Abstract
Background
Tuberous sclerosis complex is a genetically determined multisystem disorder that may
affect almost any human organ. The discovery of the mammalian target of rapamycin
(mTOR) pathway and its involvement in tuberous sclerosis complex–related pathology
has led to the introduction of mTOR inhibitors into clinical practice. Topical administration
of mTOR inhibitors for skin lesions related to tuberous sclerosis complex may represent
a reasonable alternative for more invasive procedures. A growing number of patients
have been described exhibiting positive therapeutic effects from the topical administration
of these agents. The aim of this review was to systematically analyze available literature
on the use of topical mTOR inhibitors to treat dermatologic lesions related to tuberous
sclerosis complex.
Results
A comprehensive review of PubMed, Medscape, and Cochrane databases between 1995 and
2015 was performed to identify available studies describing topical use of mTOR inhibitors
in individuals with tuberous sclerosis complex. In most studies, topical mTOR inhibitor
application proved to be effective in the treatment of skin lesions related to tuberous
sclerosis complex. Facial angiofibromas were the target lesions in most instances.
Few studies reported clinical improvement of hypomelanotic macules. These drugs directly
address the molecular defect related to tuberous sclerosis complex manifestations.
Conclusions
Currently available clinical data suggest that topical application of mTOR inhibitors
may be effective in the treatment of facial angiofibromas associated with tuberous
sclerosis complex. Ongoing randomized clinical trials of topical mTOR inhibitors for
TSC-related cutaneous lesions should add clarity to the role of these agents.
Keywords
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Article info
Publication history
Published online: April 12, 2016
Accepted:
April 5,
2016
Received:
December 10,
2015
Identification
Copyright
© 2016 Elsevier Inc. All rights reserved.
