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Inside Collection (Textbook): Images of Memorable Cases: 50 Years at the Bedside
The most common type of neurofibromatosis, affecting about one in 5,000 people. Diagnostic criteria for this autosomal dominant disorder include at least two of the following: 1) six or more café-au- lait spots larger than 5mm in diameter in children and larger than 15mm in teenagers and adults; 2) at least two neurofibromas of any type or one plexiform neurofibroma; 3) freckling in the inguinal or axillary regions; 4) optic nerve glioma; 5) two or more iris hamartomas (Lisch nodules); 6) a distinct osseous lesion; and 7) a first-degree relative (parent, sibling, or child) with type 1 neurofibromatosis.
The 45-year-old patient shown had café-au- lait spots noted at birth and neurofibromas noted during puberty. Her mother had similar findings.
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This work is licensed by Herbert L. Fred, MD and Hendrik A. van Dijk under a Creative Commons Attribution License (CC-BY 2.0), and is an Open Educational Resource.
Last edited by Frederick Moody on Dec 3, 2008 10:16 pm -0600.
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