Quality-of-Life Impairment in Neurofibromatosis Type 1

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Abstract
NEUROFIBROMATOSIS type 1 (NF1) is a common human genetic disease with an incidence of about 1 in 2500 to 3300, an autosomal dominant mode of inheritance, and a high rate of new mutations. Multiple brown skin macules or darkened spots (café au lait spots), intertriginous freckling, iris hamartomas (Lisch nodules), and multiple cutaneous neurofibromas characterize NF1,1 which can be associated with optical gliomas, spinal and peripheral nerve neurofibromas, neurologic or cognitive impairment, scoliosis and other bone abnormalities, malignant tumors of the nerve sheath, and pheochromocytoma.2 Thus, NF1 has a major adverse effect on patients' lives through severe complications, adverse effects on cosmetic features, and the uncertainty of the effects of the disorder. Although the morbidity and the mortality caused by NF1 are dictated by the occurrence of these complications, which may involve any of the body systems, patients perceive cosmetic disfigurement as the major clinical problem.3,4 The severity of NF1 can be scored using the Riccardi scale,5 and the visibility of the disease with the scale developed by Ablon.3