Von Recklinghausens disease


Von recklinghausen's disease is an autosomal dominant inherited disorder (with a high frequency of spontaneous mutations) that features developmental changes in the nervous system, muscles, bones, and skin, most notably in tissue derived from the embryonic neural crest. Multiple hyperpigmented skin lesions, called cafe au lait spots, and subcutaneous tumors are the hallmark of this disease. Peripheral and central nervous system neoplasms occur frequently, especially optic nerve glioma and neurofibrosarcoma.


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Keywords: 1, 000209, au, autosomal, cafe, disease, dominant, health, hyperpigmentation, hyperpigmented, inherited, lait, legs, macules, medical, neurofibromas, neurofibromatoses, neurofibromatosis, neuromatosis, phakomatoses, photograph, recklinghausens, skin, spots, type, von