Hermansky-Pudlak syndrome: Case report and clinicopathologic review

J. P. Schachne; N. Glaser; S. Lee; Y. Kress; M. Fisher

Hermansky-Pudlak syndrome: Case report and clinicopathologic review

J. P. Schachne, N. Glaser, S. Lee, Y. Kress, M. Fisher

Pathology

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13 Scopus citations

Abstract

The Hermansky-Puklak 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.

Original language	English (US)
Pages (from-to)	926-932
Number of pages	7
Journal	Journal of the American Academy of Dermatology
Volume	22
Issue number	5 II SUPPL.
State	Published - 1990

ASJC Scopus subject areas

Dermatology

Cite this

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title = "Hermansky-Pudlak syndrome: Case report and clinicopathologic review",

abstract = "The Hermansky-Puklak 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.",

author = "Schachne, {J. P.} and N. Glaser and S. Lee and Y. Kress and M. Fisher",

year = "1990",

language = "English (US)",

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journal = "Journal of the American Academy of Dermatology",

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T1 - Hermansky-Pudlak syndrome

T2 - Case report and clinicopathologic review

AU - Schachne, J. P.

AU - Glaser, N.

AU - Lee, S.

AU - Kress, Y.

AU - Fisher, M.

PY - 1990

Y1 - 1990

N2 - The Hermansky-Puklak 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-Puklak 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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JO - Journal of the American Academy of Dermatology

JF - Journal of the American Academy of Dermatology

IS - 5 II SUPPL.

ER -

Hermansky-Pudlak syndrome: Case report and clinicopathologic review

Abstract

ASJC Scopus subject areas

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