Table of Contents  
CASE REPORT
Year : 2016  |  Volume : 9  |  Issue : 1  |  Page : 143-146  

Giant plexiform neurofibroma of digital nerves: A case report and review of the literature


Department of Surgery, Dr. D. Y. Patil Medical College, Pune, Maharashtra, India

Date of Web Publication22-Dec-2015

Correspondence Address:
Bharat B Dogra
Department of Surgery, Dr. D. Y. Patil Medical College, Pune - 411 018, Maharashtra
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0975-2870.168004

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  Abstract 

Neurofibroma is a benign tumor arising from nerve sheath of peripheral nerves, and may present as an isolated lesion or may present as part of von Recklinghausen's disease. Although plexiform neurofibromas usually affect the face, neck, back, and inguinal region, however other areas may rarely be affected. Plexiform neurofibroma of the palm is a very rare entity, which may affect the fine motor functions of the hand. Surgery is the only treatment option available, but due to diffuse involvement of the nerves and infiltrating nature of the lesions, complete resection may be impossible in many of the cases. We are reporting a case of giant neurofibroma of the palm affecting digital nerves in a 37-year-old patient presenting with features of Von Recklinghausen's disease. He presented with pain and swelling over left palm of 8 years duration. We carried out the surgical excision of the mass, and the individual has been followed-up on out-patient basis for about 3 months without showing any evidence of local recurrence.

Keywords: Café-au-lait macules, neurofibroma of palm, von Recklinghausen′s disease


How to cite this article:
Dogra BB, Kandari A, Ahmed S, Virmani R. Giant plexiform neurofibroma of digital nerves: A case report and review of the literature . Med J DY Patil Univ 2016;9:143-6

How to cite this URL:
Dogra BB, Kandari A, Ahmed S, Virmani R. Giant plexiform neurofibroma of digital nerves: A case report and review of the literature . Med J DY Patil Univ [serial online] 2016 [cited 2020 Aug 9];9:143-6. Available from: http://www.mjdrdypu.org/text.asp?2016/9/1/143/168004


  Introduction Top


Neurofibromatosis-1 (NF-1) is an inherited disorder, transmitted as a Mendelian dominant disorder of the peripheral nervous system and commonly affect the extremities. This deformity is characterized by pigmented cutaneous lesions, namely, café-au-lait spots, generalized tumors of neural crest origin, and Lisch nodules. It is often associated with defects of skull bones, kyphoscoliosis, optic gliomas, focal gigantism, and vascular lesions. Because of the variable gene expression, only 50% of the patients will have a positive family history. Isolated neurofibroma of palm is rarely seen. We report here a case of NF-1, who presented with a large pear shaped neurofibroma of the digital nerves of palm. He has been successfully managed by complete surgical excision of the lesion with good results. He has been followed-up for 3 months, and no evidence of local recurrence has been observed till date.


  Case Report Top


AB, 37-year-old male patient reported to us with a history of painless swelling over the left palm of 8 year's duration. The swelling progressively increased in size over the years and was associated with pain for last couple of years. Denied history of local trauma or NF in other family members. General physical examination revealed presence of multiple café-au-lait spots over his back and chest wall, size of spots being more than 15 mm. Besides, he also had multiple sessile neurofibromas over face, scalp, and back [Figure 1] and axillary freckling. Ophthalmological consultation revealed presence of Lisch nodules over iris. Locally, he had a globular, nontender swelling over thenar region of the left palm. Overlying skin was, however, normal [Figure 2]. Magnetic resonance imaging (MRI) showed well defined lobulated lesion 6.5 cm × 3.4 cm × 3.9 cm in size over left palm. It was homogeneously isotense to muscles on T1-weighted images and hyper intense on T2-weighted images [Figure 3].
Figure 1: Multiple café-au-laid spots and neurofibromas over back

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Figure 2: Mass occupying thenar region left palm

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Figure 3: Magnetic resonance imaging palm showing mass 6.5 cm × 3.4 cm × 3.9 cm in size over left palm

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Complete surgical excision of the mass was carried out [Figure 4] and [Figure 5]. Histopathological exam of excised specimen revealed the spindle shaped cells with intervening neural fibers, in a loose myxomatous stroma [Figure 6]. Patient has been followed-up for about 3 months but there has been no evidence of recurrence [Figure 7].
Figure 4: Pear shaped mass being removed and the specimen

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Figure 5: Excised specimen

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Figure 6: HP exam showing spindle shaped cells with intervening neural fi bers

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Figure 7: Immediate postoperative picture

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  Discussion Top


Neurofibromatosis is a hereditary neurologic disorder first described by the German pathologist Frederich Von Recklinghausen in 1882. [1] NF-1-or Von Recklinghuasen's disease is transmitted on chromosome 17 and is mostly caused by mutation of NF-1 gene whereas NF-2 results mainly from a mutation of NF-2 gene and transmitted on chromosome 22.

In 1987, a conference at National Institutes of Health had agreed to 7 point diagnostic criteria of patients with NF-1. The diagnosis of NF-1 is established when two or more of these seven features listed below are present: [2]

  1. Six or more café-au-laid spots larger than 5 mm in greatest diameter in prepubertal individuals and 15 mm in greatest diameter in postpubertal individuals.
  2. Two or more neurofibromas of any type or one plexiform neurofibroma.
  3. Freckling in the axillary or inguinal regions.
  4. Optic glioma.
  5. Two or more Lisch nodules (iris hamartomas).
  6. A distinctive osseous lesion, such as sphenoid dysplasia or thinning of the long bone cortex, with or without pseudoarthrosis.
  7. A first-degree relative with NF-1 according to the above criteria.
The case being reported here, full filled four of the possible seven diagnostic criteria.

Many different forms of neurofibromas have been described in literature, [3] these include-cutaneous neurofibromas, Intra neural neurofibromas, massive soft tissue neurofibromas, visceral neurofibromas, sporadic or associated with NF-1 (von Recklinghausen's disease). These entities differ mainly on their clinical presentation and the gross appearance. NF is an autosomal dominant disease, which affects the neural crest cells that give rise to ectodermal and mesodermal derivatives.

This genetic disorder is one of the most frequent human genetic diseases, with a prevalence of one in 3,000 births. [4]

Plexiform neurofibromas, are among the most common and debilitating complications of NF-1. They cause substantial morbidity, including disfigurement and functional impairment. [5] Plexiform neurofibromas, exhibit a characteristic "bag of worms" appearance on gross examination and cross-sectional imaging because of the involvement of the long segment of a major nerve trunk and its branches. They are found in up to 26% of patients with NF-1 and are diffuse, large, elongated fibromas, histologically similar to discrete neurofibromas commonly seen on the face and neck and sometimes can lead to massive enlargement of a limb or some other part of body (elephantiasis neuromatosa). Fusiform enlargement of multiple nerve fascicles and branches is characteristic. [6]

Computer tomography scan and MRI of plexiform neurofibroma may show multi lobulated masses. The typical pattern on MRI is relatively low signal intensity or signal intensity similar to that of muscle with T1-weighting and signal intensity greater than that of fat with T2-weighting. [7]

Plexiform neurofibroma is commonly seen involving the branches of trigeminal and cervical nerves over the face, but plexiform neurofibroma affecting the digital nerves in palm is very rare. Nagey et al. reported a neurofibroma of the palmar cutaneous branch of the median nerve, presenting as palmar mass with an overlying abnormality of the skin. [8] The case being reported here also presented as a mass, but overlying skin was normal. Basheer et al. reported four cases of neurofibroma affecting digital nerves and achieved excision of the tumor by meticulous dissection in three out of four cases. [9] Jones and Tonkin reported a unique case of 44-year-old gentleman presenting with a lump within his right palm that spanned several decades. This tumor turned out to be emanating from both ulnar and median nerves, the histopathological diagnosis of which was a plexiform neurofibroma. [10]

Treatment of plexiform neurofibroma is primarily surgery. Surgical excision is probably the only therapy available because there is no medication that can prevent or treat plexiform neurofibromas. However, the results of surgical excision are also generally poor and the procedures can be complicated due to the size, location, vascular status, neural involvement, microscopic extension of the tumor, and the high rate of tumor re-growth. [11]

Improved understanding of the molecular and cellular biology of the cells involved in the formation and growth of neurofibromas may lead to development of other forms of treatments, including drug therapies, but their role is yet to be defined. [6]

Neurofibromas associated with NF-1 are likely to recur or undergo malignant transformation. These tumors are nonradiosensitive and limited benefit has been observed with chemotherapy. The recurrence is seen in as many as 20% of the patients with a plexiform neurofibroma after complete resection which increases to 44% with subtotal resection.

 
  References Top

1.
Gerber PA, Antal AS, Neumann NJ, Homey B, Matuschek C, Peiper M, et al. Neurofibromatosis. Eur J Med Res 2009;14:102-5.  Back to cited text no. 1
    
2.
Neurofibromatosis. Conference statement. National institutes of health consensus development conference. Arch Neurol 1988;45:575-8.  Back to cited text no. 2
[PUBMED]    
3.
Burger PC, Scheithauer BW, Vogel FS. Surgical Pathology of the Nervous System and its Coverings. Philadelphia: Churchill Livingstone; 2002. p. 594-611.  Back to cited text no. 3
    
4.
Ghalayani P, Saberi Z, Sardari F. Neurofibromatosis type I (von Recklinghausen's disease): A family case report and literature review. Dent Res J (Isfahan) 2012;9:483-8.  Back to cited text no. 4
    
5.
Korf BR. Plexiform neurofibromas. Am J Med Genet 1999;89:31-7.  Back to cited text no. 5
    
6.
Bano S, Prasad A, Yadav SN, Chaudhary V, Sachdeva N. Elephantiasis neuromatosa of the lower limb in a patient with neurofibromatosis type-1: A case report with imaging findings. J Pediatr Neurosci 2010;5:59-63.  Back to cited text no. 6
[PUBMED]  Medknow Journal  
7.
Peh WC, Shek TW, Yip DK. Magnetic resonance imaging of subcutaneous diffuse neurofibroma. Br J Radiol 1997;70:1180-3.  Back to cited text no. 7
    
8.
Nagey L, McCabe SJ, Wolff TW. A case of neurofibroma of the palmar cutaneous branch of the median nerve. J Hand Surg Br 1990;15:489-90.  Back to cited text no. 8
    
9.
Basheer H, Rabia F, Basheer H, el-Helw K. Neurofibromas of digital nerves. J Hand Surg Br 1997;22:61-3.  Back to cited text no. 9
[PUBMED]    
10.
Jones ME, Tonkin MA. Plexiform neurofibroma with dual nerve origin within the palm: A case report. Hand Surg 2007;12:173-6.  Back to cited text no. 10
    
11.
Kudur MH, Hulmani M. Isolated plexiform neurofibroma over left palm: A case report and review of literature. Indian J Dermatol 2013;58:245.  Back to cited text no. 11
[PUBMED]  Medknow Journal  


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7]



 

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