Feature of NF 1 are-
*Common autosomal dominant disease caused by loss of function mutation in NF1 gene located at 17q11.2. multiple neurofibromas in combination with 6 or more CALM measuring >1.5cm,axillary freckling and multiple Lisch nodules are seen in NF1. It is associated with variety of tumours malignant peripheral nerve sheath tumor,gliomas of optic nerve,o ther hilal tumours and hamaomatous lesions and pheochromocytomas. Neurofibromatosis type I (NF-1) is a complex multi-system human disorder caused by the mutation of a gene on chromosome 17 that is responsible for production of a protein called neurofibromin which is needed for normal function in many human cell types Ref Harrison20th edition pg 2376
Axillary freckle
Optic glioma
Family history
All
C.N.S