Abstract Title:

Improvement of renal function in epidermolysis bullosa patients after gluten free diet: two cases.

Abstract Source:

Eur Rev Med Pharmacol Sci. 2012 Oct ;16 Suppl 4:138-41. PMID: 23090831

Abstract Author(s):

G Annicchiarico, M G Morgese, L Brunetti, M Tampoia, L Garofalo, G Aceto, T Fiore, S Mauro, M Minelli

Article Affiliation:

Regional Coordination for Rare Diseases, Ares Puglia, Bari, Italy. [email protected]


Epidermolysis bullosa (EB) is a rare inherited genetic disease characterized by an abnormal response of the skin and mucosa to mechanical trauma. Dystrophic EB (DEB) is very often associated with many extra cutaneous complications. Those complications involve either epithelial associated tissues or other organs. In particular, several renal complications have been described for DEB in the recessive form, such as amyloidosis, post-infection glomerulonephritis, upper and lower urinary tract obstruction and IgA-Nephropathy (IgAN). In the cases reported below we have two patients diagnosed with DEB that showed compromised renal function and proteinuria. The switch of the normal diet toward a gluten free diet resulted beneficial for both patients, since renal function was rescued and proteinuria cured. Moreover, a general health status improvement was recognised, given that nutritional condition was ameliorated and bone growing enhanced. Furthermore, in both patients the presence of autoantibodies anti-COL7 indicating an autoimmune form of the disease. Therefore, patients received low doses of betametasone useful to reduce inflammatory state and to control immune system function. In conclusion, our results prompt us to hypothesized that in these patients, due to the fragility of the intestinal mucosa, the absence in the diet of gluten may be beneficial.

Study Type : Human: Case Report

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Sayer Ji
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