Neurofibromatosis 1: Diagnosis and Management

Establishing the diagnosis neurofibromatosis type 1: A rare case

“…The diagnosis NF-1 was made according to the presence of two or more diagnostic criteria of the National Institute of Health Consensus Development Conference (Table 1). [1][2][3][4][5][6][7] In this case, we found 4 point indicates as neurofibromatosis. The café-au-lait macule with more than 0,5 cm in diameter is one of the seven cardinal diagnostic criteria of NF1 was found in this case more than six.…”

“…2 NF1 is diagnosed through clinical assessment including a thorough history and physical examination using National Institute of Health Consensus Development Conference criteria. 2,3 The seven diagnostic features recognized at this conference, and the recommendation that two or more of these seven features be present before a diagnosis of NF-1 is stablished. 4 Neurofibromatosis type 1 manifest as not only cutaneous but also affect nearly every organ system.…”

“…About 95% individuals with NF-1 shows café au lait spots, and 50% have plexiform neurofibromas. 2 Despite the identification of the NF-1 gene and its complete sequencing, the diagnosis of NF-1 remains primarily a clinical one. 4…”

Psychosocial Features of Neurofibromatosis Type 1 in Children and Adolescents

“…2 Approximately half of the cases of NF1 are caused by spontaneous genetic mutations, the others being related to inheritance. 3 NF1 has no particular association with race or sex. 3…”

Caring for the Pediatric Neurofibromatosis Type-1 Patient

“…concepts (Camak, 2016). Considering the prevalence and complexity of NF1, it is likely that nurses will encounter patients with NF1 at some point throughout their careers (Julian, Edwards, DeCrane, & Hingtgen, 2014). Those nurses with a generalized sense of current NF1 education may be better equipped to identify children with NF1, obtain a family history, conduct pertinent physical and development assessments, and provide the family with basic genetic information and psychosocial support (Lessick & Anderson, 2000).…”