Key signs and symptoms of NF1 Café-au-lait spots and intertriginous freckling (Figure 53.1A) Café-au-lait spots are flat, pigmented macules, and are gener- ally the first cutaneous manifestation of NF1. Often present at birth, they become apparent during the first few years of life. ...
Purpose Neurofibromatosis type 1 (NF1), also known as von Recklinghausen disease, is a multisystem disease with cutaneous symptoms occurring from birth to adulthood. It is a disorder with multiple malformations and tumors involving the skin, nervous system, and skeleton. The purpose of this report...
SYMPTOMSGLIOMASDNA analysisVISION disordersSURGICAL excisionMOLECULAR diagnosisPurpose: Optic pathway gliomas (OPGs) occur in 15% of patients with neurofibromatosis type 1 (NF1). Their location renders biopsy or surgical resection difficult because of the risk of vision loss. Therefore, only a few NF...
SYMPTOMSOPTICAL coherence tomographyVISUAL pathwaysNEUROCUTANEOUS disordersEYELIDSNeurofibromatosis type 1 (NF1) is a rare inherited neurocutaneous disorder with a major impact on the skin, nervous system and eyes. The ocular diagnostic hallmarks of this disease include iris Lisch nodules, ocular and ...