Images in Medicine
Massive Facial Plexiform Neurofibroma: An Unusual Presentation
Correspondence Address :
Dr. Jasleen Kaur,
Junior Resident, Department of Otorhinolaryngology and Head and Neck, Datta Meghe Institute of Higher Education and Research, Wardha-442107, Maharashtra, India.
E-mail: jasleenkakkad@gmail.com
A 45-year-old male patient presented to the department with the chief complaint of overhanging folds of loose skin over the nose and left eye, and various round swellings on the face and throughout the body. The swelling had appeared 15-20 years ago and had gradually worsened over time. The patient reported suffering socially because of his condition. There was no relevant personal or family history, and he had no history of any co-morbidities. On examination, the swellings were of variable size, soft to firm, and non tender, located on the face and body. A colossal lesion originated from the left frontal region, with an overhanging skin mass concealing the left eye, nose, and maxillary area of his face, creating a disfiguring appearance (Table/Fig 1)a. However, upon elevation of the mass, the eye and nose were revealed to be perfectly normal, with unimpaired visual acuity, although the visual field was hampered (Table/Fig 1)b. A similar massive swelling was noted on the lateral aspect of the forehead (Table/Fig 1)c. The loose folds presented a staggering facial plexiform soft-tissue lesion, which is a hallmark of Neurofibromatosis Type 1 (NF1). Further examination unveiled the classic cutaneous manifestations of NF1, including café-au-lait macules, axillary freckling, and a multitude of cutaneous neurofibromas of varying sizes (Table/Fig 1)d, with the largest measuring an astonishing 3×3 cm.
The clinical diagnosis was Neurofibromatosis (NF) which was confirmed histopathologically. The patient was scheduled for excision, but they were not willing to undergo surgical intervention. The complications were explained to the patient and their relatives, but the patient refused the procedure.
Plexiform Neurofibromas (NF) are potentially devastating manifestations of Von Recklinghausen’s NF1. They are benign tumours that originate from nerve sheath cells or subcutaneous peripheral nerves and can involve multiple fascicles, occurring anywhere along the nerve, including the face, orbit, and globe. These tumours frequently involve the cranial and upper cervical nerves (1). Histologically, plexiform NF contain all elements of peripheral nerves and are characterised by an increase in the endoneural matrix, which leads to the separation of nerve fascicles and proliferation of Schwann cells (2),(3). Cutaneous manifestations of NF1 are among the imperative diagnostic criteria, along with café-au-lait spots, freckles, and neurofibromas (4).
Dogra BB and Rana KS presented two cases of facial NF treated at their hospital. The first patient, a female, had an overhanging mass of skin folds on the right side of her face, completely covering her right eye. The second patient, a young male, had a large, unsightly swelling on his right cheek that was pulling down his right eyelids and pinna. Both patients exhibited café-au-lait macules, axillary freckling, and multiple NF on their trunks. They underwent reconstructive surgery, which involved subtotal excision of the tumour mass and re-draping of the facial skin. Six months postsurgery, there was evidence of tumour regrowth in both cases (5).
Fadda MT et al., studied rare primary neurogenic tumours of the facial nerve, which are typically found intratemporally, with few cases involving the intracranial and intraparotid regions (6). They reported on a 10-year-old with NF1, who had a slowly growing cheek swelling diagnosed as a plexiform NF at age three. The patient had multiple nodular lesions without facial nerve impairment. A superficial parotidectomy was performed, preserving the facial nerve. Postoperatively, significant swelling was noted, and ultrasonography at three months showed recurrence. Plexiform NF, seen in up to 15% of NF1 patients, carry a risk of malignant transformation. Surgery is the only effective treatment, but it has a high recurrence rate due to the tumours’ infiltrative nature. Recurrence rates are higher in patients operated on before age 10; therefore, it is advisable to delay surgery for asymptomatic paediatric patients to minimise physical and psychological impact (7).
The differential diagnosis considered included schwannoma, lipoma, haemangioma, Proteus Syndrome (PS), and Bannayan-Riley-Ruvalcaba syndrome. Schwannoma was ruled out based on the appearance of the lesions, as in schwannomas, the Schwann cells grow as a mass that pushes the nerve aside and may compress it. NF, on the other hand, often comprise a heterogeneous collection of blood cells, connective tissue cells, and other cell types from the nerve sheath that surrounds the nerve without displacing it. Lipomas appear as lumps, while haemangiomas are usually located in the skin and subcutaneous tissues. Bannayan-Riley-Ruvalcaba syndrome was ruled out due to the absence of macrocephaly (large head size). PS was excluded as a diagnosis because there were no malignancies or pulmonary conditions present, which are generally associated with this condition (8).
The patient presented here exhibits a highly characteristic example of NF1, which is of significant interest due to the pronounced distortion of their facial features. In such cases, a thorough examination of the patient is necessary because of the potential for widespread involvement of underlying anatomical areas.
Axillary freckles, Café-au-lait macules, Facial disfigurement
DOI: 10.7860/JCDR/2024/73533.19774
Date of Submission: Jun 13, 2024
Date of Peer Review: Jul 01, 2024
Date of Acceptance: Jul 18, 2024
Date of Publishing: Aug 01, 2024
AUTHOR DECLARATION:
• Financial or Other Competing Interests: None
• Was informed consent obtained from the subjects involved in the study? Yes
• For any images presented appropriate consent has been obtained from the subjects. Yes
PLAGIARISM CHECKING METHODS:
• Plagiarism X-checker: Jun 14, 2024
• Manual Googling: Jul 11, 2024
• iThenticate Software: Jul 17, 2024 (8%)
ETYMOLOGY: Author Origin
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