• Users Online: 277
  • Print this page
  • Email this page


 
 
Table of Contents
CASE REPORT
Year : 2020  |  Volume : 38  |  Issue : 2  |  Page : 110-112

An unusual localization of neurofibromas in a patient with neurofibromatosis type-1: The great auricular nerve


1 Department of Dermatology, Sultan Abdulhamid Han Training and Research Hospital, University of Health Sciences, Istanbul, Turkey
2 Department of Pathology, Sultan Abdulhamid Han Training and Research Hospital, University of Health Sciences, Istanbul, Turkey

Date of Submission14-Jan-2019
Date of Decision22-Sep-2019
Date of Acceptance21-Oct-2019
Date of Web Publication30-Apr-2020

Correspondence Address:
Dr. Tugba Falay Gur
Department of Dermatology, Sultan Abdulhamid Han Training and Research Hospital, University of Health Sciences, Uskudar, Istanbul
Turkey
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ds.ds_40_19

Rights and Permissions
  Abstract 


Neurofibromatosis type 1 (NF-1) is an autosomal dominant disorder characterized by café au lait macules, axillary freckling, neurofibromas, Lisch nodules, skeletal abnormalities, and a tendency to develop neoplasms. Neurofibromas are benign peripheral nerve sheath tumors that occur commonly in individuals with NF-1. Neurofibromas originating from the vagus nerve and spinal nerves are rarely reported in the literature. Here, we report an interesting case of NF-1 with a striking cutaneous presentation and bilateral localization in the great auricular nerve with bilateral vagal and multiple spinal neurofibromas. This is the first report of an NF-1 case with bilateral symmetric localization in the great auricular nerve.

Keywords: Great auricular nerve, neurofibroma, neurofibromatosis 1


How to cite this article:
Gur TF, Baysak S, Toprak M, Erdogan SS, Kara C, Dogan B. An unusual localization of neurofibromas in a patient with neurofibromatosis type-1: The great auricular nerve. Dermatol Sin 2020;38:110-2

How to cite this URL:
Gur TF, Baysak S, Toprak M, Erdogan SS, Kara C, Dogan B. An unusual localization of neurofibromas in a patient with neurofibromatosis type-1: The great auricular nerve. Dermatol Sin [serial online] 2020 [cited 2020 Aug 14];38:110-2. Available from: http://www.dermsinica.org/text.asp?2020/38/2/110/283530




  Introduction Top


Neurofibromatosis type 1 (NF-1) is an autosomal dominant disease characterized by café au lait macules, axillary freckling, neurofibromas, Lisch nodules, and skeletal abnormalities. Neurofibromas are benign nerve sheath tumors originating from the peripheral nervous system. Spinal neurofibromas are present in 38% of NF-1 patients, but only <2% of patients present with symptoms, such as pain, numbness, tingling, and weakness in arms and legs.[1],[2] In addition, the vagus nerve involvement has been reported in some NF-1 cases, and bilateral vagal neurofibromas are very rarely seen.[3] In this article, we report a case of NF-1 with a striking cutaneous presentation and a previously unreported bilateral symmetric localization in the great auricular nerve. Neurofibromas involving this superficial nerve of the neck also led to the emergence of asymptomatic spinal and vagal neurofibromas.


  Case Report Top


A 22-year-old male patient presented to our outpatient clinic with several lumps on his neck. Dermatologic examination revealed axillary freckling, café au lait macules, and numerous small, soft subcutaneous nodules (neurofibromas) on the whole body. The patient had not visited a doctor for these complaints. He reported that his mother and aunt had a mild form of similar lesions. Lisch nodules were detected in the eye examination. There were no skeletal abnormalities. His neurological examination findings, intellectual development, and blood pressure were normal. The patient was diagnosed with NF-1. The history of the patient showed that the lumps on his neck had first appeared 3 years earlier and had gradually grown larger. The physical examination revealed a large number of 1–3 cm palpable subcutaneous nodules with moderate stiffness, unattached to the skin, linearly arranged in a chain, starting from below the ear lobe, crossing the sternocleidomastoid (SCM) muscle, slightly curving toward the back of the neck, and ending at the lower part of the neck [Figure 1]a and [Figure 1]b. The lesions were asymptomatic. When the patient turned his head to one side, the lesions became more clearly visible on the other side of the neck. The laboratory findings and skeletal examination were within the normal ranges. His neurological findings were also normal.

The lesions were identified as lymph nodes on the neck ultrasonography. During the excision of the lesions, yellow, soft, ovoid nodular lesions were observed [Figure 1]c. Histopathology showed randomly arranged, thin spindle cells with wavy and hyperchromatic nuclei, as well as variable myxoid material and collagen surrounding these cells [Figure 2]a. The tumor cells were stained with S100 in a diffuse pattern [Figure 2]b. The stromal cells were stained positively with CD34 and factor XIIIa. Calretinin and CD56 staining were negative. The Ki-67 proliferation index was very low. These findings strongly supported the diagnosis of neurofibroma. Magnetic resonance (MR) imaging (MRI), performed to evaluate the spread of the lesions in the neck region, revealed multiple continuous and bilateral nodular ovoid lesions with submandibular and cervical localization, starting from the auricular level and following the path of the great auricular nerve [Figure 3]a.
Figure 1: (a and b) Multiple skin-colored subcutaneous nodules, linearly arranged in a chain starting from below the ear lobe on both sides of the neck, crossing the sternocleidomastoid muscle, slightly curving toward the back of the neck, and ending at the lower part of the neck. (c) Yellow, soft, ovoid nodular lesions were detected during the excision

Click here to view
Figure 2: Histopathology of the nodule excised from the neck. (a) Randomly arranged, thin spindle cells with wavy and hyperchromatic nuclei; variable myxoid material surrounding the cells and collagen (H and E, ×20). (b) Diffuse staining of tumor cells with S100 (×10)

Click here to view
Figure 3: (a) The coronal T2-weighted spinal magnetic resonance shows multiple continuous and bilateral hyperintense ovoid lesions (arrows) with cervical localization, starting from the auricular level and following the path of the great auricular nerve. Similar lesions observed in the vagus nerve (black asterisks). Masses are also seen in the vicinity of the thoracic vertebrae, consistent with bilateral neurofibromas (white asterisks). (b) The sagittal T2-weighted magnetic resonance image reveals numerous similar hyperintense lesions located along the sacral nerve and filling the neural foramens (arrow)

Click here to view


Similar lesions were observed on both sides of the neck in the cervical nerve roots and the vicinity of the cervical vertebrae, following the neural foramens and causing dilatation of foramens. In the cervical MR, bilateral oval lesions of greater size were found along the vagus nerve [Figure 3]a. The lesions were moderately contrast enhanced on the postcontrast series, and their signals were low on T1-weighted series and markedly hyperintense on T2-weighted series. The MR examination of the entire spinal cord for advanced examination revealed that the soft-tissue lesions of the same characteristics were also present at thoracic and sacral levels [Figure 3]a and [Figure 3]b. Most of the lesions were <1 mm, with the largest being 20 mm in diameter. Due to the contrast enhancement of the lesions, whole-body positron emission tomography with fluorine-18 deoxyglucose (FDG) was undertaken to exclude malignant degeneration. No FDG involvement consistent with a malignant process was detected.{Figure 3}

The patient did not have any clinical signs, such as muscle weakness or neurological deficit; thus, he was included in a clinical and radiological monitoring program without treatment. One year later, no significant growth or malignant transformation was detected in the lesions. The patient's informed consent was obtained to publish this report.


  Discussion Top


The great auricular nerve is the largest of the cervical cutaneous nerves and is completely sensory. This nerve originates from the ventral branches of the C2 and C3 spinal nerves. The great auricular nerve emerges from the posterior margin of the SCM muscle to the surface, and then ascends obliquely across the SCM muscle along the superficial cervical fascia. It innervates the skin of the auricle, as well as the skin over the parotid gland, mastoid process, and the angle of the mandible.[4],[5] The development of amputation neuroma has been reported due to the damage of the nerve during facial lift surgery.[5],[6] After the current patient was diagnosed with NF-1, the possibility of neck lesions being accompanied by lymphoid malignancy was considered. The localization of the neck lesions with clinical and MRI and pathology showed the presence of neurofibromas located along the great auricular nerve. The lesions were also not limited to the involvement of this nerve, with numerous neurofibromas being revealed at all spinal levels and along the vagus nerve.

Most spinal tumors in NF-1 are isolated and usually diagnosed as neurofibromas. Clinical symptoms developing in <2% of NF-1 cases, and annual follow-up of asymptomatic lesions is recommended.[1] Bilateral neurofibromas involving the spinal nerves from the cervical segment to the cauda equina are very rare.[7] Due to the anatomical relationship between these nerves and the vertebral bodies, neural structures and major blood vessels, it is difficult to operate on these neurofibromas.[8]

Neurofibromas originating from the vagus nerve are rare in NF-1 patients, and a bilateral neurofibroma is even rarer.[7] Cervical vagal neurofibromas are most commonly presented with asymptomatic, slow-growing, lateral neck masses. Clinically, dysphagia, dysphonia, dyspnea, vocal cord paralysis, cough, syncope attacks, and heart rate changes are seen.[9] Tumors originating from the vagus nerve may splay the internal jugular vein and carotid arteries. During the surgery, protecting the main nerve is difficult, because it is intertwined with nerve fascicles, and there is irregular thickening of the adjacent nerves.[3]

There is no definitive method of treatment for common neurofibromas. Although studies have shown that rapamycin, imatinib, sorafenib, and interferon are successful at varying degrees in the treatment of plexiform neurofibromas, the research in this area is still ongoing.[10] In the current case, surgery was not considered appropriate due to the proximity of the lesions to vital areas. Since the current patient was asymptomatic, he was informed about the symptoms and included in a clinical and radiological follow-up.

The great auricular nerve is superficially located; thus, the patient presented with easily palpable nodules, arranged in a linear line along the nerve on both sides of the neck. This presentation may be included in the differential diagnosis of NF-1-associated malignancies. Although the patient had no complaints, the detection of spinal and vagal neurofibromas was a warning for both the patient and the physicians in terms of the possible future development of tumor pressure and related symptoms. This case was presented due to the previously unreported great auricular nerve localization of the neurofibromas, the striking cutaneous findings of the lesions, and the accompanying diffuse neurofibromas.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given his consent for his images and other clinical information to be reported in the journal. The patient understands that his name and initials will not be published, and due efforts will be made to conceal his identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Mautner VF, Asuagbor FA, Dombi E, Fünsterer C, Kluwe L, Wenzel R, et al. Assessment of benign tumor burden by whole-body MRI in patients with neurofibromatosis 1. Neuro Oncol 2008;10:593-8.  Back to cited text no. 1
    
2.
Carman Kb, Yakut A, Anlar B, Ayter S. Spinal neurofibromatosis associated with classical neurofibromatosis type 1: Genetic characterisation of an atypical case. BMJ Case Rep 2013;2013. pii: bcr2012008468.  Back to cited text no. 2
    
3.
Liu B, Zhang Y, Zhang L, Zhang F, Li H, Li S, et al. A rare case of bilateral cervical vagal neurofibromas: Role of high-resolution ultrasound. BMC Neurol 2017;17:26.  Back to cited text no. 3
    
4.
Yang HM, Kim HJ, Hu KS. Anatomic and histological study of great auricular nerve and its clinical implication. J Plast Reconstr Aesthet Surg 2015;68:230-6.  Back to cited text no. 4
    
5.
de Chalain T, Nahai F. Amputation neuromas of the great auricular nerve after rhytidectomy. Ann Plast Surg 1995;35:297-9.  Back to cited text no. 5
    
6.
Manstein CH, Manstein G. Bilateral neuromata of the great auricular nerves 8 years following face lift. Plast Reconstr Surg 1985;76:937-8.  Back to cited text no. 6
    
7.
Pascual-Castroviejo I, Pascual-Pascual SI, Viaño J, Velazquez-Fragua R, López-Gutierrez JC. Bilateral spinal neurofibromas in patients with neurofibromatosis 1. Brain Dev 2012;34:563-9.  Back to cited text no. 7
    
8.
Pandey S, Singh K, Sharma V, Khan MT, Ghosh A, Santhosh D. Bilateral mirror image cervical neurofibroma in an adult with neurofibromatosis type 1. Malays J Med Sci 2017;24:117-20.  Back to cited text no. 8
    
9.
Guler AK, Gunaldi O, Alis H, Tugcu B, Tanriverdi O, Colluoglu B. Cervical segment nervus vagus neurofibroma with associated neurofibromatosis type 1: A case report. Minim Invasive Neurosurg 2009;52:246-9.  Back to cited text no. 9
    
10.
Lin AL, Gutmann DH. Advances in the treatment of neurofibromatosis-associated tumours. Nat Rev Clin Oncol 2013;10:616-24.  Back to cited text no. 10
    


    Figures

  [Figure 1], [Figure 2], [Figure 3]



 

Top
 
  Search
 
    Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
    Access Statistics
    Email Alert *
    Add to My List *
* Registration required (free)  

 
  In this article
Abstract
Introduction
Case Report
Discussion
References
Article Figures

 Article Access Statistics
    Viewed261    
    Printed26    
    Emailed0    
    PDF Downloaded45    
    Comments [Add]    

Recommend this journal