Multiple Cutaneous Plexiform Schwannomas as Initial Presentation of Neurofibromatosis 2 in a 9-Year-Old
| Autor: | John C. Browning, Mark R. Matthews, V B A Tien Nguyen, Fernando F. Barrera |
|---|---|
| Rok vydání: | 2011 |
| Předmět: |
Pathology
medicine.medical_specialty medicine.diagnostic_test business.industry Dermatology Spinal cord medicine.disease medicine.anatomical_structure Scalp Vestibular Schwannomas Pediatrics Perinatology and Child Health otorhinolaryngologic diseases Medicine Histopathology sense organs Presentation (obstetrics) Neurofibromatosis business Chromosome 22 Genetic testing |
| Zdroj: | Pediatric Dermatology. 29:536-538 |
| ISSN: | 0736-8046 |
| DOI: | 10.1111/j.1525-1470.2011.01532.x |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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