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Multiple Cutaneous Plexiform Schwannomas as Initial Presentation of Neurofibromatosis 2 in a 9-Year-Old

Authors

  • Tien V. Nguyen B.A.,

    1. Division of Dermatology and Cutaneous Surgery, University of Texas Health Science Center at San Antonio, San Antonio, Texas
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  • Mark R. Matthews M.D.,

    1. Pathology Reference Laboratory, San Antonio, Texas
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  • Fernando F. Barrera B.A.,

    1. Division of Dermatology and Cutaneous Surgery, University of Texas Health Science Center at San Antonio, San Antonio, Texas
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  • John C. Browning M.D.

    1. Division of Dermatology and Cutaneous Surgery, University of Texas Health Science Center at San Antonio, San Antonio, Texas
    2. Division of Dermatology, Department of Pediatrics, University of Texas Health Science Center at San Antonio, San Antonio, Texas
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Address correspondence to John C. Browning, M.D., Division of Dermatology and Department of Pediatrics, University of Texas Health Science Center at San Antonio, 7703 Floyd Curl Drive, MSC 7876, San Antonio, TX 77229, or e-mail: Browningj3@uthsca.edu.

Abstract

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.

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