Hermansky-Pudlak syndrome; a case report with analysis of auto-fluorescent ceroid-like pigments.
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. Ultrastructurally, CLP was intracytoplasmic electron-dense and -lucent congeries. Histochemical characteristics and auto-fluorescence of CLP showed similarities to ceroid. 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 360nm and a fluorescence maximum at 440nm, which is the same characteristic as described fluorescent lipid peroxidation products in vitro.
Ohbayashi
C
C
Division of Pathology, Kobe Medical University Hospital, Japan.
Kanomata
N
N
Imai
Y
Y
Ito
H
H
Shimasaki
H
H
D000328:Adult; D016115:Albinism, Oculocutaneous / Q000150:complications / Q000473:pathology*; D001344:Autopsy; D002566:Ceroid / Q000032:analysis* / Q000378:metabolism; D017809:Fatal Outcome; D005453:Fluorescence; D006470:Hemorrhage / Q000209:etiology / Q000473:pathology; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D008854:Microscopy, Electron; D011658:Pulmonary Fibrosis / Q000209:etiology / Q000473:pathology
D002566:Ceroid