Wang Tingmei, Li Hongwen, Dong Yingying, Hu Man, She Qiuyun, Deng Yunhua
Department of Dermatology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
J Cutan Pathol. 2017 Nov;44(11):948-950. doi: 10.1111/cup.13012. Epub 2017 Sep 4.
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.
家族性进行性色素沉着症（FPH）是一种常染色体显性遗传性皮肤病，其特征为色素沉着斑会随着年龄增长而增大、增多。自1971年在一个非裔美国家庭中首次被描述以来，仅有少数FPH病例被记录在案。中国中部一个患有FPH的三代家族也有过报道。在此，我们对那个中国FPH家族进行了再次调查，发现了一些不寻常的特征，包括发病年龄延迟以及眼部和口腔黏膜未受累。对该家族先证者的皮肤进行电子显微镜检查显示，病变角质形成细胞中的黑素体比病变周围角质形成细胞中的更多。此外，在色素沉着区域的角质形成细胞中观察到大量无膜结合的黑素体复合物，而在正常色素沉着区域的角质形成细胞中，所有黑素体均呈分散状态。
