Rare Diseases Symptoms Automatic Extraction

A case of esophageal complication in epidermolysis bulhosa simplex.

[epidermolysis bullosa simplex]

It is well known the involvement of the gastrointestinal tract in Epidermolysis Bulhosa (EB) and its consequences on both nutrition and growth. We present a case of a young girl with EB diagnosed soon after birth, admitted to our emergency room with food impactation. The endoscopy revealed a double barrel esophagus. No medical or surgical therapy was started and after 2 months of enteric feeding, spontaneous resolution was observed at endoscopy. Skin biopsy was compatible with EB Simplex. According to the literature EB Simplex is the subtype the least associated with GI tract involvement, presenting with dysphagia in only 2% of the patients, and with the lowest cumulative risk of esophageal stricturing.We present an unusual case of EB simplex involvement of the esophagus with spontaneous resolution of a false lumen, with clinical improvement of the patient.