neurofibromatosis type 1 ( nf - i ; von recklinghausen disease ) is the most common autosomal dominant hereditary disease , with an estimated birth incidence of approximately one in 3000 . the diagnosis of nf - i is clinical based on national institutes of health ( nih ) consensus guidelines which have not changed much since 1988 . gastrointestinal ( gi ) involvement by nf - i varies widely from benign lesions and intermediate neoplasms to uncommon aggressive malignancies . of these , gastrointestinal stromal tumor ( gist ) represents the most frequent gi manifestation affecting approximately a quarter of the patients [ 3 , 4 ] . peripheral nerve sheath tumors such as neurofibroma , diffuse neurofibromatosis , and ganglioneuromatosis are much less common [ 5 , 6 ] . the incidence of mucosal nonadenomatous nf - i associated gi polyps is even more rare and varies on a spectrum ranging from hyperplastic polyps and inflammatory polyps to juvenile - like polyps . hyperplastic polyps in the gastroesophageal junction ( gej ) show a proliferation of hyperplastic gastric foveolar - type epithelium ( gastric ) or squamous epithelium ( distal esophageal ) or a combination of the two with variable amounts of inflamed stroma . cases of inflammatory / hyperplastic polyp at the gastroesophageal junction ( gej ) have not been reported in adult patients with nf-1 although 3 cases of gastric inflammatory / hyperplastic polyps have been reported previously in nf-1 patients . the rarity of these lesions and the application of endoscopic submucosal dissection ( esd ) for lesion removal which allowed for en bloc removal with accurate histopathologic evaluation led us to report a case of an adult with a lesion containing an inflammatory / hyperplastic polyp and a neurofibroma and to perform a thorough review of the literature for similar cases . a 23-year - old caucasian male with a history of neurofibromatosis type i ( nf - i ) since birth , without any developmental delays , was evaluated for recurrent nausea , vomiting , and reflux esophagitis . he had a history of multiple pigmented spots on the trunk with no change in the number or size of the lesions . he also complained of leg and buttock pain which was being managed by pain medication . he denied any other neurological symptoms such as numbness , weakness , or vision change . physical examination revealed multiple caf - au - lait spots , mainly distributed on the back and chest . lumbar spine mri showed bilateral plexiform neurofibromas which were also present on a previous mri few years ago . esophagogastroduodenoscopy ( egd ) revealed a single well - defined 20  10  mm subepithelial nodule at the gej . endoscopic guided forceps biopsy revealed acute esophagitis with ulceration and granulation tissue without any neoplastic tissue identified . on endoscopic ultrasound , ultrasound - guided fine needle aspiration ( fna ) showed rare fragments of bland - appearing spindle cells , suspicious for a submucosal spindle cell lesion , but the tissue was not sufficient for further characterization . due to the submucosal location and uncertainty of the exact nature of the lesion , esd was performed for en bloc removal . at the time of the esd , en bloc resection was achieved and a 46 by 35  mm area involving 40% of the gej circumference was resected ( figures 1 and 2 ) . the dominant lesion consisted of hyperplastic gastric type mucosa with coiled elongated foveolae lined by mucin secreting cells ( figure 3 ) . mucus glands were present underneath surface epithelium admixed with edema , fibrosis , and nonspecific inflammation . several foci of obliterative vasculopathy were present in the deep portion of the lesion at the resection margin ( figure 4 ) . the smaller lesion consisted of a nonencapsulated lesion with bland spindle cell proliferation ( figures 5 and 6 ) . the spindle cells were positive for s-100 but negative for sma , cd117 , ema , and cd34 . the patient did well from the endoscopic resection and continues to symptomatically do better at one - month follow - up . nf - i is a multisystem genetic disorder that is commonly associated with cutaneous findings such as caf - au - lait spots and axillary freckling , neurologic findings including both benign and malignant nervous system tumors , most notably benign neurofibromas , and orthopedic manifestations such as skeletal dysplasia . the frequency of gastrointestinal manifestations in nf - i is estimated to be between 11 and 25%   and they mainly include mucosal neurofibromas and gastrointestinal stromal tumors , although gastric carcinoids are also reported [ 4 , 10 ] . inflammatory polyps ( nonadenomatous , juvenile - like polyps ) are uncommon in nf - i , occurring mostly in children , and although they have been reported in the literature they have not yet formally been included in the list of the disease manifestations . gastric / gej lesions are extremely rare with only seven cases reported in the literature for both pediatric and adult populations [ 1114 ] . more specifically , only six cases of gastric / gej polyps were reported in nf - i patients including three pediatric nf-1 patients with all polyps locating at the gej and three adult nf - i patients with all polyps in the stomach [ 11 , 12 ] . no gej juvenile - like polyps have been previously described in adult nf - i patients . further , coexistence of juvenile - like polyp with neurofibroma has never been reported in an adult , although a single case of an inflammatory polyp associated with a neurofibroma has been described once in the pediatric literature . . a thorough evaluation with standard techniques including egd with biopsy and fna and endoscopic ultrasound did not provide definitive diagnosis , but endoscopy with esd was able to safely remove the lesion en bloc which provided the opportunity for complete lesion excision and comprehensive histopathologic evaluation . furthermore , our case is unique because of the age of the patient , the presence of 2 histologically separate lesions in one endoscopically evident nodule , and the presence of obliterative vasculopathy in the juvenile - like polyp . to our knowledge , this is the first case of concurrence of gej juvenile - like polyp and neurofibroma in an adult nf - i patient . the etiology of juvenile - like ( hyperplastic / inflammatory ) polyp is not clear . however , the presence of significant obliterative vasculopathy in the current case as well as in one previously described inflammatory cecal polyp   suggests that ischemic injury with an exuberant regeneration may play a role in the pathogenesis of juvenile - like inflammatory / hyperplastic polyp in nf-1 patients . the clinical significance of these juvenile - like lesions in nf - i patients is not clear and the relationship of these lesions with the nf - i genotype needs further studies . hyperplastic / nonadenomatous gastrointestinal polyps in the setting of nf - i have been reported in 16 patients in the literature written in english language [ 8 , 15 ] . of these , only 7 patients had gastric / gej lesions which are summarized in table 1 . both pediatric and adult cases have been reported ( 3 pediatric , 4 adult ) with a mean age of 29 years and a range of 1.569 years . a male predisposition is noted ( 6 males , 1 female ) . all patients presented with gi symptoms and/or chronic iron deficiency anemia , in cases with a detailed clinical history . pediatric cases often presented with growth failure or abdominal symptoms . within the stomach , 3 patients had a single polyp while 4 patients had multiple polyps . amongst the pediatric population , the lesions were located at the z - line ( 1 patient ) , cardia ( 1 patient ) , and gej ( 1 patient ) while , in the adult population , lesions were located at the greater curvature ( 1 patient ) , fundus ( 1 patient ) , antrum ( 2 patients ) , and distal esophagus ( 1 patient ) . of note , one of the above adult patients had multiple polyps which were noted in both the fundus and the antrum . other gi manifestations of nf-1 in patients listed in table 1 included one or multiple small - bowel gists ( two patients ) , duodenal somatostatinoma ( one patient ) , duodenal hyperplastic - inflammatory polyp ( one patient ) , interstitial cell of cajal hyperplasia ( one patient ) , cecal inflammatory polyp ( one patient ) , and angiomatous colonic polyp ( one patient ) . comprehensive histological description of the index lesion was available for five cases [ 8 , 13 , 14 ] . a large antral lesion which was initially mistaken as a gist due to diffuse hemorrhagic necrosis suggestive of an underlying vascular lesion with an extensive fibroblastic reaction and a few haphazardly distributed s100 positive nerve fibers in the lamina propria . one polyp was predominantly inflammatory with some crypt distortion , hypervascularization with evidence of nf - i associated vasculopathy as suggested by thick walled vessels showing fibromyxoid intimal thickening , and a cellular stroma composed of bland- looking ovoid fibroblastic cells . genetic analysis was not performed in any case ; however a clinical diagnosis of nf - i was established in all cases . hence , genotypic correlations for the development of hyperplastic / inflammatory polyp phenotype can not be established . when specifically looking at the three patients with gej lesions , two were pediatric , and polyp size ranged from 2 to 21  mm ( mean of 13  mm ) . all patients except the adult with the gej lesion had a preexisting confirmed clinical diagnosis of nf - i based on the presence of two or more major nih criteria [ 8 , 1114 ] . the adult without a preexisting diagnosis had a family history of nf - i , underwent surgery for adhesions , was found to have a small - bowel gist , and was subsequently diagnosed with nf - i along with presence of inflammatory polyps in the distal esophagus and the cecum .
a 23-year - old caucasian male with neurofibromatosis type i ( nf - i ) was found to have a submucosal nodule at the gastroesophageal junction ( gej ) and underwent endoscopic submucosal dissection . 
 histological examination revealed two different lesions within the nodule . 
 the dominant lesion was inflammatory / hyperplastic ( juvenile - like ) polyp with obliterative vasculopathy while the smaller lesion was a neurofibroma . 
 gastric / gej lesions in nf - i are very rare with only seven cases reported in the literature . 
 three cases of juvenile - like gastric polyps ( located in the antrum , greater curvature , and fundus ) have been reported in adult nf - i patients . 
 an inflammatory polyp associated with a neurofibroma has only been described once in the pediatric literature but never in an adult . 
 our case is unique from those previously described in the literature due to the age of the patient , the presence of 2 histologically separate lesions in one endoscopically evident lesion , and the presence of obliterative vasculopathy in the juvenile - like polyp .