Get started
Work

Pigmented Birthmarks and Spinal Neurofibromas in KRAS Mosaicism—Not to Be Confused With NF1

Year: 2025
Type: article
Study design: Case Report
Abstract: 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.
DOI: 10.1111/pde.16018
Institutions: Great Ormond Street Hospital, Great Ormond Street Hospital for Children NHS Foundation Trust, Cambridge University Hospitals NHS Foundation Trust, Addenbrooke's Hospital, The Francis Crick Institute, University College London
Language: English
Subfield: Neurology
Field: Medicine
Open Access status: hybrid
Estimated APC paid: $3,920
OpenAlex ID: W4412521234
FWCI: 0.548
Cites: 6
Cited by: 1
Related to: 10