Neurofibromatosis

ICD-O:9540/0

Von Recklinghausen disease or neurofibromatosis type I is inherited as an autosomal dominant trait and the gene responsible is located on chromosome 17 [153]. It is relatively common and affects about 1 in 4,000 births. It is usually diagnosed before the age of 10 years because of the characteristic cutaneous lesions and the frequent family history.

Clinically, it is characterised by cutaneous neurofi-bromas that are usually associated with café au lait pigmentation of the skin. Lesions may be focal, but sometimes there can be thousands of tumours and the condition is then grossly disfiguring. The lesions are usually painless, but itching can be a serious problem. There can be overgrowth of bone and associated soft tissue leading to bizarre localised gigantism. Nearly a quarter of cases involve the head and neck, but only about 5% affect the oral cavity.

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