Dictionary of Human Evolution and Biology

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Neurofibromatosis Type I

Relatively benign inherited disease characterized by mild tumors of muscular, skeletal, and nervous system tissues, especially on nerve endings in the skin, often accompanied by café-au-lait spots and soft tumors. The usual cause is one of several autosomal dominant defects in a cytoplasmic protein, neurofibromin (NF1), which normally suppresses the activity of a second gene (p21, the Ras oncogene) that causes tumor formation; the result is uncontrolled cell proliferation. A paternal age effect is suspected. Aka von Recklinghausen disease, peripheral neurofibromatosis.

Cf. Proteus syndrome.

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