Simon J W, Adams R J, Calhoun J H, Shapiro S S, Ingerman C M
Am J Ophthalmol. 1982 Jan;93(1):71-7. doi: 10.1016/0002-9394(82)90701-2.
We report the association of oculocutaneous albinism and defective platelet function, the Hermansky-Pudlak syndrome, in two young Puerto Rican patients, a 17-year-old boy and a 9-year-old girl. Wide variation in pigmentation may obscure the diagnosis of albinism. Puerto Rican albinos are at increased risk of inheriting this autosomal recessive syndrome. Although usually mild, bleeding in affected patients can be life-threatening, especially after aspirin administration. Albino patients should be questioned about a history of bleeding and referred for hematologic consultation.
我们报告了两名年轻的波多黎各患者，一名17岁男孩和一名9岁女孩，患有眼皮肤白化病与血小板功能缺陷（Hermansky-Pudlak综合征）的关联。色素沉着的广泛差异可能会掩盖白化病的诊断。波多黎各白化病患者遗传这种常染色体隐性综合征的风险增加。虽然通常症状较轻，但受影响患者的出血可能会危及生命，尤其是在服用阿司匹林后。应对白化病患者询问出血史，并转诊进行血液学咨询。
