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Neurofibromatosis Type 1 Proteus Syndrome Prevalence Frequent (1 in 3000 to 1 in 4000 live births worldwide) Extremely rare (<1 in 1,000,000 live births worldwide) Equally prevalent in men and women Two men for every woman Gene NF1, chromosome 17 Unknown Transmission 50% hereditary (autosomal dominant) Sporadic 50% sporadic (de novo mutation) Postzygotic somatic mutation (embryonic lethal in nonmosaic form) Diagnostic criteria General Café-au-lait spots Mosaic distribution of lesions Neurofibromas Sporadic occurrence Axillary or inguinal freckling Progressive course Optic gliomas Lisch nodules Characteristic osseous lesion (sphenoid dysplasia, thinning of long bone cortex with or without pseudoarthrosis) First-degree relative with neurofibromatosis type 1 Other Cerebriform connective tissue nevus Linear epidermal nevus Asymmetric, disproportionate overgrowth Specific tumors before second decade Lipomas or focal atrophy of adipose tissue Capillary, venous, or lymphatic malformation Facial features including dolichocephaly, a long face, down-slanting palpebrae, ptosis, depressed nasal bridge, anteverted nares, and open-mouth position while at rest
