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.
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
Von Recklinghausen disease (VR) or neurofibromatosis type I (NF1) is an autosomal dominant disorder characterized by the propensity to form ectodermal and mesodermal tissue tumours, (1) affecting primarily the nervous system and the skin.
Periampullary neoplasms in von Recklinghausen disease.
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
6] 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.
Half of these tumors arise de novo, and the other half derive from nerves involved by neurofibroma as part of von Recklinghausen disease
(neurofibromatosis type 1).
Peripheral nerve sheath tumor (PNST) containing a glandular component, commonly referred to as glandular PNST, represents a rare entity found largely in patients with von Recklinghausen disease.
Based on these findings, a clinical diagnosis of von Recklinghausen disease was made.