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Systemic epidermal nevus with involvement of the oral mucosa due to FGFR3 mutation
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 involvi...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2011
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3119182/ https://www.ncbi.nlm.nih.gov/pubmed/21639936 http://dx.doi.org/10.1186/1471-2350-12-79 |
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author | Bygum, Anette Fagerberg, Christina R Clemmensen, Ole J Fiebig, Britta Hafner, Christian |
author_facet | Bygum, Anette Fagerberg, Christina R Clemmensen, Ole J Fiebig, Britta Hafner, Christian |
author_sort | Bygum, Anette |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-3119182 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2011 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-31191822011-06-22 Systemic epidermal nevus with involvement of the oral mucosa due to FGFR3 mutation Bygum, Anette Fagerberg, Christina R Clemmensen, Ole J Fiebig, Britta Hafner, Christian BMC Med Genet Case Report 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. BioMed Central 2011-06-05 /pmc/articles/PMC3119182/ /pubmed/21639936 http://dx.doi.org/10.1186/1471-2350-12-79 Text en Copyright ©2011 Bygum et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report Bygum, Anette Fagerberg, Christina R Clemmensen, Ole J Fiebig, Britta Hafner, Christian Systemic epidermal nevus with involvement of the oral mucosa due to FGFR3 mutation |
title | Systemic epidermal nevus with involvement of the oral mucosa due to FGFR3 mutation |
title_full | Systemic epidermal nevus with involvement of the oral mucosa due to FGFR3 mutation |
title_fullStr | Systemic epidermal nevus with involvement of the oral mucosa due to FGFR3 mutation |
title_full_unstemmed | Systemic epidermal nevus with involvement of the oral mucosa due to FGFR3 mutation |
title_short | Systemic epidermal nevus with involvement of the oral mucosa due to FGFR3 mutation |
title_sort | systemic epidermal nevus with involvement of the oral mucosa due to fgfr3 mutation |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3119182/ https://www.ncbi.nlm.nih.gov/pubmed/21639936 http://dx.doi.org/10.1186/1471-2350-12-79 |
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