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Tuberous sclerosis complex skin tumors respond to oral sirolimus

Tuberous sclerosis complex skin tumors improved with oral sirolimus treatment and maintained improvement for up to 64 months of treatment, according to recently published study results.

Researchers conducted a retrospective analysis of 14 women (median age, 36 years) with tuberous sclerosis complex (TSC) who were prescribed oral sirolimus for treatment of lymphangioleiomyomatosis. The women were enrolled at the NIH Clinical Center, Bethesda, Md.

Physician Global Assessment of Clinical Condition (PGA) was used to conduct blinded scoring of photographs of angiofibromas, shagreen patches and ungual fibromas taken before and after treatment. Tissue samples of the skin tumors were gathered before and during treatments, and microscopic and molecular studies performed.

Angiofibromas significantly improved with sirolimus (median treatment duration 12 months; median PGA score 4.5; Wilcoxon signed rank test, P = .018) as did shagreen patches (median treatment duration 10 months; median PGA score 4.5; Wilcoxon signed rank test; P = .039). Some patients displayed improvement in ungual fibromas (median treatment duration 6.5 months; median PGA score 4.66; Wilcoxon signed rank test, P = .109).

Evidence of resistance during long-term therapy up to 64 months was not observed.

“All but one treated patient demonstrated improvement in at least one skin lesion type and no patient worsened during treatment,” the researchers wrote. “Unexpectedly, angiofibromas did not seem to worsen after treatment cessation.”

“Oral sirolimus is an effective long-term therapy for [tuberous sclerosis complex] skin tumors, particularly angiofibromas, in patients for whom systemic treatment is indicated,” the researchers concluded. “For patients with troublesome skin tumors only, topical sirolimus and more recently, topical everolimus may be effective but are still under investigation.” – By Bruce Thiel

Disclosure: The researchers report no relevant financial disclosures.