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File:IPLab5Neurofibromatosis7.jpg|This higher-power photomicrograph of the neurofibroma shows more clearly the elongated cells (primarily Schwann cells) that make up this tumor.
File:IPLab5Neurofibromatosis8.jpg|This is a high-power photomicrograph of the cells in the neurofibroma.
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== Study Questions ==* <spoiler text="What type of neurofibromatosis is this?">This is type 1 neurofibromatosis (von Recklinghausen disease). There is no eighth nerve involvement as is seen in Type 2 or acoustic neurofibromatosis.</spoiler>* <spoiler text="What is the significance of no positive family history in this patient with type 1 neurofibromatosis?">Neurofibromatosis type 1 is an autosomal dominant disorders with a frequency of almost 1 in 3000. The gene that causes neurofibromatosis type 1 has been mapped to chromosome 17q11. This gene encodes a protein called neurofibromin, which down-regulates the function of the p21 ras oncoprotein. Approximately 50% of affected patients have a definite family history consistent with autosomal dominant transmission, however, the remaining cases appear to be caused by new mutations. This case may represent a new mutation.</spoiler>* <spoiler text="What are the classic clinical features of neurofibromatosis type 1?">Although protean in its clinical expression, patients with neurofibromatosis usually have multiple neural tumors all over the body, numerous pigmented skin lesions (”café au lait“ spots), and pigmented iris hamartomas (also called Lisch nodules). Other common clinical manifestations include skeletal lesions (scoliosis, bone cysts, thinning of the cortex of long bones) and mild intellectual impairment.</spoiler>* <spoiler text="What is the etiology of the coagulopathy seen in this patient?">Liver failure.</galleryspoiler>
{{IPLab 5}}
[[Category: IPLab:Lab 5]]