+ Site Statistics
+ Search Articles
+ PDF Full Text Service
How our service works
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ Translate
+ Recently Requested

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.

Please choose payment method:






(PDF emailed within 0-6 h: $19.90)

Accession: 008767534

Download citation: RISBibTeXText

PMID: 8821340

DOI: 10.1159/000213751


Related references

Ceroid lipofuscin in Hermansky-Pudlak syndrome and neuronal ceroid lipofuscinoses. Proceedings of the Finnish Dental Society. Suomen Hammaslaakariseuran Toimituksia 86(2): 99, 1990

An autopsy case of Hermansky-Pudlak syndrome with diffuse interstitial pneumonia (Davies-Tuddenham syndrome)--marked ceroid-like granule deposition in the renal proximal tubular epithelia. Nihon Kyobu Shikkan Gakkai Zasshi 22(10): 932-938, 1984

Hermansky-Pudlak syndrome. Pulmonary manifestations of a ceroid storage disorder. American Journal of Medicine 66(5): 737-747, 1979

The role of ceroid in lung and gastrointestinal disease in Hermansky-Pudlak syndrome. Advances in Experimental Medicine and Biology 266: 283-96; Discussion 297, 1989

Urinary dolichols and ceroid like storage material in hermansky pudlak syndrome. Archives de Biologie 96(3): 375, 1985

Hermansky-pudlak syndrome: a case report. Case Reports in Hematology 2014: 249195, 2014

Hermansky-pudlak syndrome; a case report. Journal of Ophthalmic and Vision Research 5(4): 269-272, 2010

Hermansky-Pudlak syndrome: a case report and discussion. Pediatric Dermatology 15(5): 374-377, 1998

Hermansky-Pudlak syndrome in pregnancy: A case report. Obstetric Medicine 9(4): 171-173, 2016

Albinism, thrombopathy, ceroid storage disease--Hermansky-Pudlak syndrome. Overview and description with immunodeficiency. Klinische Padiatrie 208(2): 83-87, 1996

Ceroid like storage disease and platelet defects in hermansky pudlak syndrome an anti oxidant defect. Yale Journal of Biology & Medicine 46(5): 717-718, 1973

Hermansky-Pudlak syndrome in a pregnant patient: a case report. Journal of Reproductive Medicine 58(5-6): 267-270, 2013

Hermansky-Pudlak syndrome: case report and clinicopathologic review. Journal of the American Academy of Dermatology 22(5 Pt 2): 926-932, 1990

Hermansky-pudlak syndrome: report of a case and review of the literature. International Journal of Clinical and Experimental Pathology 1(6): 550-554, 2008