Incidental Finding of Isolated Colonic Neurofibroma

Abstract

Neurofibromatosis is a genetic disorder manifested by characteristic cutaneous lesions called neurofibromas. There are two distinct neurocutaneous syndromes named neurofibromatosis type 1 (also called von Recklinghausen disease or NF1) and neurofibromatosis type 2 (NF2). NF1 is by far the most common presentation and is caused by an autosomal dominant mutation in the NF1 gene mapped to chromosome 17q11.2. The literature shows that gastrointestinal involvement is noted in systemic neurofibromatosis in up to 25% of patients, but isolated intestinal neurofibromatosis is a very rare manifestation. We herein present the case of a 70-year-old woman who was diagnosed with an isolated colonic neurofibroma without any systemic signs of neurofibromatosis; only a few case reports of this condition have been published to date.

Rectal Mucosal Schwann-Cell Hamartoma: A Case Report and Literature Review

“…Neurofibromas are mostly found in the stomach or small intestine, with colonic involvement very rare [1]. The isolated neurofibroma of the gastrointestinal tract described in 1937 is a rare entity [6,8,9] and a solitary neurfibromal colonic polyp without NF1 is also rare, with only 12 cases seen from 1937 to 2000 [10,11] and less than 20 such cases reported in the literature until now [12]. The less studied Schwann cell hamartoma has been identified in the last few years.…”

Isolated colonic neurofibroma revealed by a painful abdominal mass

“…4,5 Only a few case reports of this condition have been published to date. 1 We report a case of isolated colonic neurofibroma in a 37-years-old woman, who had consulted for a painful abdominal mass, two month after a caesarean.…”

“…1 It is characterized by the development of many benign tumours, mainly "café au lait" skin spots, cutaneous neurofibromas, subcutaneous and deep, and iris Lisch nodules. 2 Malignant degeneration of NF1 is possible in 3-4% of cases, from visceral neurofibromas.…”

An Isolated Colonic Neurofibroma

“…Isolated neurofibroma of the gastrointestinal tract was first described in 1937, and remains a rare entity [ 1 ]. Since then, less than 20 such cases have been reported in the literature [ 2 ]. Clinical presentation ranges from incidental findings on routine colonoscopy to massive lower gastrointestinal bleeding [ 2 , 3 ].…”

“…Since then, less than 20 such cases have been reported in the literature [ 2 ]. Clinical presentation ranges from incidental findings on routine colonoscopy to massive lower gastrointestinal bleeding [ 2 , 3 ]. In spite of an increase in reporting of isolated colonic neurofibromas (ICN) in the past decade, the etiology, pathogenesis, prognosis and treatment options for ICN remain unclear.…”