Frenk E, Lattion F
J Invest Dermatol. 1982 Feb;78(2):141-3. doi: 10.1111/1523-1747.ep12506274.
The albinotic skin and hair of 2 patients with Hermansky-Pudlak syndrome were investigated by light and electron microscopy. Incubation of hairbulbs and epidermis in 1-dopa revealed a weak tyrosinase activity. The epidermal melanocyte population was of normal density. The most striking feature was the presence of numerous giant melanosomes resembling those mainly reported in various hyperpigmented skin lesions. The association of this melanosomal disorder with the platelet dysfunction and ceroid storage typical of the autosomal recessive Hermansky-Pudlak syndrome might provide new insights into the mechanism leading to formation of giant melanosomes.
通过光学显微镜和电子显微镜对2例Hermansky-Pudlak综合征患者的白化皮肤和毛发进行了研究。将毛球和表皮在1-多巴中孵育后显示酪氨酸酶活性较弱。表皮黑素细胞数量密度正常。最显著的特征是存在大量巨大黑素小体，类似于主要在各种色素沉着过度性皮肤病变中报道的那些。这种黑素小体疾病与常染色体隐性遗传的Hermansky-Pudlak综合征典型的血小板功能障碍和类蜡质蓄积之间的关联，可能为导致巨大黑素小体形成的机制提供新的见解。
