Bygum, Anette and Fagerberg, Christina R. and Clemmensen, Ole J. and Fiebig, Britta and Hafner, Christian (2011) Systemic epidermal nevus with involvement of the oral mucosa due to FGFR3 mutation. BMC MEDICAL GENETICS, 12: 79. ISSN 1471-2350,
Full text not available from this repository. (Request a copy)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.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | GROWTH-FACTOR RECEPTOR-3; CANCER-SPECIFIC MUTATIONS; ACTIVATING MUTATIONS; THANATOPHORIC DYSPLASIA; SEBORRHEIC KERATOSES; CELL CARCINOMA; HUMAN SKIN; MOSAICISM; DISTINCT; BLADDER; |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Humangenetik |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 09 Jun 2020 07:19 |
| Last Modified: | 09 Jun 2020 07:19 |
| URI: | https://pred.uni-regensburg.de/id/eprint/20675 |
Actions (login required)
 |
View Item |
