Topical Rapamycin Therapy to Alleviate Cutaneous Manifestations of Tuberous Sclerosis Complex
Abstract
Tuberous Sclerosis Complex (TSC) is a genetic disorder characterized by abnormal skin pigmentation and tumor formation in multiple organ systems. TSC affects 1 in 7000 individuals worldwide. Common symptoms of TSC include: learning disabilities, mental retardation, seizures, skin lesions, kidney tumors, lung disease, heart tumors, and brain tumors. Facial angiofibromas are benign skin tumors found on the faces of patients with TSC. The angiofibromatous lesions appear as red or pink papules distributed over the central face, most notably on the nasolabial folds, cheeks, and chin. Lesions appear in early childhood and are present in up to 80% of TSC patients. These facial lesions create considerable cosmetic morbidity for patients with TSC. Since the initial descriptions of facial angiofibromas in the 19th Century, multiple treatments have been developed attempting to alleviate the appearance of these lesions. Treatments have included curettage, cryosurgery, chemical peels, dermabrasian, shave excisions, and laser therapy. Although the majority of these treatments are initially effective, they are uncomfortable and over time the lesions recur. Currently there is no effective method for preventing or permanently removing facial angiofibromas in patients with TSC. This study is designed to see if an investigational product nightly to their lesions for six months. The goal of this study is to develop a form of rapamycin that will provide a safe, effective treatment for facial angiofibromas in patients with tuberous sclerosis complex.
Document Details
- Document Type
- Technical Report
- Publication Date
- Sep 01, 2013
- Accession Number
- ADA594150
Entities
People
- Mary K. Koenig
Organizations
- McGovern Medical School