelshoven¹, Gitta Kameda, Anne-Katrin Kortüm, Simone Hübsch, Wolfgang Angerstein, Preeti Singh, Renate Vöhringer, Timm Goecke, Ertan Mayatepek, Thomas Ruzicka, Gabriele Wildhardt, Thomas Meissner, Roland Kruse

Affiliation

¹ Department of Dermatology, Heinrich-Heine-University, Düsseldorf, Germany. [email protected]

PMID: 20199465
DOI: 10.1111/j.1525-1470.2009.01033.x

Abstract

We report a 3-year-old girl with autosomal dominant inherited Waardenburg syndrome type I showing circumscribed hypopigmentation of the skin, heterochromia iridis, sensorineural deafness, and dental aberrations. Clinical diagnosis was confirmed by the identification of an underlying missense mutation (C811T) in the PAX3 gene. Early diagnosis of Waardenburg syndrome among children with pigment anomalies enables a successful interdisciplinary medical care.

Publication types

Case Reports

MeSH terms

Anodontia / genetics
Anodontia / pathology
Child, Preschool
Female
Hearing Loss, Sensorineural / genetics
Hearing Loss, Sensorineural / pathology
Humans
Hypopigmentation / genetics
Hypopigmentation / pathology*
Iris Diseases / genetics
Iris Diseases / pathology*
Mutation, Missense
PAX3 Transcription Factor
Paired Box Transcription Factors / genetics
Waardenburg Syndrome / genetics
Waardenburg Syndrome / pathology*

Substances

PAX3 Transcription Factor
PAX3 protein, human
Paired Box Transcription Factors