TY - CHAP M1 - Book, Section TI - Chapter 141. The Neurofibromatoses A1 - Listernick, Robert A1 - Charrow, Joel A2 - Goldsmith, Lowell A. A2 - Katz, Stephen I. A2 - Gilchrest, Barbara A. A2 - Paller, Amy S. A2 - Leffell, David J. A2 - Wolff, Klaus PY - 2012 T2 - Fitzpatrick's Dermatology in General Medicine, 8e AB - |PrintNeurofibromatosis Type 1 at a GlanceAutosomal dominant condition with incidence of 1 in 3,000 live births.Diagnosed clinically if two major features are present (see Table 141-1).Cutaneous neurofibromas:Softer than the surrounding connective tissue and protrude just above the skin surface or lie just under the skin with an overlying violaceous hue.Subcutaneous neurofibromas:Arise from peripheral nerves, both under the skin and deep in the viscera.Generally much harder.Plexiform neurofibromas:Generally present at birth or apparent during the first several years of life.May lead to disfigurement, blindness (secondary to amblyopia, glaucoma, or proptosis), loss of limb function, or organ dysfunction by compression of vital structures.Segmental neurofibromatosis type 1 (NF-1):Manifestations of NF-1, usually limited to one area of the body.Occurs as result of a postconceptional mutation in the NF-1 gene, leading to somatic mosaicism. SN - PB - The McGraw-Hill Companies CY - New York, NY Y2 - 2024/04/18 UR - accessmedicine.mhmedical.com/content.aspx?aid=56070287 ER -