Pigmented Birthmarks and Spinal Neurofibromas in KRAS Mosaicism—Not to Be Confused With NF1
Karina M. Forde, Nicole Knöpfel, Ulrike Loebel, Veronica A. Kinsler
TL;DR
A child with skin birthmarks and spinal tumors was found to have KRAS mosaicism, a condition that can resemble neurofibromatosis.
Contribution
This case expands the clinical spectrum of KRAS mosaicism and emphasizes its distinction from NF1.
Findings
Pigmented skin lesions and spinal neurofibromas can occur in KRAS mosaicism.
KRAS variants can cause congenital skin lesions and spinal nerve root hypertrophy.
KRAS mosaicism should be considered in the differential diagnosis of neurofibromatosis-like presentations.
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.
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Taxonomy
TopicsNeurofibromatosis and Schwannoma Cases · Ocular Oncology and Treatments · Genetic and rare skin diseases.