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BMC Medical Genetics

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Open Access 01-12-2011 | Case report

Systemic epidermal nevus with involvement of the oral mucosa due to FGFR3mutation

Authors: Anette Bygum, Christina R Fagerberg, Ole J Clemmensen, Britta Fiebig, Christian Hafner

Published in: BMC Medical Genetics | Issue 1/2011

Abstract

Background

Epidermal nevi (EN) represent benign congenital skin lesions following the lines of Blaschko. They result from genetic mosaicism, and activating FGFR3 and PIK3CA mutations have been implicated.

Case presentation

We report a female patient with a systemic keratinocytic nevus also involving the oral mucosa. Molecular genetic analysis revealed a mosaicism of the FGFR3 hotspot mutation R248C in the EN lesions of the skin and of the oral mucosa. The detection of the R248C mutation in a proportion of blood leukocytes and a slight scoliosis suggest an EN syndrome.

Conclusions

Our results show that activating FGFR3 mutations can also affect the oral mucosa and that extracutaneous manifestations of EN syndrome can be subtle. We highlight the theoretical risk of the patient having an offspring with thanatophoric dysplasia as gonadal mosaicism for the R248C mutation cannot be excluded.

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The pre-publication history for this paper can be accessed here:http://www.biomedcentral.com/1471-2350/12/79/prepub

Title: Systemic epidermal nevus with involvement of the oral mucosa due to FGFR3mutation
Authors: Anette Bygum
Christina R Fagerberg
Ole J Clemmensen
Britta Fiebig
Christian Hafner
Publication date: 01-12-2011
Publisher: BioMed Central
Published in: BMC Medical Genetics / Issue 1/2011
Electronic ISSN: 1471-2350
DOI: https://doi.org/10.1186/1471-2350-12-79

At a glance: The STEP trials

Springer Medicine

Systemic epidermal nevus with involvement of the oral mucosa due to FGFR3mutation

Abstract

Background

Case presentation

Conclusions

At a glance: The STEP trials

Springer Medicine

Abstract

Background

Case presentation

Conclusions

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