HERMANSKY-PUDLAK SYNDROME - CASE-REPORT AND CLINICOPATHOLOGICAL REVIEW

被引：10

作者：

SCHACHNE, JP

GLASER, N

LEE, S

KRESS, Y

FISHER, M

机构：

[1] YESHIVA UNIV ALBERT EINSTEIN COLL MED,DEPT PATHOL NEUROPATHOL,BRONX,NY 10461

[2] YESHIVA UNIV ALBERT EINSTEIN COLL MED,AFFILIATED HOSP,UNIFIED DIV DERMATOL,BRONX,NY 10461

来源：

JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY | 1990年 / 22卷 / 05期

关键词：

D O I：

10.1016/0190-9622(90)70128-5

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

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. © 1990, American Academy of Dermatology, Inc.. All rights reserved.

引用

页码：926 / 932

页数：7

共 45 条

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[2]

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[3]

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