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A Curious Case from Cairo  

This case was submitted by Dr. Mazen Naga of Cairo, Egypt and describes a man with dysphagia since birth, blistering of the skin after trauma, dystrophic nail changes, and membranous webs in the esophagus. Of course, more details would be helpful and, as Sherlock Holmes cried in The Adventure of the Copper Beaches “data, data, data...I can’t make bricks without clay.” Nonetheless, we have sufficient clay here to begin building.
The major blistering diseases that we as gastroenterologists might see the consequences of are pemphigus vulgaris, neoplastic pemphigus, pemphigoid, epidermolysis bullosa (EB) and, of course, dermatitis herpetiformis, which one can consider the cutaneous expression of a primarily gastrointestinal disease, celiac sprue.  Dysphagia since birth with blistering upon trauma is typical of EB. We usually see the acquisita variety in which the disease begins in adulthood, but manifestations are the same regardless of time of onset. The basis of EB is a mutation that miscodes the normal structures of the cutaneous basement membrane zone that attach the epidermis to the underlying dermis; a lack of stable association leads to cutaneous, and in this patient esophageal, fragility.
There are three main types of EB: simplex, junctional, or dystrophic. The most common GI manifestations include dysphagia, esophageal stricture or stenosis (not membranous webs as seen in this patient), pyloric stenosis, anal stricture, chronic constipation and fecal impaction. Oral erosions, premature dental caries and gingival involvement are also common. By the way, pemphigus is associated with esophagitis dissecans, which shares some features in the way the mucous membrane pulls off the subjacent layers with a biopsy forceps.  This is not to be confused with an endoscopic Nikolsky sign in esophageal pemphigus with stripping of apparently normal mucosa upon withdrawal of the forceps.
As for the nail changes, dominantly inherited dystrophic and junctional epidermolysis bullosa subtypes can result in nail dystrophy and loss. Such dystrophy also may be a result of malnutrition and can reflect onycholysis secondary to Candida. Similar changes are seen with Canada-Cronkheit disease, but that disease has no elements of the disorder of Dr. Naga’s patient.
Concluding points for the endoscopist: be careful, be cautious, be appropriate. Do no more than necessary and be gentle lest you render extreme trauma to the fragile oral and esophageal tissues.  Alert your anesthesia provider to be careful and gentle because the equipment used to deliver anesthesia and monitor vital signs may cause serious tissue injury. Dilation of strictures can be performed, and based on limited data, balloon technique may be preferable to conventional dilators. A bit of antacids or cytoprotective agents might also be of benefit but, again, bricks, bricks, bricks.....

Ask Larry Video

Do you have a nagging question about gastrointestinal endoscopy?  
Wondering about a particular technique or device? Unsure about a new procedure? Recently encounter a new or interesting endoscopic finding? NYSGE is pleased to present Ask Larry, where Dr. Larry Brandt, NYSGE past president, researcher, educator, and master endoscopist will provide answers to those difficult questions.  Don’t miss this opportunity to learn from an unparalleled expert!  Send your inquiries to info@nyse.org
In this article from the January 16, 2013 issue of Nature, Dr. Brandt comments on the first randomized clinical trial for treating recurrent C. difficile infections with fecal transplantation.

Lawrence J. Brandt, MD, MACG, AGAF, FASGE is Professor of Medicine and Surgery, Albert Einstein College of Medicine; and Emeritus Chief, Division of Gastroenterology, Montefiore Medical Center, Bronx, New York. His research interests include:
  •  ischemic and vascular disorders of the gastrointestinal system
  • inflammatory bowel diseases
  • colitis
  • geriatric gastroenterology
  • AIDS
  • endoscopic technique
Dr. Brandt’s long-standing major interests include the patient-doctor relationship and how the psychological makeup of patients influences their illnesses and treatment choices. His many contributions to the profession include:
  • the performance of the first non-operative gastric polypectomy
  • the demonstration that gastrointestinal bacteria produce cobamides from dietary vitamin B12 that may inhibit vitamin B12 absorption
  • that metronidazole can heal and maintain healing of perineal Crohn's disease
  • that most cases of newly diagnosed IBD in the elderly are actually ischemic colitis misdiagnosed as ulcerative or Crohn's colitis
  • the classification of ischemic colitis and description of its natural history
  • the first demonstration of laser-induced regression of Barrett's epithelium
  • the development of a patented cytology balloon to diagnose infectious esophagitis in AIDS patients
  • use of fecal transplantation to treat chronic and recurring C. difficile colitis