Topical sirolimus as an effective treatment for a deep neurofibroma in a patient with neurofibromatosis type I

Abstract

Neurofibromatosis type I (NF1) is an autosomal dominant condition caused by mutations in the tumor suppressor NF1-encoded protein, neurofibromin, which normally negatively regulates the mammalian target of rapamycin (mTOR) pathway. Such mutations clinically lead to the development of a variety of tumors including cutaneous neurofibromas (NFs), plexiform neurofibromas, and malignant peripheral nerve sheath tumors. 1 Sirolimus, which inhibits the mTOR pathway, has been shown to be effective in managing tumor size and associated symptoms of plexiform neurofibromas (PNs) in patients with NF1. 2-4 Abstract A 14-year-old boy with neurofibromatosis type I (NF1) presented with a painful neurofibroma on his right palm. The lesion was treated with topical sirolimus, resulting in decreased size and pain and improvement in motor function of his hand. This case demonstrates the efficacy of topical sirolimus in the management of neurofibromas in NF1. K E Y W O R D S neurofibroma, neurofibromatosis type 1, sirolimus | 361 Pediatric Dermatology MALHOTRA eT AL.

Topical sirolimus: Difference between compounded preparations and commercial oral solution

“…Formulations with sirolimus (rapamycin) are used for the topical treatment of skin lesions such as angiofibromas, 1 superficial vascular anomalies, 2 multiple trichoepitheliomas, 3 pachyonychia congenita-associated plantar keratoderma, 4 benign cephalic histiocytosis, 5 acanthosis nigricans in the setting of fibroblast growth factor receptor 3 (FGFR3) mutation, 6 neurofibromas, 7 confluent and reticulated papillomatosis (CARP), 8 and Kaposi's sarcoma. 9 To date, there is no FDA-approved formulation or indication for topical sirolimus.…”