Neurofibromatosis type 1 (NF1) or Von Recklinghausen disease manifests as cutaneous café-au-lait spots and neurofibromas. It is one of the most common autosomal dominant genetic diseases. It is extremely variable in its individual manifestation. Cutaneous and neurologic symptoms are the most common manifestations but it can also affect other organs including eyes, bones and other areas. Lisch n...

A population based study of von Recklinghausen neurofibromatosis in south east Wales (population 668,100) identified 69 families with 135 affected members (prevalence 1/4950 of the population). In these families penetrance of the NF-1 gene was 100% by the age of five years. The genetic fitness of NF-1 sufferers was found to be reduced to 0.47, the effect being more marked in males than females ...

Neurofibromas are benign tumors from patients with von Recklinghausen Neurofibromatosis (NF1) that are comprised primarily of Schwann cells. These Schwann cells are found both in association with axons and in the extracellular matrix that is prevalent in neurofibromas, and in which fibroblasts are also abundant. An unresolved question has been whether cells in neurofibromas are normal cells or ...

An 8-year-old girl was referred to our department because of generalized bowing of long bones (radii, ulnae, and femora) and significant bilateral and symmetrical posteromedial bowing of the tibiae and fibulae. The femora were laterally bowed whereas the tibiae and fibulae showed posteromedial bowing between the middle and distal thirds of the tibia with posterior cortical thickening effectivel...

Schwannomas are tumors arising from the Schwann cells of the neural sheath ofmotor and sensory nerves. They are seen in all cranial nerves except optic and olfactory. They are also called neurilemmomas, neurinomas, and perineural fibroblastomas (7). They arise focally from the sheath of the nerve fascicle and present as well-defined eccentrically placed masses. This allows their dissection from...

Plexiform neurofibroma is a rare benign tumor of the peripheral tissue cells developed in the perineurium. Often considered pathognomonic of neurofibromatosis type 1 (NF1 or von Recklinghausen disease), it can be solitary, especially in children [1]. These entities consist of multiple, twisted masses that grow along the axis of a large nerve, infiltrating and separating normal nerve fascicles [...