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Neurofibromatosis type 1: familial case series and review

Author: 
Dr. Shilpa Parikh, Dr. Sheetal Sharma, Dr. Mahalaxmi Panda and Dr. Jigna. S. Shah
Subject Area: 
Health Sciences
Abstract: 

The neurofibromatosis type 1 (NF1) is inherited as an autosomal dominant trait, therefore, is a hereditary condition. At least eight forms of neurofibromatosis have been recognized, but the most common is the (NF1), with a prevalence of 1:2200 to 3000 births. The signs and symptoms of this condition vary widely among affected people. The most common sign on the skin is multiple neurofibromas. Bone lesions, cardiovascular and neurological abnormalities are other manifestations of this disease. Oral manifestations may occur in this disease as high as 72% to 92% of all cases. The most commonly affected sites are the tongue and buccal mucous. Oral radiographic findings include an enlarged mandibular canal, mandibular foramen, and mental foramen. NF1 is diagnosed in an individual with two or more of the following signs: cafe au lait macules, two or more neurofibromas of any type or a single plexiform neurofibroma freckling in the axillary or inguinal region and optic glioma. Proper diagnosis and management of patients with neurofibromatosis should be carried out. A multidisciplinary approach should be carried out for the proper planning of the treatment plans. The aim of this paper was to report the clinical, radiographic orofacial characteristics observed in 4 famalies patients diagnosed with NF1.

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