Neurofibromatosis 1

Segmental Neurofibromatosis Type 1, a Rare Variant of Neurofibromatosis: Report of Two Cases

Segmental neurofibromatosis type I (SNF-I) is a rare variant of neurofibromatosis (NF). It is classified as NF type V and defined as cafe'-au-lait macules and/or neurofibromas in a single ,unilateral segment of the body .We report two cases with SNF-I with striking similar manifestations.

Neurofibromatosis type 1 revisited.

Neurofibromatosis type 1 (NF1) is an autosomal dominant condition with a worldwide incidence of approximately 1 per 2500 to 3000 individuals. Caused by a germ-line-inactivating mutation in the NF1 gene on chromosome 17, the disease is associated with increased morbidity and mortality. In the past several years, significant progress has been made in standardizing management of the major clinical...

Pseudoarthrosis in neurofibromatosis type-1.

Neurofibromatosis type 1 (NF1) is the most common neurocutaneous disease. The clinical manifestations are diverse. Some of the skeletal changes are most relevant to the patient. We report on 9 patients with NF1 who presented with typical pseudarthrosis. In 8 of these children the lower extremity was involved. In 2 cases lesions of both tibia and fibula were found, in one case even over long seg...

Hemostasis and Type 1 Neurofibromatosis

Vertebral scalloping in neurofibromatosis-1.

A 39-year-old male patient known to have neurofibromatosis-1, presented with sciatica and low back pain. At the age of 27, an MRI of the spine revealed widening of the lumbar canal due to posterior scalloping of the last 4 lumbar vertebrae. Repeat MRI and simple lateral lumbosacral plain film at the age of 39, revealed significant progression of the lumbosacral lesion. In view of the progressio...