Topical Rapamycin for Fibrofolliculomas

Topical Rapamycin to Treat Fibrofolliculomas in Birt-Hogg-Dubé Syndrome

The purpose of the study is to determine whether topical application of rapamycin can lead to reduction in size and/or number of fibrofolliculomas in BHD patients and may prevent the growth of new ones. Secondary we evaluate rapamycin safety, formula acceptance and patient satisfaction.

Inclusion Criteria:

• Minimum age of 18 years.
• At least 10 facial fibrofolliculomas, histologically confirmed.
• Entered in a screening program and free of malignancy as determined during screening (already had a baseline MRI or CT-scan).
• Being able to understand instructions.
• Mutation status must be known.
• For females: not pregnant and willing to use both oral and barrier contraceptives during the treatment period.

Exclusion Criteria:

• Not capable of informed consent.
• Age under 18 years.
• Pregnancy or failure to comply with contraceptive measures.
• Proven or suspected malignancy of skin or other organs.
• No histological confirmation.
• Skin lesions other than fibrofolliculoma that might worsen under sirolimus such as active infections.
• Not able to comprehend instructions.
• No proven mutation.
• Less than 10 fibrofolliculomas.
• Planned facial surgery in the treatment period.
• Concomitant disease requiring systemic immunosuppressive treatment
• Concomitant disease requiring facial topical immunosuppressive treatment or facial topical drugs that interfere with rapamycin during trail period or in the 30 days before start trial.
• Tendency to form keloids or hypertrophic scars.
• Drug or alcohol abuse.