A new variant of Hermansky-Pudlak syndrome due to mutations in a gene responsible for vesicle formation
V Shotelersuk, EC Dell'Angelica, L Hartnell… - The American journal …, 2000 - amjmed.com
Hermansky-Pudlak syndrome is a recessive type of oculocutaneous albinism that is
prevalent in northwest Puerto Rico due to a founder effect (1–3). In this syndrome, bleeding
and bruising occur because of the absence of platelet dense bodies, which normally release
serotonin, calcium, and adenosine diphosphate to trigger a secondary aggregation
response (4). In addition, the accumulation of a lipid-protein complex called ceroid lipofuscin
(5, 6) is thought to cause the pulmonary fibrosis (7) and granulomatous colitis (8) seen in this …
prevalent in northwest Puerto Rico due to a founder effect (1–3). In this syndrome, bleeding
and bruising occur because of the absence of platelet dense bodies, which normally release
serotonin, calcium, and adenosine diphosphate to trigger a secondary aggregation
response (4). In addition, the accumulation of a lipid-protein complex called ceroid lipofuscin
(5, 6) is thought to cause the pulmonary fibrosis (7) and granulomatous colitis (8) seen in this …
