RECKLINGHAUSENS DISEASE OF NERVE
\ɹˈɛklɪŋhˌɔːsənz dɪzˈiːz ɒv nˈɜːv], \ɹˈɛklɪŋhˌɔːsənz dɪzˈiːz ɒv nˈɜːv], \ɹ_ˈɛ_k_l_ɪ_ŋ_h_ˌɔː_s_ə_n_z d_ɪ_z_ˈiː_z ɒ_v n_ˈɜː_v]\
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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 and subcutaneous tumors are the hallmark of this disease. Peripheral and central nervous system neoplasms occur frequently, especially OPTIC NERVE GLIOMA and NEUROFIBROSARCOMA. NF1 is caused by mutations which inactivate the NF1 gene on chromosome 17q. The incidence of learning disabilities is also elevated in this condition. (From Adams et al., Principles of Neurology, 6th ed, pp1014-18)
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Platidiam
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