Journal of Experimental and Integrative Medicine www.jeim.org Case Report DOI: 10.5455/jeim.080317.cr.008 Isolated plexiform neurofibroma in a patient with tuberous sclerosis: A rare association

Joyeeta Chowdhury, Loknath Ghoshal, Subhomay Neogi

Department of ABSTRACT Dermatology, Nil Ratan Plexiform neurofibroma is a rare tumor originating in peripheral nerve sheaths. It is mostly associated with Sircar Medical College and Hospital, Kolkata, neurofibromatosis typea1 and occasionally as an isolated entity. We report a case of isolated plexiform West Bengal, India neurofibroma associated with tuberous sclerosis.

Address for correspondence: Joyeeta Chowdhury, Nil Ratan Sircar Medical College and Hospital, 139 AJC Bose Road, Kolkata, West Bengal, India. E-mail: joyeeta_chowdhury@ yahoo.co.in

Received: June 28, 2016 Accepted: March 08, 2017 Published: March 31, 2017 KEY WORDS: Isolated, plexiform neurofibroma, tuberous sclerosis

INTRODUCTION looked for other associated cutaneous abnormalities in favor of neurofibromatosis and tuberous sclerosis, but nothing was Plexiform neurofibroma is a characteristic finding of found. On inquiry, her mother told that the facial lesions started neurofibromatosis one though isolated cases exist. developing for past 2 years and the neck mass was visible since Neurofibromatosis belongs to phakomatoses which are a group past 3 years. There is no history of consanguity, no family history, of neurocutaneous disorders characterized by involvement of no history of epilepsy. Development milestones were normal. structures that arise from the embryonic ectoderm including Eye examination was normal. Computed tomography (CT) central nervous system, skin, and eyes. Every disorder of this scan of the head showed multiple ependymomas that one of syndrome has some characteristic diagnostic features, though the major criteria of tuberous sclerosis [Figure 3]. Tuberous overlap or associations have been reported [1,2]. We report a case of isolated plexiform neurofibroma associated with tuberous sclerosis.

CASE REPORT

A 7-year-old girl was referred to dermatology outdoor for pain and swelling over the right side of her neck for past 1 year. On examination, we found multiple nodular swellings over the right side of her neck. The nodules were present on an underlying hyper pigmented mass [Figure 1]. The nodules were firm and painful to touch. On puncture cheesy material came out. These were diagnosed as sebaceous cyst. The underlying mass was almost 5 cm × 7 cm in diameter and felt like a bag of worms on palpation. It was clinically diagnosed as plexiform neurofibroma. We also found multiple keratotic small papules over her centro-facial region [Figure 2]. These were diagnosed Figure 1: Multiple nodular swellings over the right side of her neck on as angiofibromas by fine needle aspiration cytology. We an underlying hyper pigmented mass

J Exp Integr Med ● 2017 ● Vol 7 ● Issue 1 11 Chowdhury, et al.: Isolated plexiform neurofibroma

Tuberous sclerosis is a common genetically determined neurocutaneous syndrome characterized clinically by variable neuropsychiatric manifestations ranging from epilepsy to mental retardation and autism. Cutaneous characteristics are facial angiofibromas, subungual fibromas, shagreen patches, and hypomelanotic macules. Cerebral ependymomas, cardiac rhabdomyomas, renal angiomyolipomas, and pulmonary lymphangiomyomatosis are some of the visceral findings [5]. Plexiform neurofibroma is a rare tumor originating in peripheral nerve sheaths that histologically is comprised Schwann cell proliferation organized in myxoid stroma. It usually at 4-5 years of age, while deep lesions can manifest in adulthood [6].

They are hyperextensible plaques that feel like a bag of worms on palpation. They have been found commonly over head and neck region though some unusual locations have also been Figure 2: Multiple angiofibromas over face of the same patient reported [7-9].

Plexiform neurofibroma is usually associated with neurofibromatosis type 1, though isolated cases without any association have also been seen [10]. However, association of plexiform neurofibroma with tuberous sclerosis has not been reported till date. As phakomatoses comprise a group of disorders with some common features, some overlap symptoms are possible. Hence, we report this case.

REFERENCES

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