Abstract
Facial angiofibromas are a common cutaneous manifestation of tuberous sclerosis complex. Although angiofibromas are usually asymptomatic, they can be highly disfiguring and can have a significant impact on patient quality of life. Treatment for facial angiofibromas is challenging. Recently, topical rapamycin has been proposed as an effective option to treat angiofibromas. Herein is reported a case of a 27-year-old woman whose facial angiofibromas were successfully treated with topical rapamycin without relevant side effects.
CASE REPORT
A 27-year-old woman with tuberous sclerosis complex presented with numerous facial angiofibromas on her nose and cheeks (Fig. 1a). She wanted to treat these disfiguring and disabling facial lesions that progressively increased in number and size over a period of 15 years. After the acquisition of informed consent, the patient was treated with rapamycin (1%) in white petrolatum ointment. She was instructed to apply the ointment to the affected areas every evening. After only 4 weeks, an improvement was noted, and, after 12 weeks, a marked regression of her angiofibromas was observed (Fig. 1b). The treatment was well tolerated, and, at 12 weeks, the serum level of rapamycin was undetectable.
Figure 1:
(a) Multiple facial angiofibromas on the nose and bilateral cheeks before treatment with topical rapamycin. (b) Marked regression of the patient’s angiofibromas after 12 weeks of treatment with topical rapamycin.
DISCUSSION
Tuberous sclerosis complex is an autosomal dominant disorder characterized by benign hamartomatous growths in multiple organs. Facial angiofibromas are a common cutaneous manifestation of tuberous sclerosis complex [1]. Although angiofibromas are usually asymptomatic, they can be highly disfiguring and may lead to significant psychosocial consequences for affected patients. Treatment for facial angiofibromas is challenging. Rapamycin inhibits the mammalian target of rapamycin (mTOR), which is a protein that is normally regulated by the products of the tumour suppressor genes TSC1 (hamartin) and TSC2 (tuberin), which are involved in tuberous sclerosis complex. Mutations in these genes result in mTOR activation, which leads to the formation of benign hamartomas of the internal organs and skin [2]. The molecular mechanisms by which rapamycin and other mTOR inhibitors decrease tumour size and number in tuberous sclerosis complex have only recently been partially understood. In addition to its recognized immunosuppressive effects, it is suggested that rapamycin may exert its therapeutic effect by decreasing production of the proangiogenic molecule vascular endothelial growth factor, which is implicated in cell proliferation [3]. Several topical formulations have been proposed for the skin lesions, however, the optimal topical formulation has not yet been determined.
CONFLICT OF INTEREST STATEMENT
None declared.
FUNDING
None.
ETHICAL APPROVAL
None required.
CONSENT
Written informed consent obtained from the patient.
GUARANTOR
Gilles Safa.
REFERENCES
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