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Multiple Cutaneous Plexiform Schwannomas as Initial Presentation of Neurofibromatosis 2 in a 9‐Year‐Old
Author(s) -
Nguyen Tien V.,
Matthews Mark R.,
Barrera Fernando F.,
Browning John C.
Publication year - 2011
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/j.1525-1470.2011.01532.x
Subject(s) - medicine , neurofibromatosis type 2 , histopathology , neurofibromatosis , scalp , pathology , plexiform neurofibroma , dermatology , spinal cord , neurofibroma , psychiatry
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.