RT Book, Section 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. SR Print(0) ID 1161349237 T1 The Neurofibromatoses T2 Fitzpatrick's Dermatology, 9e YR 2019 FD 2019 PB McGraw-Hill Education PP New York, NY SN 9780071837798 LK accessmedicine.mhmedical.com/content.aspx?aid=1161349237 RD 2024/10/11 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.