Solitary intraoral pyogenic granuloma in neurofibromatosis type 1: diagnostic conundrum

Neurofibromatosis Type 1 (NF1) is a genetic disorder characterised by benign tumours and cutaneous lesions, including neurofibromas. This case report describes a boy in his early 10s with NF1 who presented with an oral swelling initially suspected to be a neurofibroma. However, histopathological analysis revealed the lesion to be a solitary pyogenic granuloma. The patient's clinical presentation included multiple café-au-lait spots and neurofibromas, consistent with NF1. MRI of jaws suggested a non-infiltrative benign mass, and excisional biopsy confirmed the diagnosis of pyogenic granuloma, with negative S100 staining excluding neurofibroma. This case report presents a pyogenic granuloma in an NF1 patient and emphasises the importance of differentiating these lesions from neurofibromas. Accurate diagnosis is crucial for appropriate management and follow-up, given the potential for neurofibromas to undergo malignant transformation. Regular monitoring and multidisciplinary care are recommended.

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Publication Details

Journal
BMJ Case Reports
Published
2025-07-01
DOI
https://doi.org/10.1136/bcr-2024-263415
Primary Topic
Neurofibromatosis and Schwannoma Cases
Type
article
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article

Solitary intraoral pyogenic granuloma in neurofibromatosis type 1: diagnostic conundrum

Hariram Sankar, Lata Goyal, Gargi Kapatia, Yeshwanth Perambudhuru
BMJ Case Reports
Neurofibromatosis and Schwannoma Cases
article

Solitary intraoral pyogenic granuloma in neurofibromatosis type 1: diagnostic conundrum

Hariram Sankar, Lata Goyal, Gargi Kapatia, Yeshwanth Perambudhuru
article en

Abstract

Neurofibromatosis Type 1 (NF1) is a genetic disorder characterised by benign tumours and cutaneous lesions, including neurofibromas. This case report describes a boy in his early 10s with NF1 who presented with an oral swelling initially suspected to be a neurofibroma. However, histopathological analysis revealed the lesion to be a solitary pyogenic granuloma. The patient's clinical presentation included multiple café-au-lait spots and neurofibromas, consistent with NF1. MRI of jaws suggested a non-infiltrative benign mass, and excisional biopsy confirmed the diagnosis of pyogenic granuloma, with negative S100 staining excluding neurofibroma. This case report presents a pyogenic granuloma in an NF1 patient and emphasises the importance of differentiating these lesions from neurofibromas. Accurate diagnosis is crucial for appropriate management and follow-up, given the potential for neurofibromas to undergo malignant transformation. Regular monitoring and multidisciplinary care are recommended.

BMJ Case ReportsVol. 18(7)
All India Institute of Medical Sciences (IN)
Good health and well-being
Openalex Percentile: Top 75%
Neurofibromatosis and Schwannoma Cases
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