LD2D.10
category
Neurofibromatosis type 1
Definition
Neurofibromatosis type 1 (NF1) is an inherited, multi-system, neurocutaneous disorder that predisposes to the development of benign and malignant tumours. Two of the following criteria are required to diagnose NF1: six or more café au lait patches, neurofibromas, i.e. peripheral nerve sheath tumours manifesting as cutaneous, sub-cutaneous or plexiform lesions, skin-fold freckling, two or more iris Lisch nodules, an optic pathway glioma, a specific bony dysplasia (thinning of the long bone cortex, sphenoid wing dysplasia), an affected first-degree relative.
Inclusions
- von Recklinghausen disease
Also indexed as
Familial spinal neurofibromatosisNF1 - [Neurofibromatosis type 1]Neurofibromatosis type 1Neurofibromatosis, peripheral typeRecklinghausen diseaseSegmental neurofibromatosis 1von Recklinghausen diseasevon Recklinghausen neuropathy