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A Lesson Learned in Managing Traumatic Cervical Neurofibromatosis Type 1
Sharifah Fatimah Syahirah Syed Afandi1, Rohaida Ibrahim2, Mohd Razif Mohamad Yunus3
1Department of Otolaryngology-Head and Neck Surgery, Faculty of Medicine, Universiti Kebangsaan Malaysia, Kuala Lumpur, MYS.
Cureus
|April 15, 2025
Summary
Neurofibromatosis type 1 (NF-1), a rare genetic disorder, can manifest in the head and neck. This case highlights a 30-year-old woman diagnosed with NF-1 presenting with neck swelling.
Area of Science:
- Neurology
- Genetics
- Dermatology
Background:
- Neurofibromatosis type 1 (NF-1), also known as von Recklinghausen disease, is an autosomal dominant disorder.
- NF-1 affects the skin and nervous system, with the head and neck being potential sites of involvement.
- Neurofibromas in this region typically occur in soft tissues.
Observation:
- A 30-year-old woman presented with right neck swelling following trauma.
- She had a history of numerous café-au-lait spots on her thorax, neck, and face.
- The patient's presentation included characteristic cutaneous manifestations of NF-1.
Findings:
- Diagnosis of NF-1 was confirmed using radiographic findings and National Institutes of Health (NIH) criteria.
- The case illustrates NF-1 diagnosis in adulthood based on clinical presentation and established criteria.
- Radiographic imaging played a crucial role in identifying the extent of the condition.
Implications:
- This case underscores the importance of considering NF-1 in patients with unexplained neck swelling and café-au-lait spots.
- Early diagnosis and conservative management are key for patients with NF-1.
- Understanding the diverse manifestations of NF-1 is crucial for effective patient care and management.
