Death from colonic disease in epidermolysis bullosa dystrophica

Abstract

Background: Squamous cell carcinomas and renal failure were reported the causes of death in patients with recessive dystrophic epidermolysis bullosa (RDEB). Death from colonic disease in epidermolysis bullosa (EB) is never reported.

Case presentation: We demonstrate a male patient with RDEB. He suffered megacolon due to fecal impaction and died from sigmoid colon perforation with peritonitis at age 35 years.

Conclusion: Constipation is a common clinical feature of RDEB, but fetal complications of chronic constipation are rarely reported. To the author's best knowledge, it has not been reported or recognized in the English literature previously. The aggressive assessment of constipation with fecal impaction is recommended in patients with RDEB.

Figure 1

(A) Computed tomography (CT) of abdomen showed extra-luminal free air in the peritoneal cavity (white arrow), and marked distension of colonic loop with fecal impaction (black arrow). (B) Fecal impaction with marked colon distention was noted in the distal sigmoid colon (black arrow).