Management of cutaneous neurofibroma: current therapy and future directions

Abstract

Neurofibromatosis type 1 (NF1) is a life-long neurocutaneous disorder characterized by a predisposition to tumor development, including cutaneous neurofibroma (cNF), the hallmark of the disease. cNF is a histologically benign, multicellular tumor formed in virtually most individuals with NF1. It is considered the most burdensome feature of the disorder due to their physical discomfort, cosmetically disfiguring appearance, and psychosocial burden. Management of cNF remains a challenge in the medical field. Effective medicinal treatment for cNF does not exist at this time. Trials aimed at targeting individual components of the neoplasm such as mast cells with Ketotifen have not shown much success. Physical removal or destruction has been the mainstay of therapy. Surgical removal gives excellent cosmetic results, but risk in general anesthesia may require trained specialists. Destructive laser such as CO2 laser is effective in treating hundreds of tumors at one time but has high risk of scarring hypopigmentation or hyperpigmentation that alter cosmetic outcomes. A robust, low-risk surgical technique has been developed, which may be performed in clinic using traditional biopsy tools that may be more accessible to NF1 patients worldwide than contemporary techniques including Er:YAG or Nd:YAG laser. In this review, specific recommendations for management of cNFs are made based on symptoms, clinical expertise, and available resources. Additionally, antiproliferative agents aimed at stimulating cellular quiescence are explored.

Cutaneous Findings in Neurofibromatosis Type 1

“…Surgical removal, laser ablation, modified biopsy removal, photocoagulation, electrodessication and radiofrequency ablation are the modalities that have been developed. Camouflage and moisturizers may also provide some relief for patients [ 34 ]. In a previous study, topical imiquimod has shown some volume reduction.…”

Solitary neurofibroma over lower lip: A rare manifestation

“…If admixed with nerves, preservation of nerve is of utmost importance. [ 9 10 ] Recently, FDA has approved Selumetinib (MEK inhibitor) for symptomatic neurofibromas.…”

Neurofibromatosis: Molecular Pathogenesis and Natural Compounds as Potential Treatments

“…First presenting with hyperpigmentation-like cafe-au-lait macules and freckling in afflicted patients, the hallmark of NF1 is the development of neurofibromas, benign tumors composed of an admixture of dysplastic Schwann cells and stromal cells, including fibroblasts, mast cells, and perineural cells embedded in a collagenous extracellular matrix (ECM). Nearly all NF1 patients develop cutaneous neurofibromas (CNFs, or dermal neurofibroma), which arise along superficial nerves and are confined to the cutaneous tissues (6). CNFs can cause itching and pain.…”

“…For current NF1 treatment, surgical excision of CNFs can be performed when symptomatic (6). Surgical removal of PNFs is more challenging because they are more diffuse and involve multiple nerve roots.…”

“…It should be emphasized that although NF1-, NF2-, and schwannomatosis-related tumors have distinct genetic origins, they share downstream activation of several molecular targets (1,2,6,16,25,52). Collectively, these deregulated signaling pathways due to tumor suppressor loss in NF-associated tumors provide several targets for therapeutic development.…”