Author(s): J.E. Waghmare, C.M. Badole, P.D. Kamble, S.K. Kale, A.K. Pal
Neurofibromatosis is a autosomally dominant disorder. It has been classified as Neurofi-bromatosis 1 and Neurofibromatosis 2. Neurofibromatosis 1 is caused due to the mutation in the NF1 gene which is located in the pericentromeric region of the chromosome 17. Expres-sion of the Neurofibromatosis 1 might range from subcutaneous nodules of neurofibromas to skeletal deformities. We are reporting a family with variable expression of Neurofibroma-tosis 1. The Index case is showing skeletal deformities. Father of the index case have multi-ple subcutaneous nodules of neurofibrobas all over the body, his elder brother is affected with plexifprm neurofibroma on the face and the younger sister is mildly affected and show-ing only few of the subcutaneous nodules on the limbs.