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IPLab:Lab 5:Neurofibromatosis

959 bytes added, 19:29, 8 July 2020
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== Clinical Summary ==
This A 45-year-old divorced white male came to the emergency room with severe hepatic cirrhosis and aspiration pneumonia. Shortly after admission he developed cardiac arrhythmias and died. Significant past history included alcohol abuse, cirrhosis, and neurofibromatosis. He had no family history of neurofibromatosis, but his condition was diagnosed at age 17 when he developed neurofibromas along the lateral chest wall. There was no history of continued follow-up after this initial diagnosis.
== Autopsy Findings ==The patient was covered with variably sized subcutaneous nodules ranging from 0.5 to 2.5 cm in diameter. Other significant findings included micronodular hepatic cirrhosis (liver weight: 1760 grams), ascites (500 ml), and splenomegaly (weight: 260 grams).
== Images ==
<gallery heights="250px" widths="250px">
File:IPLab5Neurofibromatosis1IPLab5Neurofibromatosis1b.jpgJPG|This photograph, taken at autopsy, demonstrates the distribution of neurofibromas on the skin of this patient. File:IPLab5Neurofibromatosis2IPLab5Neurofibromatosis2b.jpgJPG|This is another view taken at autopsy demonstrating the neurofibromas. Some lesions can be seen as subcutaneous swellings (arrow) and others form pedunculated masses. Most are hyperpigmented. File:IPLab5Neurofibromatosis3IPLab5Neurofibromatosis3b.jpgJPG|This is a closer view of neurofibromas on the skin.
File:IPLab5Neurofibromatosis4.jpg|This is a low-power photomicrograph of a subcutaneous neurofibroma (1). Note the increased pigmentation in the skin (2).
File:IPLab5Neurofibromatosis5.jpg|This is a higher-power photomicrograph of the neurofibroma (1) with the overlying skin (2).
File:IPLab5Neurofibromatosis8.jpg|This is a high-power photomicrograph of the cells in the neurofibroma.
</gallery>
 
== Virtual Microscopy ==
<peir-vm>IPLab5Neurofibromatosis</peir-vm>
== Study Questions ==
* <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.</spoiler>
 
== Additional Resources ==
=== Reference ===
* [http://emedicine.medscape.com/article/1177266-overview eMedicine Medical Library: Type 1 Neurofibromatosis]
* [http://emedicine.medscape.com/article/1112001-overview eMedicine Medical Library: Dermatologic Manifestations of Neurofibromatosis Type 1]
* [http://www.merckmanuals.com/professional/pediatrics/neurocutaneous_syndromes/neurofibromatosis.html Merck Manual: Neurofibromatosis]
* [http://www.nlm.nih.gov/medlineplus/neurofibromatosis.html Neurofibromatosis: MedlinePlus]
 
=== Journal Articles ===
* Kiliç S, Tezcan I, Sanal O, Ersoy F. [http://www.ncbi.nlm.nih.gov/pubmed/11737751 Common variable immunodeficiency in a patient with neurofibromatosis]. ''Pediatr Int'' 2001 Dec;43(6):691-3.
 
=== Images ===
* [{{SERVER}}/library/index.php?/tags/2145-neurofibromatosis PEIR Digital Library: Neurofibromatosis Images]
* [http://library.med.utah.edu/WebPath/CNSHTML/CNSIDX.html#11 WebPath: CNS Neoplasms]
{{IPLab 5}}
[[Category: IPLab:Lab 5]]