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Abstract：
Piebaldism was associated with neurofibromatosis 1 (NF-1) in two patients, an association not previously reported. Dopa staining (tyrosinase) and electron microscopy were performed: no melanocytes or melanosomes were found in hypomelanotic skin of patient 2 and in the white forelock skin of patient 1; in patient 2, normal melanocytes and melanosomes were present in the white forelock epidermis but absent from the cortex, cuticles, and inner root sheath of the white forelock hair. Because these structures receive melanosomes from melanocytes in the hair bulb, it was assumed that there were no melanocytes in the hair matrix. Melanocytes and melanosomes were normal by ultrastructural criteria and in terms of their distribution in a normally pigmented macule within a hypomelanotic patch of patient 2. These and earlier report findings led to three conclusions: subtypes of piebaldism exist, including our patients showing a combination of piebaldism and NF-1; the most commonly reported subtype has no melanocytes in the white forelock and hypomelanotic skin, although microscopic islands of melanocytes may exist within hypomelanotic skin; and the ultrastructure of white forelock skin and hair of patient 2 is consistent with a mouse model of piebaldism, in which the hair follicle has no active melanocytes, but the interfollicular epidermis is normally melanized.
摘要：
在两名患者中，Piebaldism与神经纤维瘤病1（NF-1）有关，以前没有报道过的协会。进行了多巴染色（酪氨酸酶）和电子显微镜检查：在患者2的黑色素减少的皮肤和患者1的白色前锁皮肤中未发现黑素细胞或黑色素体；在患者2中，在白色前锁表皮中存在正常的黑素细胞和黑色素体，但在皮质中不存在。角质层,和白色额头头发的内根鞘。因为这些结构从毛球中的黑素细胞接收黑色素体，假定头发基质中没有黑素细胞。根据超微结构标准，黑素细胞和黑色素体是正常的，并且就其在患者2的色素过少斑块中的正常色素斑中的分布而言。这些和先前的报告发现得出了三个结论：存在piebaldism亚型，包括我们的患者显示piebaldism和NF-1的组合;最常见的亚型没有黑素细胞在白色的前锁和色素减少的皮肤，尽管黑素细胞的微观岛可能存在于色素减少症的皮肤中；并且患者2的白色前发皮肤和头发的超微结构与piebaldism的小鼠模型一致，其中毛囊没有活跃的黑素细胞，但是毛囊间表皮通常是黑色素化的。
