CC BY 4.0 · Endoscopy 2024; 56(S 01): E538-E539
DOI: 10.1055/a-2321-9697
E-Videos

Endoscopic submucosal dissection for a rare cause of esophageal mass: Von Recklinghausen's neurofibromatosis

Huige Wang
1   Department of Gastroenterology and Hepatology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China (Ringgold ID: RIN191599)
,
Jiyu Zhang
1   Department of Gastroenterology and Hepatology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China (Ringgold ID: RIN191599)
,
Miao Shi
1   Department of Gastroenterology and Hepatology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China (Ringgold ID: RIN191599)
,
1   Department of Gastroenterology and Hepatology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China (Ringgold ID: RIN191599)
,
1   Department of Gastroenterology and Hepatology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China (Ringgold ID: RIN191599)
› Author Affiliations

Supported by: Natural Science Foundation of Henan Province 212300410397
 

A 72-year-old woman was admitted to our hospital with a 20-year history of intermittent subxiphoid pain, which intensified in the past 2 months. Physical examination revealed dermal manifestations suggestive of neurofibromatosis ([Fig. 1]a). Enhanced computed tomography identified thickening of the distal esophageal wall. During upper endoscopy, a mass was observed stretching from the lower esophagus to the gastric cardia, leading to partial esophageal obstruction ([Fig. 1]b). Endoscopic ultrasound depicted a hypoechoic submucosal mass, distinguished by several anechoic lesions extending into the esophageal lumen ([Fig. 1]c). With informed consent from the patient, the mass was successfully excised using endoscopic submucosal dissection ([Fig. 1]d, [Video 1]). The extracted specimen measured 3.0 × 5.0 × 5.0 cm ([Fig. 1]e). Histopathological evaluation confirmed neurofibromatosis, identified by neurofibromatous cells encircling the specimen ([Fig. 1]f). The patient experienced no symptoms and showed no signs of recurrence or residual mass on follow-up endoscopic evaluations over 1 year.

Zoom Image
Fig. 1 a Cutaneous manifestations of neurofibromatosis observed during physical examination. b Upper endoscopy showing a mass originating from the lower esophagus to the gastric cardia. c Hypoechoic, submucosally-originating mass with multiple anechoic projections into the esophageal cavity, as revealed by endoscopic ultrasound. d Complete removal of the mass via endoscopic submucosal dissection. e The resected specimen. f Histological analysis confirming the presence of neurofibromatosis.
Endoscopic submucosal dissection for a rare cause of esophageal mass: Von Recklinghausen's neurofibromatosis.Video 1

Von Recklinghausen's neurofibromatosis, an autosomal dominant condition, is generally characterized by dermal neurofibromas and distinctive café-au-lait spots. Though predominantly affecting the jejunum, stomach, ileum, and colorectum, esophagus involvement is scarce [1] [2]. To the best of our knowledge, this is the inaugural report of an esophageal neurofibromatosis case managed with the ESD technique, demonstrating its safety and efficacy. This case underscores the need for endoscopists to be vigilant for signs of gastrointestinal neurofibroma, particularly in patients with dermal nodules, and suggests that endoscopic approaches like endoscopic submucosal dissection can provide an accurate diagnosis and effective treatment.

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Conflict of Interest

The authors declare that they have no conflict of interest.

  • References

  • 1 Tanaka M, Kataoka H, Joh T. Neurofibroma of the esophagus complicating Von Recklinghausenʼs neurofibromatosis. Am J Gastroenterol 2013; 108: 1935-1936
  • 2 Samat SH, Onyemkpa C, Torabi M. et al. Understanding esophageal neurofibroma: A case series and systematic review. Int J Surg Case Rep 2020; 76: 450-457

Correspondence

Dan Liu, MD
Department of Gastroenterology and Hepatology, The First Affiliated Hospital of Zhengzhou University
Jianshe East Road 1
450052 Zhengzhou
China   

Publication History

Article published online:
25 June 2024

© 2024. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. (https://creativecommons.org/licenses/by/4.0/).

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  • References

  • 1 Tanaka M, Kataoka H, Joh T. Neurofibroma of the esophagus complicating Von Recklinghausenʼs neurofibromatosis. Am J Gastroenterol 2013; 108: 1935-1936
  • 2 Samat SH, Onyemkpa C, Torabi M. et al. Understanding esophageal neurofibroma: A case series and systematic review. Int J Surg Case Rep 2020; 76: 450-457

Zoom Image
Fig. 1 a Cutaneous manifestations of neurofibromatosis observed during physical examination. b Upper endoscopy showing a mass originating from the lower esophagus to the gastric cardia. c Hypoechoic, submucosally-originating mass with multiple anechoic projections into the esophageal cavity, as revealed by endoscopic ultrasound. d Complete removal of the mass via endoscopic submucosal dissection. e The resected specimen. f Histological analysis confirming the presence of neurofibromatosis.