Douleurs et neurofibromatose de type 1 : comment et à quoi faut-il penser ?

This report deals with the study of body pain and headache which are often overlooked in neurofibromatosis 1 studies. Headache, according to the literature present in 30 to 47% of patients, is generally attributed to migraine or tension type headache and rarely to specific lesions observed in 5.5 to 7.5% of patients with headache (cerebral or optic pathway gliomas, hydrocephalus, cerebrovascular abnormalities, pheochromocytoma). Body pain, present for 11% of patients, with quality-of-impairment, can be attributed to multiple lesions (osseous abnormalities, nodular or plexiform neurofibromas, schwannomas, or malignant peripheral nerve sheath tumors) or are primary without definite cause, often when there is diffuse or multifocal painful sites. Clinical analysis is the key to diagnosis, and determines choice of investigations and treatments. Regular lifetime surveillance of NF1 patients, organized by a multidisciplinary neurofibromatosis clinic (French NF1 group), is the best means to achieve early detection of serious complications.