Nausicaa Malissen1, Laurence Vergely2, Marguerite Simon2, Agathe Roubertie3, Marie-Claire Malinge4, Didier Bessis5. 1. Department of Dermatology, Saint-Eloi Hospital and Montpellier University Hospital, Montpellier, France. 2. Department of Clinical Pharmacy and Oncology, Lapeyronie Hospital, Montpellier, France. 3. Department of Neuropediatric and Regional Center of Competence of Tuberous Sclerosis, Gui de Chauliac Hospital, Montpellier, France. 4. Department of Molecular Genetics, Angers University Hospital, Angers, France. 5. Department of Dermatology, Saint-Eloi Hospital and Montpellier University Hospital, Montpellier, France; Institut National de la Santé et de la Recherche Médicale (INSERM) U1058, Montpellier, France; Regional Center of Competence for Rare Skin Disorders, Montpellier, France. Electronic address: didierbessis@gmail.com.
Abstract
BACKGROUND: Data on long-term topical sirolimus treatment of the cutaneous manifestations of tuberous sclerosis complex are rare. OBJECTIVE: To evaluate the long-term benefit and tolerance of topical 1% sirolimus in tuberous sclerosis complex. METHODS: In this 18-month prospective single-center study, 1% sirolimus cream was applied daily to facial angiofibromas (FAs), fibrous cephalic plaques (FCPs), shagreen patches, hypomelanotic macules, and ungual fibromas. After complete clearance (CC) of FAs, we evaluated a maintenance protocol of 3 applications weekly. RESULTS: Twenty-five patients were enrolled. Fifty percent obtained CC of FAs within 9 months. Of 7 patients with CC (58%) who were following the maintenance protocol, 6 relapsed within 7 months and 1 was still responding at 1 year. Of 16 patients with FCPs, 7 (44%) remained stable at 12 months and 9 (56%) improved after 3 to 9 months of treatment. Only 1 of 5 patients treated for shagreen patches showed improvement at 12 months. Treatment was well tolerated with no serious adverse events. LIMITATIONS: The small number of patients was a limitation. CONCLUSIONS: Topical 1% sirolimus applied daily produced positive responses in treatment of FAs, FCPs, and facial hypomelanotic macules and was well tolerated. A 3-times-weekly maintenance protocol did not prevent FA relapses.
BACKGROUND: Data on long-term topical sirolimus treatment of the cutaneous manifestations of tuberous sclerosis complex are rare. OBJECTIVE: To evaluate the long-term benefit and tolerance of topical 1% sirolimus in tuberous sclerosis complex. METHODS: In this 18-month prospective single-center study, 1% sirolimus cream was applied daily to facial angiofibromas (FAs), fibrous cephalic plaques (FCPs), shagreen patches, hypomelanotic macules, and ungual fibromas. After complete clearance (CC) of FAs, we evaluated a maintenance protocol of 3 applications weekly. RESULTS: Twenty-five patients were enrolled. Fifty percent obtained CC of FAs within 9 months. Of 7 patients with CC (58%) who were following the maintenance protocol, 6 relapsed within 7 months and 1 was still responding at 1 year. Of 16 patients with FCPs, 7 (44%) remained stable at 12 months and 9 (56%) improved after 3 to 9 months of treatment. Only 1 of 5 patients treated for shagreen patches showed improvement at 12 months. Treatment was well tolerated with no serious adverse events. LIMITATIONS: The small number of patients was a limitation. CONCLUSIONS: Topical 1% sirolimus applied daily produced positive responses in treatment of FAs, FCPs, and facial hypomelanotic macules and was well tolerated. A 3-times-weekly maintenance protocol did not prevent FA relapses.
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