in addition to the triad in the hermansky-pudlak syndrome ( tyrosine-positive oculocutaneous albinism , mild bleeding tendency with a normal platelet-count and widespread accumulation of ceroid-like pigment in various organs ) , we document severe pulmonary fibrosis , pseudomelanosis coli and deeply pigmented renal cortex .
C0079504
hermansky-pudlak syndrome
C0078918
oculocutaneous albinism