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患者女性,36岁,因右侧胸背疼1年于2006年7月23日入院。患者发病以来无畏寒、发热,无咳嗽、咳痰,咯血等症状。入院前2 d 曾在外院摄 X 线胸片显示右下大片均匀高密度影,右侧肋膈角消失,诊断为“右侧胸腔积液”。患者自幼全身皮肤逐渐出现灰褐色斑块沉着,10岁时因右眼球突出在上海某医院诊为“右眼视神经瘤”。母亲有明显“驼背”史,父亲健康,其女5岁前囟尚未闭合。入院体检:体温36.8℃,心率88次/min,呼吸22次/min,血压120/70 mm Hg(1 mm Hg=0.133 kPa),意识清楚,发育中等,全身皮肤有大小不等、形态不一的灰褐色斑块沉着,右踝关节处有典型牛奶咖啡斑(图1),四肢躯干皮下可触及大小不等结节(约0.5～2.0 cm 大小不等)。右眼球微凸,视力、听力粗测正常,右中下肺部叩诊浊音,右下肺呼吸音消失,各瓣膜区未闻及杂音,肝脾未触及。实验室检查:
Female patient, 36 years old, was admitted to hospital on July 23, 2006 because of chest and back pain on the right side. Since the onset of patients without chills, fever, no cough, sputum, hemoptysis and other symptoms. 2d before admission in the hospital outside the hospital X-ray showed a large right lower chest uniform high density, the right costophrenic angle disappeared, diagnosed as “right pleural effusion ”. Patients with systemic skin gradually gray-brown patchy, 10-year-old due to the right eyeball in Shanghai, a hospital diagnosed as “right optic neuroma”. The mother had a clear history of “humpback”, his father was healthy and his female fontanelle had not closed before the age of 5 years. Admission physical examination: body temperature 36.8 ℃, heart rate 88 beats / min, breathing 22 beats / min, blood pressure 120/70 mm Hg (1 mm Hg = 0.133 kPa), awareness, developmental, whole body skin sizes, Of brownish brown plaque, with typical milk coffee spots on the right ankle (Fig. 1). The limbs of the extremities can reach subcutaneous nodules of varying sizes (about 0.5-2.0 cm in size). The right eye is slightly convex, visual acuity, normal crude hearing, right lower lung percussion dullness, right lower lung respiratory sound disappeared, the valve area did not smell and noise, liver and spleen not touched. Laboratory examination: