TY - JOUR
T1 - Multiple cutaneous plexiform schwannomas as initial presentation of neurofibromatosis 2 in a 9-year-old
AU - Nguyen, Tien V.
AU - Matthews, Mark R.
AU - Barrera, Fernando F.
AU - Browning, John C.
PY - 2012/7/1
Y1 - 2012/7/1
N2 - Neurofibromatosis 2 (NF2) is an autosomal-dominant disease caused by genetic mutations of the NF2 gene on chromosome 22. Patients are often diagnosed according to the presence of bilateral vestibular schwannomas and other tumors in the brain and spinal cord. In children, NF2 can present early with ocular findings and cutaneous tumors. We report here a 9-year-old girl who presented with multiple pigmented, slightly tender plaques on her scalp, face, and back that were revealed by histopathology to be plexiform schwannomas. We suspected NF2 and sent the patient's blood for genetic testing, which confirmed our diagnosis.
AB - Neurofibromatosis 2 (NF2) is an autosomal-dominant disease caused by genetic mutations of the NF2 gene on chromosome 22. Patients are often diagnosed according to the presence of bilateral vestibular schwannomas and other tumors in the brain and spinal cord. In children, NF2 can present early with ocular findings and cutaneous tumors. We report here a 9-year-old girl who presented with multiple pigmented, slightly tender plaques on her scalp, face, and back that were revealed by histopathology to be plexiform schwannomas. We suspected NF2 and sent the patient's blood for genetic testing, which confirmed our diagnosis.
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U2 - 10.1111/j.1525-1470.2011.01532.x
DO - 10.1111/j.1525-1470.2011.01532.x
M3 - Short survey
C2 - 21906157
AN - SCOPUS:84863456658
VL - 29
SP - 536
EP - 538
JO - Pediatric Dermatology
JF - Pediatric Dermatology
SN - 0736-8046
IS - 4
ER -