整形外科と災害外科
Online ISSN : 1349-4333
Print ISSN : 0037-1033
ISSN-L : 0037-1033
一家系にみられた v. Recklinghausen 氏病
鮫島 教彦長野 芳幸木山 吉正大原 中行宝亀 玲一長嶺 隆徳楊 国雄
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1967 年 17 巻 1 号 p. 34-37

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In 1832 v. Recklinghausen made public his opinion that the disease which is characterized by multiple nodules and pigmentation of the skin and tumor of nerve trunk is neurofibromatosis. Since then, this disease has been known to have extremely varied clinical features and some hereditary relations. Recently, we have encountered a case of neurofibromatosis. The patient is a girl of 11 years old, and there were 7 other cases of this diseases in four generations of her family. She has pigmentation all over the body, subcutaneous tumors of left breast, severe deformities of thorax and spinal column, and spinal paralysis.
Pigmentation of the skin was already noticed at the time of birth.
By the age of 8 deformities of the thorax and spinal column had developed, at 11 she became unable to walk and also spastic paralysis of lower extremities and disturbance of the bladder and rectum appeared. After admitting to our department, laminectomy were perfomed. Her tumor under the skin of left breast was diagnosed as plexiform neurofibromatosis by pathologic examination.

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