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Hermansky-Pudlak syndrome; a case report with analysis of auto-fluorescent ceroid-like pigments

Hermansky-Pudlak syndrome; a case report with analysis of auto-fluorescent ceroid-like pigments

Gerontology 41(Suppl. 2): 297-303

The Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disease characterized by a triad of oculocutaneous albinism, accumulation of auto-fluorescent ceroid-like pigments within macrophages, and bleeding tendency due to a storage pool disease of the platelets. We report an autopsy case (39y, male), who died of pulmonary fibrosis and hemorrhage, with analysis of auto-fluorescent ceroid-like pigments (CLP). Pigmented macrophages were seen in almost all organs, especially marked in bone marrow, spleen, liver, colon, lymph nodes and kidneys. Ultrastructually, CLP was intracytoplasmic electron-dense and -lucent congeries. Histochemical characteristics and autofluorescence of CLP showed similarities to cercoid. Substance which revealed brilliant lemon yellow autofluorescent was extracted from homogenized tissue of spleen with chloroform/methanol (2:1), then separated by thin-layer chromatography. The fluorescent substance had an excitation maximum at 360 nm and a fluorescence maximum at 440 nm, which is the same characteristic as described fluorescent lipid peroxidation products in vitro.

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Accession: 008767534

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PMID: 8821340

DOI: 10.1159/000213751

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