neurofibromatosis Type 1

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A young adult with multiple dermal neurofibromas of the trunk.  Note also a cafe-au-lait spot in the right upper abdomen.

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This picture shows a body with several neurofibromas.

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Seen here are multiple nodules on the skin surface of the forearm and hand of a patient with neurofibromatosis. The yellow-orange staining of the skin is betadine solution applied in surgery, as this is an amputation specimen. A neurofibrosarcoma was present in the deep soft tissue of the wrist.

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Microscopically, the skin overlying a neurofibroma may show some hyperpigmentation, but the actual lesion is in the dermis. The neurofibroma consists of bundles of wavy spindle cells with a lot of intervening pink collagen.

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At higher magnification, the neurofibroma is seen to have elongated wavy cells with small dark oblong nuclei. This lesion is benign. However, persons with neurofibromatosis have a long-term risk for development of malignant neoplasms: neurofibrosarcomas, malignant schwannomas, gliomas.

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Close-up of a cutaneous neurofibroma surrounding by freckles in an individual with neurofibromatosis type 1.

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A cluster of Lisch nodules (blue arrowhead) and a freckle (red arrowhead) in the iris of an individual with neurofibromatosis type 1.

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