neurofibromatosis (classic) type 1

Epidemiology

• one of the most frequent autosomal dominant diseases (about 1 in 3000)

Pathology

* histopathology images

Genetics

• chromosome 17q11.2 mutation
• associated with defects in neurofibromin
• autosomal dominant diseases, exhibits full penetrance by the age of 5 years & a high mutation rate with 30 to 50% of NF1 patients representing a new mutation

Clinical manifestations

• neurofibromas
• cafe-au-lait spots
• Lisch nodules of the iris
• axillary freckling (Crowe's sign)

* images

Laboratory

PCR/southern blot

More general terms

• neurofibromatosis (von Recklinghausen's disease)

More specific terms

• Watson syndrome

Additional terms

• neurofibromatosis type 1 [NF1] protein or neurofibromin
• neurofibromatosis-1 genotyping

Patient information

neurofibromatosis type-1 patient information

Database

• OMIM: https://mirror.omim.org/entry/162200