Death from colonic disease in epidermolysis bullosa dystrophica

Chih-Hsin Hsieh,Che-Jen Huang,Gau-Tyan Lin

doi:10.1186/1471-5945-6-2

Chih-Hsin Hsieh, Che-Jen Huang + Show 1 more

Open Access

https://doi.org/10.1186/1471-5945-6-2

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Abstract

BackgroundSquamous 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 presentationWe 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.ConclusionConstipation 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.

Highlights

Squamous cell carcinomas and renal failure were reported the causes of death in patients with recessive dystrophic epidermolysis bullosa (RDEB)
The aggressive assessment of constipation with fecal impaction is recommended in patients with RDEB
The dystrophic forms are characterized by tissue cleavage below the lamina densa on the dermal side of the cutaneous basement membrane zone at the level of the anchoring fibrils resulting from mutations in COL7A1, the gene encoding type VII collagen[6,7,8,9]

Summary

Conclusion

Gastrointestinal manifestations of epidermolysis bullosa comprise dysphagia, esophageal stricture, growth failure like esophageal web, constipation and anal lesions[1215]. They are most common seen in recessive dystrophic epidermolysis bullosa (RDEB), but may arise in dominant dystrophic epidermolysis bullosa (DDEB), junctional epidermolysis bullosa (JEB) and epidermolysis bullosa simplex (EBS) [6,13,15]. Constipation with fecal impaction is a common problem in patients with RDEB[6,12,14,15] These patients are at the increased risk for developing constipation due to limited oral intake, low fiber intake, anal lesions and excessive loss of fluid through the skin.

Background

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