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We present the case of a patient with neurofibromatosis-1, also known as von Recklinghausen's disease, and hepatic neurofibromatosis, and in which during the evaluation for abdominal pain syndrome, an imaging study was performed that defined the process as a mass extensive, occupying, with a compressive effect on the liver parenchyma, and distortion of both the intrahepatic and extrahepatic bile ducts. The development of extensive plexiform neurofibromas is an unusual presentation of the condition and even more so with abdominal involvement, as in this case, which is much less frequent. [ABSTRACT FROM AUTHOR]

A 4-year-old boy who was treated at the Santa Clara Health Center in Koulikoro by the medical team of the European Union Training Mission Mali XIX for a facial tumor that developed left ocular proptosis, causing a significant facial asymmetry at the level of the left eye. Medical examination revealed light brown stains, axillary ephelid and Lisch nodules in both eyes. Because of the suspicion of neurofibromatosis type 1 and following civil-military cooperation procedures, he is transferred to Spain. Civil-military cooperation is essential in the new forms of conflict, where these relationships are a fundamental tool in the coordination of all operations in the area. At the Miguel Servet University Hospital, in association with the General Defense Hospital of Zaragoza, the earlier diagnosis is confirmed (left trigeminal plexiform neurofibroma) with a genetic study and complementary imaging tests. It is decided to start treatment with selumetinib. [ABSTRACT FROM AUTHOR]

BACKGROUND: Neurofibromatosis type 1 (NF1) is an autosomal dominant disease caused by mutations in neurofibromin -NF1- which are decisive in the development of tumors such as plexiform neurofibromas. CLINICAL CASE: A 12-year-old male patient was diagnosed with neurofibromatosis type 1 with a plexiform neurofibroma in the preauricular region associated with moderate to severe pain. A decrease in size and complete remission of pain was obtained with topical sirolimus. CONCLUSIONS: The treatment of plexiform neurofibromas is surgical resection; however, this is not always possible. Sirolimus is a mTOR pathway inhibitor that has shown efficacy in managing pain associated with plexiform neurofibromas and, to a lesser extent, in reducing their size. This case supports the use of topical sirolimus as a palliative therapeutic option in patients with unresectable plexiform neurofibromas. [ABSTRACT FROM AUTHOR]

The case report of a 36 years patient with pathological history of Von Reklinghausen disease is presented. She was assisted in the General Surgery Service of the Hospital Center from Kossodô in Burkina Faso presenting a giant tumor in the back region of the right thigh. The complementary exams confirmed the presumed diagnosis of giant plexiform neurofibroma of the sciatic nerve. During the surgical procedure an uncommon tumor was removed which weight exceeded the 22.5 kg. With the postoperative rehabilitative treatment of the operated member the patient had a favorable clinical course and she was discharged from the hospital 7 days later. [ABSTRACT FROM AUTHOR]