Epidermolysis bullosa (EB) simplex is a rare orphan disease caused by a mutation in DNA leading to abnormal dominant keratins in the skin. Patients with EB simplex develop lifelong painful thick soles on their feet, and current standard of care is supportive. This pilot study will target the dominant mutant keratin proteins in the skin to ameliorate the severity of EB simplex. The purpose is to improve the function of EB simplex feet with an application of topical sirolimus, 2%. The investigators plan on inhibiting the mTOR pathway to down regulate the translation of defective keratin proteins and work through anti proliferative pathways.
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Foot Health Status Questionnaire, Foot Function Domain Score
Timeframe: Week 0 and week 12 of the respective treatment period
Foot Health Status Questionnaire, Physical Activity Domain Score
Timeframe: Week 0 and week 12 of the respective treatment period
Trough Concentration of Sirolimus
Timeframe: Week 12