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- Title
Multiple Cutaneous Plexiform Schwannomas as Initial Presentation of Neurofibromatosis 2 in a 9-Year-Old.
- Authors
Nguyen, Tien V.; Matthews, Mark R.; Barrera, Fernando F.; Browning, John C.
- Abstract
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.
- Subjects
NEUROFIBROMATOSIS; SKIN diseases; GENETIC mutation; SKIN tumors; HISTOPATHOLOGY
- Publication
Pediatric Dermatology, 2012, Vol 29, Issue 4, p536
- ISSN
0736-8046
- Publication type
Article
- DOI
10.1111/j.1525-1470.2011.01532.x