Which of the following is a major criterion for Neurofibromatosis (NF-1)?
Neurofibromatosis NF-1 gene on the proximal long arm of chromosome 17 AD NF-2 gene is located near centre of long arm of chromosome 22 Diagnostic criteria for NF 1: >=2 of the following criteria to be fulfilled: 1. >=6 cafe-au-lait macules of over 5mm in greatest diameter in pre pubeal individuals and over 15mm in greatest diameter in post pubeal individuals. 2. >=2 neurofibromas of any type or 1 plexiform neurofibroma. 3. Freckling in the axillary or inguinal regions 4. Optic glioma 5. >=2 Lisch nodules 6. Distinctive osseous lesion such as sphenoid dysplasia or thinning of the long bone coex with or without pseudoahrosis 7. A first-degree relative (parent, sibling, offspring) with NF1 by the above criteria. The presence of one or two cafe-au-lait macules is not diagnostic in the absence of other signs of the disease but if six or more cafe-au-lait macules are present, with a diameter of 5 mm or more, the probability of neurofibromatosis is high.
Hypopigmented macules
Axillary freckling
Dental enamel pits
Facial angiofibromas
Nutrition and Metabolic disorders,Systemic conditions ,Genodermatoses, Connective tissue disorders,Photodermatoses