PERIPHERAL NEUROFIBROMATOSIS
\pəɹˈɪfəɹə͡l njˌuːɹəfˌɪbɹəmɐtˈə͡ʊsɪs], \pəɹˈɪfəɹəl njˌuːɹəfˌɪbɹəmɐtˈəʊsɪs], \p_ə_ɹ_ˈɪ_f_ə_ɹ_əl n_j_ˌuː_ɹ_ə_f_ˌɪ_b_ɹ_ə_m_ɐ_t_ˈəʊ_s_ɪ_s]\
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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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Word of the day
Snake's-head
- Guinea-hen flower; -- so called in England because its spotted petals resemble the scales of a snake's head.