PMC9376313_01
Light brown plaques were seen on the chest and abdomen (A), back (B), shoulder (C), and left upper arm (D).
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F1
Systemic examination revealed a light brown plaque with clear boundaries of different sizes scattered on the chest and abdomen, back, shoulder, and left upper arm, not protruding from the skin surface, and with a diameter of 0.3-8.0 cm (Figure 1).
MRI showed multiple abnormal signal foci in bilateral basal ganglia, thalamus, and pons.
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F2
MRI of the head revealed multiple abnormal signal foci in the bilateral basal ganglia, thalamus, and pons (Figure 2).
(A) Pedigree of the family affected with NF1. (B) Sequencing results of the NF1 mutation.
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F3
Q514Rfs*) in the NF1 gene in the proband and his mother (Figure 3). The same mutation was not detected in the proband's father (Figure 3).