1967 年 17 巻 1 号 p. 34-37
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.