Genotyping, using plasma proteins or DNA polymorphisms or both, was carried out on 30 families selected through probands with Von Recklinghausen disease. The data provide additional evidence for the exclusion of loci on chromosomes 3 and 5, and chromosome arms 1q, 2p, 4p, 4q, 6q, 7p, 9q, 11p, 11q, and 14q. There was no evidence for genetic heterogeneity at D1S1 (DNF15S2) on chromosome arm 3p, u...

Von Recklinghausen disease (neurofibromatosis, NF-1) is the most common inherited syndrome predisposing to neoplasia, particularly neural crest-derived tumors. However, occurrence of primary lung adenocarcinoma in association with NF-1 is not common. We present a 42-year old man with NF-1 and primary adenocarcinoma of the lung to discuss the linkage between these two entities. [Turk J Cancer 20...

The hemochromatosis term was originally used by von Recklinghausen in 1889 to describe tissue injury caused by iron overload. A current definition of hemochromatosis describes it as an inherited disorder of iron metabolism, characterized by inappropriately high absorption of iron by the gastrointestinal mucosa, leading to excessive storage of iron (particularly in the liver, skin, pancreas, hea...

Linkage analysis of 15 Utah kindreds demonstrated that a gene responsible for von Recklinghausen neurofibromatosis (NF) is located near the centromere on chromosome 17. The families also gave no evidence for heterogeneity, indicating that a significant proportion of NF cases are due to mutations at a single locus. Further genetic analysis can now refine this localization and may lead to the eve...

Neurofibromatosis, otherwise known as von Recklinghausen disease, is a congenital hereditary disorder involving tissues of neuroectodermal or mesodermal origin. Involvement of the coronary arteries is, however, extremely rare. To the best of our knowledge, this represents the first report of off-pump coronary artery bypass grafting using the bilateral internal mammary arteries for coronary arte...

neurofibromatosis type 1, also known as von recklinghausen disease, is an autosomal dominant disorder with an incidence of 1 per 4000. neurofibromas are benign, heterogeneous tumors arising from the connective tissue of peripheral nerve sheaths, especially the endoneurium. visceral involvement in disseminated neurofibromatosis is rare. neurofibroma occurs most frequently in the stomach and jeju...

Bladder schwannomas are exceedingly rare, benign or malignant, nerve sheath tumors that are most often discovered in patients with a known diagnosis of Neurofibromatosis type 1 (NF1). A few sporadic case reports of bladder schwannoma have been published in urologic, obstetric/gynecologic, and pathologic journals. We report a case of an isolated schwannoma of the urinary bladder. To our knowledg...

In classical Von Recklinghausen neurofibromatosis (Type I), skeletal defects occur as a result of abnormalities of derivatives of the neuroectoderm and mesoderm. Temporomandibular joint (TMJ) disorders caused by neurofibroma in the joint capsule or disc have not been reported previously in the English language literature. A case of neurofibroma in the TMJ articular disc in a 29-year-old woman w...