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Neurofibromatosis Type 1

The neurofibromatoses include at least two separate genetic disorders (NF-1 and NF-2) characterized by the formation of tumours surrounding nerves and a variety of other pathological features. As many as six additional types have been proposed to characterize what appear to be clinically distinct entities within this group. THE MOST COMMON TYPE (NF-1) is characterized by multiple café-au-lait spots and the occurrence of neurofibromas along peripheral nerves. Cutaneous neurofibromas are soft, flesh-coloured or lilac-pink tumours, sessile or dome-shaped, sometimes pedunculated, and most numerous on the trunk and limbs. Other clinical features include Lisch nodules (melanocytic pigmented iris hamartomas) and oral lesions. Possible complications in childhood include the development of an optic glioma, endocrine disturbances and involvement of the lower urinary tract. The children may also present with learning disabilities. THE SECOND TYPE (NF-2) is characterized by the occurrence of acoustic neuromas, usually bilateral, as well as meningiomas and other tumours of the nervous system. Café-au-lait spots and cutaneous neurofibromas may be seen, but are usually few in number and much less common than in NF-1. Presenile lens opacities or actual subcapsular cataracts are found in about 50% of affected patients. Inheritance is autosomal-dominant, somatic mutation may occur.

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