TY - JOUR
T1 - Hermansky-Pudlak syndrome
T2 - Case report and clinicopathologic review
AU - Schachne, Jeffrey P.
AU - Glaser, Noam
AU - Lee, Sunhee
AU - Kress, Yvonne
AU - Fisher, Michael
PY - 1990
Y1 - 1990
N2 - 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.
AB - 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.
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U2 - 10.1016/0190-9622(90)70128-5
DO - 10.1016/0190-9622(90)70128-5
M3 - Review article
C2 - 2186061
AN - SCOPUS:0025373487
SN - 0190-9622
VL - 22
SP - 926
EP - 932
JO - Journal of the American Academy of Dermatology
JF - Journal of the American Academy of Dermatology
IS - 5
ER -