Back issues No.2 - 2011 / Resident Forum  

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Nodules on the trunk and the arm of an 8-year-old boy
Yi-An Chen , Hung-Chien Lin , Sheau-Chiou Chao

An 8-year-old boy presented with three painless nodules on the
abdomen, back, and left arm for the duration of 1 year (Figure 1).
The skin examination showed three 10 mm 6 mm skin-colored,
well-circumscribed, dome-shaped nodules on the abdomen, lower
back, and left antecubital fossa. The patient had strabismus and left
ptosis for 2 years, and maculopathy was noted for 1 month. He had
no hearing loss or tinnitus. Tracing back his medical history, he had
relative attention deficit, poor memory, lethargy, and coordination
disorder, especially in fine movement for 3 years. There was no
family history. Skin biopsy was done over abdomen (Figure 1A).
Microscopic finding showed multiple encapsulated cellular
nodules consisting of spindle cell with Verocay bodies, and plexiform
schwannoma was impressed. Meanwhile, gene analysis was
performed. A heterozygous nonsense mutation (1219C>T, Q407X)
was detected in Exon 12 by direct DNA sequencing (Figure 2A).
The father and mother showed normal sequence (Figure 2B).

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