Hermansky-Pudlak syndrome: case report and clinicopathologic review.
The Hermansky-Pudlak syndrome is an autosomal recessive disorder consisting of the triad of albinism, a bleeding diathesis, and ceroid deposition within the reticuloendothelial system. In this study of a patient with Hermansky-Pudlak syndrome, we demonstrate the presence of ceroid within dermal macrophages. Electron microscopic studies suggest that melanosomes may be a substrate for the formation of ceroid in the skin. A review of the clinical and pathophysiologic features of this disorder is presented.
Schachne
J P
JP
Division of Dermatology, Albert Einstein College of Medicine, Bronx, NY 10461.
Glaser
N
N
Lee
S H
SH
Kress
Y
Y
Fisher
M
M
D000417:Albinism / Q000473:pathology*; D002566:Ceroid; D005260:Female; D005355:Fibrosis; D006474:Hemorrhagic Disorders / Q000473:pathology*; D006801:Humans; D008264:Macrophages / Q000648:ultrastructure; D008875:Middle Aged; D012157:Mononuclear Phagocyte System / Q000648:ultrastructure*; D011647:Puerto Rico; D012867:Skin / Q000648:ultrastructure; D013577:Syndrome
D002566:Ceroid