Familial progressive hyperpigmentation: A family resurvey and ultrastructural skin investigation
Familial progressive hyperpigmentation: A family resurvey and ultrastructural skin investigation
复制标题
家族性进行性色素沉着过度：家庭再调查和超微结构皮肤调查
DOI：
10.1111/cup.13012
复制
发表时间：
2017-11-01
影响因子：
1.7
通讯作者：
Deng，Yunhua
中科院分区：
文献类型：
--
作者：
Wang，Tingmei;Li，Hongwen;Deng，Yunhua
家族性进行性色素沉着症（FPH）是一种常染色体显性遗传病，其特征是色素沉着斑块的大小和数量随着年龄的增长而增加。自1971年在一个非裔美国家庭中首次描述以来，只有少数FPH病例被记录在案。在中国中部也有一个三代同堂的FPH家族的报道。在这里，我们重新调查了中国FPH家族的一些不寻常的特征，包括延迟发病年龄和不累及眼和口腔粘膜。该家族先证者皮肤的电镜检查显示，病灶性角质形成细胞中的黑色素素体多于病灶周围角质形成细胞。此外，在色素沉着区角化细胞中观察到大量非膜结合的黑素小体复合物，而所有黑素小体都分散在正常色素沉着区角化细胞中。
Familial progressive hyperpigmentation (FPH) is an autosomal dominant genodermatosis characterized by hyperpigmented patches that increase in size and number with age. Since its initial description in an African–American family in 1971, only a few cases of FPH have been documented. A three‐generation family with FPH in central China has also been reported. Here, we resurveyed that Chinese FPH family for a few unusual features including delayed age of onset and noninvolvement of ocular and oral mucosae. Electron microscopic examination of skin from the proband of the family showed that there were more melanosomes in lesional keratinocytes than in perilesional keratinocytes. Additionally, a large number of nonmembrane‐bound melanosome complexes were observed in the keratinocytes of hyperpigmented areas, whereas all of the melanosomes were dispersed in the keratinocytes of normally pigmented areas.