Esophageal Stenosis - a Notable Complication of Epidermolysis Bullosa - case report

Roxana–Mihaela Balcan, Irina–Liviana Stoian, Gabriela Paduraru, Ancuta Ignat, Marin Burlea


Epidermolysis bullosa is a rare condition caused by a genetic defect of the anchoring proteins between the epidermis and the dermis with an incidence of 1/50000. A 2 years and 7 months old, male infant was admitted in the Gastroenterology department of the pediatric hospital for severe dysphagia, the physical exam revealing skin lesions, scarring and nail abnormalities suggestive for Epidermolysis bullosa. The upper gastrointestinal endoscopy revealed a friable mucosa with ulcerative injuries and a severe esophageal stenosis. Epidemolysis bullosa, a condition involving mostly the skin can also be associated with severe mucosal injury that may cause serious medical complications.


esophageal stenosis, Epidermolysis bullosa, mucosal lesions, blisters

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Surasak P. Pediatric Epidermolysis Bullosa. Medscape Drugs & Diseases, 2013, [ available at 9.09.2014]

Sawamura, Nakano H, Matsuzaki Y. Overview of Epidermolysis Bullosa. J Dermatol 2010; 37(3):214–219.

Karakan T, Dogan I, Cindoruk M, et al. Fluoroscopically guided endoluminal balloon dilation of oesophageal stricture due to dystrophic epidermolysis bullosa in two sisters. Acta Gastroenterol Belg 2006; 69(Suppl.03):327–329.

Salavastru M, Sprecher E, Panduru M, et al. Recommended strategies for epidermolysis bullosa management in Romania. MAEDICA – J Clin Med 2013; 8(2):200-205.

Duijsters C, Halbertsma F, Kornelisse R, Arents N, Andriessen P. Reccuring staphyloccocal scalded skin syndrome in a very low birth weight infant: a case report. Journal of Medical Case Reports 2009; 3:7313.

Hsu C, Wang SP, Yu-Yun Lee J, McGrath J. Treatment of Hereditary Epidermolysis Bullosa: Updates and Future Prospects. Am J Clin Dermato 2014; 15(1):1-6.

Mrinkovich P. Epidermolysis Bullosa. Medscape Drugs & Diseases, 2013, [ available at 9.09.2014].


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