Neurofibromatosis Type 1 Accompanied by Craniofacial Pain: Literature Review and Descriptive Case

Neurofibromatosis type 1 (NF-1) is a genetic disease with characteristic neurofibromas and bony dysplasia that manifest throughout the body, including the craniofacial region. NF-1 patients are known to frequently report chronic pain in areas below the head; however, the matter of pain in the craniofacial region in this patient group has not been handled intensively so far, and studies have mainly focused on headaches. This article comprehensively reviews the related literature and reports a case of an NF-1 patient whose chief complaint was headache and pain in the temporomandibular joint area. Craniofacial pain is probably not an exceptional problem in NF-1, but the current inadequacy of related data is worrisome, considering the impact of pain on NF-1 prognosis and patient quality of life. The presence of craniofacial pain in NF-1 patients should be actively sought out in the diagnostic process and appropriate guidelines for its diagnosis and treatment should be established.