Transperineal sonographic findings of vulvar neurofibromatosis Type 1

Sonographic Findings in Partial Type of Trisomy 18

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.

Ocular pathologic findings of neurofibromatosis type 2.

OBJECTIVE To gain insight into the pathogenesis of neurofibromatosis type 2 (NF2) by investigating the ocular manifestations of this disease. METHODS Using standard histologic techniques, immunohistochemistry, and electron microscopy, we described the ocular pathologic findings of a 34-year-old woman who died from complications of NF2. RESULTS We identified 3 types of NF2-associated lesions...

Vulvar Malignancy in Neurofibromatosis Syndrome

Type 1 neurofibromatosis (NF1) is a dominantly inherited neurologic disorder that affects primarily the skin, bones, and peripheral nervous system. It may be associated with a variety of clinical manifestations including cafe-au-lait spots, skinfold freckling, Lisch nodules, and visceral neurofibromas. Individuals affected by NF1 harbor an increased risk for both benign and malignant tumors. Ma...

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...