TY - CHAP M1 - Book, Section TI - The Neurofibromatoses A1 - Listernick, Robert A1 - Charrow, Joel A2 - Kang, Sewon A2 - Amagai, Masayuki A2 - Bruckner, Anna L. A2 - Enk, Alexander H. A2 - Margolis, David J. A2 - McMichael, Amy J. A2 - Orringer, Jeffrey S. PY - 2019 T2 - Fitzpatrick's Dermatology, 9e AB - AT-A-GLANCEAutosomal dominant condition with incidence of 1 in 3000 live births.Diagnosed clinically if 2 major features are present (see Table 135-1).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.Mosaic neurofibromatosis Type 1 (segmental NF-1):Manifestations of NF-1, usually limited to one area of the body.Occurs as result of a postconceptional mutation in the NF1 gene, leading to somatic mosaicism. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/10/11 UR - accessmedicine.mhmedical.com/content.aspx?aid=1161349237 ER -