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NEUROFIBROMATOSIS TYPE 1

Therapeutic Approach

Neurofibromatosis Type 1 is a neurocutaneous disorder characterized by a susceptibility to tumor development, including cutaneous neurofibroma (cNF), plexiform neurofibroma (pNF), and malignant peripheral nerve sheath cell tumor (MPNST). Initial evaluation of NF1 patients should include whole-body MRI neurography to assess for underlying pNF and possible MPNST development.1 Treatment requires a multidisciplinary team of dermatologists, neurologists, ophthalmologists, geneticists, and occasionally oncologists. Individuals with NF1 most often identify their dermatologic conditions, specifically cNF, as their greatest burden within this complex syndrome.2 Rapid, clinical procedural therapy for cNF has been shown to reduce symptom burden (i.e. pain and itching), improve cosmesis, and improve quality of life in patients with NF1.3 PNFs develop in more than 50% of NF1 patients and can cause significant physical disfigurement and debilitation when the tumor impinges on surrounding structures. Therapy for pNF is primarily surgical but medical therapy can reduce their size. Evaluation of pNF for new severe pain, rapid growth, texture changes (i.e. induration), or new neurological deficits should immediately prompt investigation for potential malignant transformation to MPNST.4 Evidence of MPNST with MRI imaging and tissue pathology necessitates referral to medical, and surgical oncology for surgery and medical management.5-7 See Table 120-1.

Table 120-1Neurofibromatosis Type 1 Treatment Table

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