Neurofibromatosis 1 with Variable Expression in a Family
نویسندگان
چکیده
Neurofibromatosis is a autosomally dominant disorder. It has been classified as Neurofibromatosis 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. Expression of the Neurofibromatosis 1 might range from subcutaneous nodules of neurofibromas to skeletal deformities. We are reporting a family with variable expression of Neurofibromatosis 1. The Index case is showing skeletal deformities. Father of the index case have multiple 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 showing only few of the subcutaneous nodules on the limbs.
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