Τετάρτη 27 Σεπτεμβρίου 2017

Neurofibromatosis type 1 and right mandibular hypoplasia: unusual diagnosis of occlusion of the left common carotid artery

Neurofibromatosis type 1 also known as Von Recklinghausen's disease is an autosomal dominant neurocutaneous disease, with a disturbance of the NF1 gene localized in the 17th chromosome. Its incidence is 1 of 2500–3300 newborns. It is characterized by the formation of tumours in ectoderm and mesoderm tissues; consequently, its clinical manifestations are widely varied. Most frequent clinical manifestations are café-au-lait spots, axillary and groin freckling, Lisch nodules and neurofibromas. Other manifestations include hyperpigmentation, tumours and skeletal, neurological and cardiovascular disturbances [1].

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