Abstract

OROZCO ARIZA, JJ et al. Neurofibromatosis type 1 (NF1) review and report of a case with buccofacial manifestations. Av Odontoestomatol [online]. 2005, vol.21, n.5, pp.231-239. ISSN 2340-3152.

Neurofibromatosis is a hereditary illness of dominant autosomic transmission which cope with cell development in the neural creek. Mouth-face manifestations caused by neurofibromatosis type 1 (NF1) are scarce, showing a dominance of 1 among 16,000. The case shown belongs to a patient - male, aged 10, black - who went into hospital in Cartagena de Indias (Colombia) in the section of Oral and Maxilofacial Surgery Service after detecting a nodule on the mouth soil and a light facial asymmetry caused by a swelling around the upper and lower left jaw. During the medical tests, several light-brown spots were found on the skin and the ophthalmology test revealed several Lisch nodules. Radiography showed bone compression and ,later on, computer thomography discarded the existence of optic nerves glioma. In the medic reports we could see that the patient’s father, sister and aunt suffered from NF1 as well. According to the the diagnostic criteria regarding NF1 established in "National Institute of Health Concensus Development. A Conference on Neurofibromatosis" (1987), the evidence found in the patient after the tests (the 3 sympthoms) led us to diagnose NF1 and made us focus and re-consider the case from a former mouth-face injury to a later neurofibroma, which was clinically and officially confirmed. The treatment of NF1 patients is hard as well as the complications derived from deformations (and its following psychological problem), gliomas of the optic nerves (blindness) or the high-risk of malignization. The genetic Council assistance, the isolation of the gen and the latest developments in the field of Genetics allow us to have great expectations in the pre-birth diagnostic.

Keywords : Neurofibromatosis; NF1; NF2.

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