Neurofibromatosis type 1 (NF-1), or von Recklinghausen disease
, is the most common and is a result of a genetic mutation on chromosome 17 that is involved in producing a protein called neurofibromin.
relation to von recklinghausen disease
and other multiple tumor syndromes," American Journal of Surgical Pathology, vol.
Neurofibromatosis Type 1 also called Von Recklinghausen disease
is one of the most common neurogenetic diseases.
Also known as von Recklinghausen disease
type 1, the most important component of this disorder is the multiple neurofibromas.
Skeletal radiography revealed splaying of lower limb below the knee joint, decreased bone mineral density, thin cortices and several cystic brown tumours in pelvis and calvarium presenting the initiation of von Recklinghausen disease
of bone (Figure-1).
An 11-year-old family member of mine, let's call him "Joe," was born with the "cafe-au-lait" brown spots that are diagnostic of the genetic disease von Recklinghausen disease
(2) Two distinct types of neurofibromatosis have been described: NF1 (von Recklinghausen disease
), sometimes termed as peripheral neurofibromatosis, and neurofibromatosis type-2, or central neurofibromatosis.
He had suffered from von Recklinghausen disease
, as depicted in the film Elephant man, with huge benign tumours growing on the face.
Epithelioid variants of malignant peripheral nerve sheath tumors are not associated with von Recklinghausen disease
 Whereas malignant transformation is rare in isolated neurofibromas, it has been reported to occur in 2% to 13% cases of von Recklinghausen disease
[1, 4] when symptoms warrant, treatment for isolated neurofibromas is excision.
Chromosomes 17 and 11 involved in marker formation in neurofibrosarcoma in von Recklinghausen disease
: a cytogenetic and in situ hybridization study.