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      About Skin Pharmacology and Physiology: 2.8 Impact Factor I 5.2 CiteScore I 0.623 Scimago Journal & Country Rank (SJR)

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      Treatment of Angiofibromas in Tuberous Sclerosis Complex: The Effect of Topical Rapamycin and Concomitant Laser Therapy

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          Abstract

          Facial angiofibromas are the most troublesome cutaneous manifestations of the tuberous sclerosis complex and are difficult to treat. Lasers are most commonly used to treat these skin lesions, but results are disappointing with frequent recurrences. Recently, treatment of facial angiofibromas with topical rapamycin has been reported to yield promising results. We observed the need of laser ablation in addition to topical rapamycin to get best results for the treatment of angiofibromas in 4 cases. The result showed that topical rapamycin ointment was enough when the papules were yet small in size, i.e. less than a few millimeters, but additional laser ablation was needed for large papules approximately larger than 4 mm. Considering the natural course of facial angiofibromas, we believe that topical rapamycin can be best used in childhood patients. In adults, topical rapamycin was useful for treating the still present small papules and for preventing recurrences after laser treatment.

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          Tuberous sclerosis complex: advances in diagnosis, genetics, and management.

          Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem neurocutaneous syndrome characterized by the development of multiple hamartomas distributed throughout the body, skin, brain, heart, kidneys, liver, and lungs. Two-thirds of patients represent sporadic mutations. The classic triad is seizures, mental retardation, and cutaneous angiofibromas. However, the full triad occurs in only 29% of patients; 6% of them lack all three of them. Two tumor suppressor genes responsible for TSC have been identified: TSC1 gene on chromosome 9 and TSC2 on chromosome 16. This article highlights the most recent significant advances in the diagnosis and genetics of TSC, along with a discussion on the limitations and the usefulness of the revised 1998 clinical criteria for the tuberous sclerosis complex. The "ash leaf" macule often comes in other shapes, such as round; most are polygonal, usually 0.5 cm to 2.0 cm in diameter, resembling a thumbprint. Since the death of its describer, Thomas Fitzpatrick, we call each a "Fitzpatrick patch." Special attention is paid in this work to TSC treatment options, including therapeutic trials with rapamycin, also known as sirolimus. After completing this learning activity, participants should familiar with tuberous sclerosis complex, its cutaneous signs and systemic findings stratified by patient age, its genetics, and the potential for meaningful therapeutic intervention.
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            Topical Rapamycin Therapy to Alleviate the Cutaneous Manifestations of Tuberous Sclerosis Complex

            Background and Objectives Facial angiofibromas are disfiguring facial lesions, present in up to 80% of patients with tuberous sclerosis complex. Recent elucidation of the complex cell signaling pathways that are disrupted in tuberous sclerosis indicates that rapamycin may be successful in alleviating the appearance of these lesions. The objectives of the current study were to evaluate the safety of topically applied rapamycin in patients with tuberous sclerosis complex and to determine its potential effectiveness in treatment of facial angiofibromas. Patients and Methods The study was a prospective, randomized, double-blind, placebo-controlled study performed at the University of Texas Health Science Center at Houston. Study subjects were recruited from the patient populations at the University of Texas Tuberous Sclerosis Center of Excellence. All subjects were over the age of 13 years and had a diagnosis of tuberous sclerosis complex. Subjects were excluded if they were using any form of rapamycin or if they were pregnant. Study subjects applied the study product to their facial angiofibromas nightly for a duration of 6 months. The investigational product contained one of three doses of rapamycin compounded with Skincerity®: (i) no rapamycin; (ii) 1 mg of rapamycin per 30 cc (0.003%); or (iii) 5 mg of rapamycin per 30 cc (0.015%). Plasma rapamycin concentrations were measured monthly to test for systemic absorption. Complete blood counts were performed monthly to test for anemia, neutropenia, or thrombocytopenia. Upon completion of the trial, subjects were asked if the formulation had improved the appearance of their facial angiofibromas. Results Twenty-three subjects completed the study. There was no detectable systemic absorption of rapamycin (all blood concentrations were <1.0 ng/mL). There were no significant changes in white blood cell, red blood cell, or platelet counts. Seventy-three percent of subjects in the treatment arms versus 38% of subjects in the placebo arm reported a subjective improvement in the appearance of their facial angiofibromas. Conclusion The application of low-dose topical rapamycin (0.003–0.015%) to the face can safely decrease the appearance of facial angiofibromas in patients with tuberous sclerosis complex. Trial Registration ClinicalTrials.gov Identifier: NCT01031901
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              Topical rapamycin: a novel approach to facial angiofibromas in tuberous sclerosis.

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                Author and article information

                Journal
                DRM
                Dermatology
                10.1159/issn.1018-8665
                Dermatology
                S. Karger AG
                1018-8665
                1421-9832
                2014
                February 2014
                21 December 2013
                : 228
                : 1
                : 37-41
                Affiliations
                aDepartment of Dermatology, Chonbuk National University Medical School, and bResearch Institute of Clinical Medicine of Chonbuk National University, Biochemical Research Institute of Chonbuk National University Hospital, Jeonju, South Korea
                Author notes
                *Jin Park, MD, Department of Dermatology, Chonbuk National University Medical School, 20, Geonji-ro (Geumam-dong), Deokjin-gu, Jeonju 561-712 (South Korea), E-Mail airmd@jbnu.ac.kr
                Article
                357033 Dermatology 2014;228:37-41
                10.1159/000357033
                24401865
                7a50c136-a6eb-44ac-b72e-63ff43e4f213
                © 2013 S. Karger AG, Basel

                Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher. Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug. Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.

                History
                : 26 September 2012
                : 04 November 2013
                Page count
                Figures: 3, Tables: 2, Pages: 5
                Categories
                Case Report

                Oncology & Radiotherapy,Pathology,Surgery,Dermatology,Pharmacology & Pharmaceutical medicine
                Facial angiofibromas,Tuberous sclerosis complex,Laser,Topical rapamycin

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