TY - CHAP M1 - Book, Section TI - Neurofibromatosis Generalisata A1 - Bissonnette, Bruno A1 - Luginbuehl, Igor A1 - Engelhardt, Thomas PY - 2019 T2 - Syndromes: Rapid Recognition and Perioperative Implications, 2e AB - Phakomatoses are multisystem disorders that primarily affect the skin and the CNS. Part of the RASopathies. Neurofibromatosis (NF) Type I (NF-I), also called von Recklinghausen disease, is a rare genetic disorder characterized by the development of multiple neurofibromas of the nerves and skin. The presence of café-au-lait spots on the skin of the trunk and other regions, as well as freckling, particularly in the axillary region and in the inguinal area is a characteristic. Often evident by age 1 year, the café-au-lait spots tend to increase in size and number over time. At birth or early childhood, plexiform neurofibromas may be present. Benign tumor-like nodules of the colored regions of the eyes (Lisch nodules) may be present. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/29 UR - accessanesthesiology.mhmedical.com/content.aspx?aid=1164080218 ER -