Pigmented Birthmarks and Spinal Neurofibromas in <scp> <i>KRAS</i> </scp> Mosaicism—Not to Be Confused With <scp>NF1</scp>
We report a child presenting with pigmentary skin lesions and spinal neurofibromas who was diagnosed molecularly with KRAS mosaicism. We review the previous literature of two cases of congenital skin lesions and neurofibromas and spinal nerve root hypertrophy caused by KRAS variants and highlight this presentation as an important differential diagnosis for neurofibromatosis.
Authors
- Ulrike Loebel
- Veronica A. Kinsler (ORCID: https://orcid.org/0000-0001-6256-327X)
- Nicole Knöpfel (ORCID: https://orcid.org/0000-0002-6438-6550)
- Karina Forde (ORCID: https://orcid.org/0000-0001-5220-7220)
Institutions
- Great Ormond Street Hospital for Children NHS Foundation Trust (GB)
- The Francis Crick Institute (GB)
- Cambridge University Hospitals NHS Foundation Trust (GB)
- Institute of Child Health (IN)
- Addenbrooke's Hospital (GB)
- University College London (GB)
Publication Details
- Journal
- Pediatric Dermatology
- Published
- 2025-07-19
- DOI
- https://doi.org/10.1111/pde.16018
- Primary Topic
- Neurofibromatosis and Schwannoma Cases
- Type
- article
- Field-Weighted Citation Impact
- 0.00