Neurofibromatosis type 1

A new disease profile is added to our database – Neurofibromatosis type 1 (NF1). Neurofibromatosis is an autosomal dominant neurogenetic disorder. The usual order of appearance of the clinical features listed as NIH criteria is is cafй-au-lait macules, axillary freckling, Lisch nodules and neurofibromas. Symptomatic optic glioma is usually diagnosed by 3 years old and characteristic osseous lesions are usually apparent within the first year of life. Occasional features include scoliosis, pseudarthrosis of the tibia, pheochromocytoma, meningioma, glioma, acoustic neuroma, mental retardation, hypertension, and hypoglycemia. NF1 occurs in approximately 1 of 2 500-3 300 live births, regardless of race, sex or ethnic background. To receive a full description of this rare disease absolutely free of charge, please click here and send us a request. The profile was written by our consultant in pediatrics – Dr. Ivan Ivanov, MD, PhD.