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THROUGH THE LENS
Year : 2014  |  Volume : 5  |  Issue : 3  |  Page : 362-363  

Plexiform neurofibromatosis


Department of Dermatology, L. T. M. Medical College and General Hospital, Mumbai, Maharashtra, India

Date of Web Publication31-Jul-2014

Correspondence Address:
Ganesh Avhad
Room No. 304, New RMO Hostel, L. T. M. Medical College and General Hospital, Sion, Mumbai - 400 022
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2229-5178.137815

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How to cite this article:
Avhad G, Jerajani H R. Plexiform neurofibromatosis. Indian Dermatol Online J 2014;5:362-3

How to cite this URL:
Avhad G, Jerajani H R. Plexiform neurofibromatosis. Indian Dermatol Online J [serial online] 2014 [cited 2021 Jun 22];5:362-3. Available from: https://www.idoj.in/text.asp?2014/5/3/362/137815

A 34-year-old female presented with large pedunculated lesion over right shoulder associated with cafe au lait macules and neurofibromas since childhood [Figure 1]. The lesion over the right shoulder gradually increased over the time and was painless. The lesion extended over right arm and breast region without any posterior extension over scapular area. Radiograph of right shoulder did not show any bony involvement. Histopathology revealed normal epidermis with well-circumscribed collections of spindle cells in the dermis [Figure 2].
Figure 1: Giant brown pedunculated lesion over right shoulder

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Figure 2: Hematoxylin and eosin-stain showed well-circumscribed collections of spindle cells in the dermis (×100)

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Neurofibromatosis type 1 is a benign autosomal dominant genetic disorder with complete penetration. It is caused due to mutation of a gene present on chromosome 17q11.2 that encodes protein neurofibromin which is negative regulator of RAS proto oncogene signal transduction pathway. It affects approximately 1 in 3 000 individuals. [1]

Plexiform neurofibroma is a least common form of neurofibromatosis which occurs in 5% and shows rapid proliferation of the neural tissue in the subcutaneous fat. It occurs in either solitary nodular or diffuse form which is also known as elephantiasis neurofibromatosis. They have risk of development of malignancy which ranges from 5% to 28%. The risk of malignancy increases with the duration of disease as well as according to size of lesion. The commonest malignancy in plexiform neurofibromatosis is Malignant Peripheral Nerve Sheath Tumors (MPNST). Among patients with MPNST, the chance of recurrence of malignancy is up to 47%, with metastasis occurring in 20% of cases. [2]

The commonest site of Plexiform neurofibromatosis is along the trigeminal nerve distribution. Positron Emission Tomography scan may be used to exclude malignancy along with Magnetic Resonance Imaging to define such tumors. [3]

Surgical excision along with genetic counseling remains the treatment of choice, but patients with plexiform neurofibroma have to keep follow up on regular basis as they have risk of development of malignancy or recurrence. [3]



 
   References Top

1.Easton DF, Ponder MA, Huson SM, Ponder BA. An analysis of variation in expression of neurofibromatosis (NF) type I (NF I): Evidence for modifying genes. Am J Hum Genet 1993;53:305-13.  Back to cited text no. 1
    
2.McCarron KF, Goldblum JR. Plexiform neurofibroma with and without associated malignant peripheral nerve sheath tumor: A clinicopathologic and immunohistochemical analysis of 54 cases. Mod Pathol 1998;11:612-7.  Back to cited text no. 2
    
3.Sehgal VN, Srivastava G, Aggarwal AK, Oberai R. Plexiform neurofibromas in neurofibromatosis type 1. Int J Dermatol 2009;48:971-4.  Back to cited text no. 3
    


    Figures

  [Figure 1], [Figure 2]



 

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