Norio R, Oksanen T, Rantanen J
Department of Medical Genetics, Family Federation of Finland, Helsinki.
J Med Genet. 1996 Mar;33(3):184-6. doi: 10.1136/jmg.33.3.184.
The significance of hypopigmented skin findings as manifestations of the gene for tuberous sclerosis (TS) in near relatives of TS patients is a difficult problem. We therefore studied the number and kind of whitish skin alterations found in 100 medical students and 100 school children. Ninety three percent of the former and 79% of the latter had some whitish lesions, many of them scars. Twenty percent of the adults and 12% of the children had roundish or oval macules larger than 10 mm in diameter, not known to be scars. In clinical practice with TS patients, our attention has been drawn to whitish raised masses or streaks in their first degree relatives. These were also found in study subjects so the significance of such lesions remains unclear. The role of Wood's light turned out to be questionable, far from pathognomonic for TS; 25% of all the whitish findings and 53% of the hypopigmented macules larger than 10 mm in diameter showed distinct or brilliant fluorescence under Wood's light.
在结节性硬化症（TS）患者的近亲中，皮肤色素减退表现作为TS基因的体现，这是一个难题。因此，我们研究了100名医科学生和100名学童身上发现的白色皮肤改变的数量和种类。前者中有93%，后者中有79%有一些白色病变，其中许多是疤痕。20%的成年人和12%的儿童有直径大于10毫米的圆形或椭圆形斑疹，并非疤痕。在对TS患者的临床诊疗中，我们的注意力被吸引到他们一级亲属身上的白色隆起肿块或条纹。在研究对象中也发现了这些情况，所以此类病变的意义仍不明确。伍德灯的作用结果存疑，远非TS的特征性表现；所有白色病变中有25%以及直径大于10毫米的色素减退斑疹中有53%在伍德灯下显示出明显或明亮的荧光。
