Translate this page into:
Disfiguring Plexiform Neurofibroma of the Face in a Patient with Neurofibromatosis Type 1
*Corresponding author: Savi Aneja, Department of Dermatology, Venerology and Leprosy, Government Medical College and Hospital, Chandigarh, India. anejasavi@gmail.com
-
Received: ,
Accepted: ,
How to cite this article: Aneja S, Sethi M, Sandhu JK. Disfiguring Plexiform Neurofibroma of the Face in a Patient with Neurofibromatosis Type 1. Indian J Postgrad Dermatol. 2025;3:197-8. doi: 10.25259/IJPGD_109_2025
A 55-year-old man presented with an extensive, sagging, skin-coloured plexiform neurofibroma involving the left periorbital and temporal areas. The lesion caused significant distortion of facial features, drooping of the upper eyelid and complete obstruction of vision in the affected eye. Multiple cutaneous neurofibromas, both discrete and clustered, were observed across the forehead, areas around the mouth, chin, neck and upper chest [Figure 1]. The facial mass contributed to both functional difficulties and psychosocial distress. The presence of several café-au-lait spots along with axillary freckling aligned with the diagnostic criteria for neurofibromatosis type 1 as updated in 2021.[1,2] Although a recognised presentation, the marked disfigurement emphasizes the relevance of emerging treatments such as selumetinib for symptomatic plexiform neurofibromas.

- Large, pendulous, skin-coloured plexiform neurofibroma involving the left periorbital and temporal regions. Multiple discrete and confluent cutaneous neurofibromas are observed over the forehead, perioral region, chin and neck.
Ethical approval:
Institutional Review Board approval is not required.
Declaration of patient consent:
The authors certify that they have obtained all appropriate patient consent.
Conflicts of interest:
There are no conflicts of interest.
Use of artificial intelligence (AI)-assisted technology for manuscript preparation:
The authors confirm that there was no use of artificial intelligence (AI)-assisted technology for assisting in the writing or editing of the manuscript and no images were manipulated using AI.
Financial support and sponsorship: Nil.
References
- Revised Diagnostic Criteria for Neurofibromatosis Type 1 and Legius Syndrome: An International Consensus Recommendation. Genet Med. 2021;23:1506-13.
- [CrossRef] [PubMed] [PubMed Central] [Google Scholar]
- Evaluation of the Impact of the 2021 Revised Neurofibromatosis Type 1 Diagnostic Criteria on Time to Diagnosis. Am J Med Genet A. 2022;188:2284-589.
- [CrossRef] [PubMed] [Google Scholar]