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Neurofibromatosis type 1 (NF1) is an autosomally dominant inherited disorder characterized by neurocutaneous and bony lesions with multisystem vasculopathy in the form of stenotic and aneurysmal disease. The multisystemic nature of NF1 aneurysmal disease can have potentially serious clinical
BACKGROUND
Gastroenteropancreatic neuroendocrine tumors have occasionally been described in association with neurofibromatosis type 1, whereas an association with neurofibromatosis type 2 has never been reported.
METHODS
This report refers to an Italian 69 year old woman with neurofibromatosis type
Juvenile polyposis coli associated with neurofibromatosis in a 24-year-old white man is reported. Juvenile polyposis coli is now recognized as a distinct clinical entity. Differentiating it from the other hereditable gastrointestinal polyposis syndromes is important because of the lack of reported
Neurofibromatosis (NF) is a group of heterogeneous multisystemic neurocutaneous disorders that may affect any organ in the body and clinical presentation depends on the body system involved. We present a case of a middle-aged male who presented with a relatively fast growing abdominal mass in the
Colorectal carcinoma (CRC) is an extremely rare tumor of childhood that can be associated with cancer predisposition syndromes. A patient with CRC related to constitutional mismatch repair deficiency (CMMRD) syndrome with features of neurofibromatosis type 1 (NF-1) is presented here. A 13-year-old
OBJECTIVE
This pediatric phase I trial of tipifarnib determined the maximum-tolerated dose (MTD), pharmacokinetics, and pharmacodynamics of tipifarnib in children with refractory solid tumors and neurofibromatosis type 1 (NF1) -related plexiform neurofibromas.
METHODS
Tipifarnib was administered
Plexiform neurofibromatosis of the liver was recognized by needle biopsy of the liver in an 11-yr-old boy who had a 2-yr history of diarrhea, intermittent abdominal pain, failure to gain weight and progressive abdominal distention. Imaging studies demonstrated a large retroperitoneal mass; a
A 47-year-old woman with neurofibromatosis type 1 suffered from general muscle weakness and watery diarrhea. Laboratory findings showed elevated muscular enzymes, severe hypokalemia and excessive production of catecholamines and vasoactive intestinal polypeptide (VIP). A computed tomography scan
The most common gastrointestinal involvement in neurofibromatosis is due to tumoral lesions which may present with gastrointestinal bleeding or obstruction. We report a case of concurrent ulcerative colitis and neurofibromatosis.A 39 year-old woman, known case of neurofibromatosis, was admitted to
Concomitant association of histologically proven inflammatory bowel disease (IBD) and neurofibromatosis type 1 (NF1) is a rare finding documented in only 5 adult clinical cases. A 34-year-old woman with known neurofibromatosis was admitted to our department with a 6-month history of intractable
Constipation is a common gastrointestinal complication in type I neurofibromatosis (NF-1). We present a 4-year-8-month-old boy with NF-1 bothered by chronic episodic constipation and diarrhea since early childhood. Rectal suction biopsy confirmed the diagnosis of intestinal neuronal dysplasia. To
BACKGROUND
Neurofibromatosis type 1 is an autosomal dominant neurocutaneous disorder with characteristic features of skin and central nervous system involvement. Gastrointestinal involvement is rare, but the risk of malignancy development is considerable. Zollinger-Ellison syndrome is caused by
Somatostatinomas are rare neuroendocrine tumors (NET) that arise in the gastrointestinal (GI) tract. Because of their insidious growth, they are usually asymptomatic until late stages, presenting as malignant disease. We report the case of a 50-year-old woman who presented with epigastric abdominal
Neurofibroma is an uncommon benign tumour of neural tissue origin rarely presenting in the mouth and jaws and thereby attracting the attention of oral physicians. A 22-year-old male patient reported with a complaint of swelling in left middle one third region of face since 8-10 y which was slowly
The objective of the present study was to report on the measurement properties of the Pediatric Quality of Life Inventory (PedsQL) Neurofibromatosis Type 1 Module for pediatric patients ages 5-25 from the perspectives of patients and parents. The 104-item PedsQL NF1 Module and 23-item PedsQL Generic