von Recklinghausen Disease Associated with Intrahepatic cholangiocarcinoma and ampullary carcinoid.

Bilateral trigeminal schwannomas associated with von Recklinghausen disease.

A 47-year-old woman was admitted on February 7, 1990 with numbness of the left side of her face that had been present for 2 months. This numbness extended from the forehead to the jaw in the distribution of the trigeminal nerve. In 1983 and 1984, the patient had undergone the removal of subcutaneous tumors of the right side of the neck, in both axillae, and along the right flank. The histologic...

Von recklinghausen disease: one patient – various problems

von Recklinghausen disease (vRD), more widely known as neurofibromatosis type 1, belongs to a group of genetic disorders and it is considered to be the most common genodermatosis. The disease has an autosomal dominant pattern of inheritance that involves mutations within the NF1 gene located on chromosome 17 in locus q11.2. The product of the NF1 gene is neurofibromin and the protein is well kn...

Linkage analysis of neurofibromatosis (von Recklinghausen disease).

Linkage analysis of 28 genetic markers was undertaken in 108 subjects from 11 families with well-documented, classic, peripheral neurofibromatosis. Fifty-four persons were affected in one four-generation family, seven three-generation families, and three two-generation families. Lod scores were calculated using the standard LIPED programme for 49 combinations of theta male and theta female from...

Neurofibromatosis, type 1 (von Recklinghausen disease).

Type 1 neurofibromatosis (von Recklinghausen disease).

Type 1 neurofibromatosis (NF1), or von 
Recklinghausen disease, is a genetic disorder that is well known for its clinical features. 
Effective treatment modalities for NF1 have not yet been established. The advent of new treatment options for NF1 such as topical vitamin D3 analogues, lovastatin, rapamycin (or sirolimus), and imatinib mesylate has added new dimensions that require further invest...