Frenk E, Calame A
Schweiz Med Wochenschr. 1977 Dec 31;107(52):1964-8.
Four members of a Swiss family were affected with oculo-cutaneous hypopigmentation of dominant transmission which differed from the previously described cases of dominant oculo-cutaneous albinism by its ultrastructure. The hypopigmentation described here is characterized by the formation of numerous, but very small, melanosomes. Melanocytic tyrosinase activity was normal in light microscopy. However, on electron microscopy, tyrosinase activity was strong in premelanosomes of stage I only, and decreased rapidly in the later stages. One of the affected members also presented a Prader-Willi syndrome and a chromosomal anomaly, both being probably unrelated to the pigmentary disorder.
一个瑞士家庭的四名成员患有显性遗传的眼皮肤色素减退症，其超微结构与先前描述的显性眼皮肤白化病病例不同。此处描述的色素减退症的特征是形成大量但非常小的黑素小体。在光学显微镜下，黑素细胞酪氨酸酶活性正常。然而，在电子显微镜下，酪氨酸酶活性仅在I期前黑素小体中较强，而在后期迅速降低。其中一名受影响成员还患有普拉德-威利综合征和染色体异常，这两者可能与色素紊乱无关。
