| Literature DB >> 30983034 |
Melissa Dodds1, Sheilagh Maguiness1.
Abstract
We present a 4-year-old developmentally appropriate boy with short stature and widespread expanding epidermal nevus with features of acanthosis nigricans. He was found to have a mosaic mutation in FGFR3, the R248C variant. Despite several therapies, he continued to have growth, fissuring, and bleeding of the affected skin. Ultimately, topical sirolimus was attempted and found to improve thickness and overall symptoms.Entities:
Keywords: FGFR3; acanthosis nigricans; epidermal nevus; topical sirolimus
Year: 2019 PMID: 30983034 DOI: 10.1111/pde.13833
Source DB: PubMed Journal: Pediatr Dermatol ISSN: 0736-8046 Impact factor: 1.588