Neurofibromatosis Type 1: Clinical and Imaging Perspectives From a Pediatric Case
Neurofibromatosis (NF) is a common disorder that affects the nerves and skin. There are two main types: neurofibromatosis Type 1 (NF-1) (also called von Recklinghausen’s disease) and neurofibromatosis Type 2 (NF-2) (previously known as bilateral acoustic NF or central NF). NF-1 makes up approximatel...
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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2025-01-01
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| Series: | Case Reports in Radiology |
| Online Access: | http://dx.doi.org/10.1155/crra/9912392 |
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| Summary: | Neurofibromatosis (NF) is a common disorder that affects the nerves and skin. There are two main types: neurofibromatosis Type 1 (NF-1) (also called von Recklinghausen’s disease) and neurofibromatosis Type 2 (NF-2) (previously known as bilateral acoustic NF or central NF). NF-1 makes up approximately 85% of cases, with a prevalence of 1 in 5000 in the general population. In 30%–50% of NF-1 cases, there is no family history, suggesting that these cases likely result from germ cell mutations, often from the father. Here, we present the case of a 7-year-old boy with skin and radiological features of NF-1. NF-1 is the most common neurocutaneous syndrome, requiring long-term monitoring for related complications. In this case, we aimed to highlight the typical clinical and radiological features of NF-1 in a child. |
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| ISSN: | 2090-6870 |