title: Multiple cutaneous plexiform schwannomas as initial presentation of neurofibromatosis 2 in a 9-year-old.
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.
authors: Division of Dermatology and Cutaneous Surgery, University of Texas Health Science Center at San Antonio, San Antonio, Texas 77229, USA.
authors: Tien V
authors: TV
authors: Nguyen
authors: Mark R
authors: MR
authors: Matthews
authors: Fernando F
authors: FF
authors: Barrera
authors: John C
authors: JC
authors: Browning
mesh_terms: D001706:Biopsy; D002648:Child; D005153:Facial Neoplasms / Q000235:genetics / Q000473:pathology*; D005260:Female; D006801:Humans; D009442:Neurilemmoma / Q000235:genetics / Q000473:pathology*; D016518:Neurofibromatosis 2 / Q000235:genetics / Q000473:pathology*; D025581:Neurofibromin 2 / Q000235:genetics; D017410:Practice Guidelines as Topic; D012878:Skin Neoplasms / Q000235:genetics / Q000473:pathology*
chemical_list: D025581:Neurofibromin 2