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PIGMENTARY CHANGES IN CHEDIAK-HIGASHI SYNDROME

MICROSCOPIC STUDY OF 12 HOMOZYGOUS AND HETEROZYGOUS SUBJECTS*

VICTOR BEDOYA

Department of Pathology, Faculty of Medicine, University of Antioquia, Medellin, Republic of Colombia, S.A.

Formerly visiting scientist at the Laboratory of Pathology, National Cancer Institute. National Institutes of Health, Bethesda, Maryland 20014. USA (1966–1968).

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VICTOR BEDOYA,

VICTOR BEDOYA

Department of Pathology, Faculty of Medicine, University of Antioquia, Medellin, Republic of Colombia, S.A.

Formerly visiting scientist at the Laboratory of Pathology, National Cancer Institute. National Institutes of Health, Bethesda, Maryland 20014. USA (1966–1968).

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First published: October 1971

https://doi.org/10.1111/j.1365-2133.1971.tb14028.x

Citations: 20

Presented at the 12th Annual Meeting of the Colombian Society of Pathology, and 15th Meeting of the Venezuelan Society of Pathology, Cucuta (Colombia)- San Cristóbal (Venezuela), October 8th-l1th, 1969.

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Abstract

Summary.— The skin of 12 patients with the Chediak-Higashi syndrome (C-HS) have been studied by light and electron microscopy. In 6 homozygous patients there was almost complete absence of pigment in some but abundant clumps of enlarged melanin granules in both epidermis and dermis in others. In the dermis melanin was found within histiocytes, endothelial cells, perithelial cells, fibroblasts, Schwann cells, and free in the interstitium. Skin abnormalities were also observed in 6 heterozygotes. Those abnormalities were segmental basal deposition of normal appearing melanin pigment; clumping of slightly enlarged and irregular melanin granules; mild atrophy of the malpighian layer, with scattered cell vacuolization; and abundant melanin pigment within melanophores in the upper dermis where various degrees of mononuclear infiltration with intracytoplasmic inclusions were also observed.

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Citing Literature

Volume85, Issue4

October 1971

Pages 336-347

PIGMENTARY CHANGES IN CHEDIAK-HIGASHI SYNDROME

MICROSCOPIC STUDY OF 12 HOMOZYGOUS AND HETEROZYGOUS SUBJECTS*

Abstract

REFERENCES

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References

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PIGMENTARY CHANGES IN CHEDIAK-HIGASHI SYNDROME

MICROSCOPIC STUDY OF 12 HOMOZYGOUS AND HETEROZYGOUS SUBJECTS*

Abstract

REFERENCES

Citing Literature

References

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