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Neurocutaneous melanosis : ウィキペディア英語版
Neurocutaneous melanosis
Neurocutaneous melanosis is a congenital disorder characterized by the presence of congenital melanocytic nevi on the skin and melanocytic tumors in the leptomeninges of the central nervous system. These lesions may occur in the amygdala, cerebellum, cerebrum, pons, and spinal cord of patients. Although typically asymptomatic, malignancy occurs in the form of leptomeningeal melanoma in over half of patients. Regardless of the presence of malignancy, patients with symptomatic neurocutaneous melanosis generally have a poor prognosis with few treatment options. The pathogenesis of neurocutaneous melanosis is believed to be related to the abnormal postzygotic development of melanoblasts and mutations of the NRAS gene.〔
== History ==
Neurocutaneous melanosis was first described in 1861 by Rokitansky. It was first named by Van Bongaert in 1948.
Premortem detection is difficult without the use of MRI. This, combined with the asymptomatic nature of most cases, led to the early belief that all cases were fatal. Therefore, few symptomatic cases (around 100) have been reported to date.

抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)
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