Table 1 Results of genetic analysis
From: Systemic epidermal nevus with involvement of the oral mucosa due to FGFR3mutation
Sample | Localization | FGFR3 | PIK3CA |
|---|---|---|---|
1 EN | Trunk | R248C | wt |
2 EN | Trunk | R248C | wt |
3 Adjacent normal skin | Trunk | wt | wt |
4 Cultured fibroblasts (EN tissue) | Trunk | wt | wt |
5 Cultured fibroblasts (normal skin) | Trunk | wt | wt |
6 Hair roots | Scalp | wt | na |
7 Intraoral EN | Buccal mucosa | R248C | na |
8 Urothelial cells | Urine sediment | wt | na |
9 Leukocytes | Blood | R248C/wt | wt |