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Arteriovenous Malformation Underlying a Plexiform Neurofibroma: An Unusual Presentation
Zaheer Abbas1, Sepideh Khani2, Javad Zare3
1Paydar Skin, Hair and Laser Clinic, Bandar Abbas, Iran.
Indian Dermatology Online Journal
|April 14, 2017
Summary
Arteriovenous malformation is a rare finding in neurofibromatosis type 1. This case highlights the importance of thorough evaluation of plexiform neurofibromas to detect underlying vascular abnormalities.
Area of Science:
- Medical Genetics
- Vascular Surgery
- Pediatric Oncology
Background:
- Neurofibromatosis type 1 (NF1) is a genetic disorder characterized by various tumors, including neurofibromas.
- Vascular abnormalities are known complications of NF1, but arteriovenous malformations (AVMs) are exceptionally rare.
- Plexiform neurofibromas are common benign tumors in NF1 patients.
Observation:
- An 11-year-old girl presented with a soft flank mass, initially diagnosed as a plexiform neurofibroma.
- The lesion was noted to be warm on palpation, prompting further investigation.
- Imaging studies revealed an underlying arteriovenous malformation associated with the neurofibroma.
Findings:
- This case represents a rare co-occurrence of plexiform neurofibroma and arteriovenous malformation at the same anatomical site in a patient with NF1.
- The vascular nature of the lesion was not apparent until advanced imaging was performed.
- Histological examination confirmed the presence of both plexiform neurofibroma and AVM.
Implications:
- Emphasizes the need for comprehensive evaluation of plexiform neurofibromas in NF1 patients, including assessment for underlying vascular anomalies.
- Highlights the potential for misdiagnosis if vascular components are not considered, especially in lesions with unusual characteristics like warmth.
- Underscores the importance of advanced imaging techniques in the diagnostic workup of complex NF1-associated lesions to prevent complications from unaddressed vascular abnormalities.