Cases reported "Neurofibromatoses"

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1/3. Rare complication of massive hemorrhage in neurofibromatosis with arteriovenous malformation.

    Neurofibromatosis is rare in the general population. Its clinical manifestations are systemic and variable. The clinical presentation of cutaneous lesions is even more variable. Some patients have giant tumors in the trunk or limbs (so-called "elephant neurofibromatosis"). The pathological findings are diffuse neurofibromatosis of the nerve trunk associated with overgrowth of subcutaneous tissue and skin. The associated vascular malformations make most surgeons hesitant to address them because bleeding to death is possible if the bleeding is not well controlled. According to the authors' experience in treating this complication of neurofibromatosis, they noted that there are three key points to reducing the amount of hemorrhage to a minimal level: (1) hypotensive anesthesia, (2) preliminary sutures around the lesion, (3) ligation of the limited numbers of feeding vessels in the vascular malformation of the neurofibroma. Ligating these pedicles can decrease bleeding during resection of the neurofibroma, as demonstrated in their patient.
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2/3. Neurofibromatosis involving the urinary bladder.

    We present two interesting cases of a 24-year-old man and a 14-year-old boy, uncle and nephew, with lower urinary tract symptoms, cafe au lait patches and subcutaneous nodules. ultrasonography and computed tomography scans showed a large, irregular lobulated soft tissue mass between the bladder and sacrum. cystoscopy, laparotomy and biopsies revealed neurofibromatosis involving the urinary bladder. No enlargement of the tumor or upper urinary tract obstruction has occurred during the long-term follow up. We recommend meticulous follow up of patients with giant intrapelvic neurofibromatosis.
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3/3. A case of the elephant man phenotype with giant rhinophyma and benign symmetric lipomatosis.

    We described an unusual male patient with two disfiguring diseases, benign symmetric lipomatosis and giant rhinophyma, which gave him a grotesque appearance. His physical appearance had isolated him from the rest of society and was probably the main reason for his alcohol abuse.
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