Abstract |
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.
|
Authors | J P Schachne, N Glaser, S H Lee, Y Kress, M Fisher |
Journal | Journal of the American Academy of Dermatology
(J Am Acad Dermatol)
Vol. 22
Issue 5 Pt 2
Pg. 926-32
(May 1990)
ISSN: 0190-9622 [Print] United States |
PMID | 2186061
(Publication Type: Case Reports, Journal Article, Review)
|
Chemical References |
|
Topics |
- Albinism
(pathology)
- Ceroid
- Female
- Fibrosis
- Hemorrhagic Disorders
(pathology)
- Humans
- Macrophages
(ultrastructure)
- Middle Aged
- Mononuclear Phagocyte System
(ultrastructure)
- Puerto Rico
- Skin
(ultrastructure)
- Syndrome
|