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Journal of Pediatric Hematology/Oncology, 1987
The use of cytochemical, electron microscopic, immunofluorescent, and tissue culture techniques has led to important advances in our understanding of the mechanisms underlying the pathogenesis of the Chediak-Higashi syndrome (CHS). This rare and fatal autosomal recessive disorder is clinically characterized by partial albinism, frequent pyogenic ...
Y, Barak, E, Nir
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The use of cytochemical, electron microscopic, immunofluorescent, and tissue culture techniques has led to important advances in our understanding of the mechanisms underlying the pathogenesis of the Chediak-Higashi syndrome (CHS). This rare and fatal autosomal recessive disorder is clinically characterized by partial albinism, frequent pyogenic ...
Y, Barak, E, Nir
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The Indian Journal of Pediatrics, 2000
A case of Chediak-Higashi syndrome is reported in a four-year-old boy who presented with recurrent chest infection, partial albinism, hyperpigmentation of the extremities and presence of giant granules in leucocytes and melanocytes in the skin. Parental consanguinity was present.
P, Kumar +4 more
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A case of Chediak-Higashi syndrome is reported in a four-year-old boy who presented with recurrent chest infection, partial albinism, hyperpigmentation of the extremities and presence of giant granules in leucocytes and melanocytes in the skin. Parental consanguinity was present.
P, Kumar +4 more
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Der Nervenarzt, 2006
Chediak-Higashi syndrome (CHS) is a rare autosomal recessive lysosomal disorder characterized by frequent infections, oculocutaneous albinism, high bleeding tendency, and various neurological symptoms. Onset in early childhood mostly leads to lymphohistiocytic infiltration into multiple organs, which is usually lethal without bone marrow ...
J, Wolf, C, Jacobi, H, Breer, A, Grau
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Chediak-Higashi syndrome (CHS) is a rare autosomal recessive lysosomal disorder characterized by frequent infections, oculocutaneous albinism, high bleeding tendency, and various neurological symptoms. Onset in early childhood mostly leads to lymphohistiocytic infiltration into multiple organs, which is usually lethal without bone marrow ...
J, Wolf, C, Jacobi, H, Breer, A, Grau
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2009
Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder of children and characterized by variable degrees of partial oculocutaneous albinism, increased susceptibility to recurrent pyogenic and respiratory tract infections with neutropaenia, impaired chemotaxis and bactericidal activity, and bleeding tendency as a result of deficient ...
Nils Peters +199 more
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Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder of children and characterized by variable degrees of partial oculocutaneous albinism, increased susceptibility to recurrent pyogenic and respiratory tract infections with neutropaenia, impaired chemotaxis and bactericidal activity, and bleeding tendency as a result of deficient ...
Nils Peters +199 more
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JAMA: The Journal of the American Medical Association, 1965
Chediak-Higashi syndrome is a lethal systemic disease associated with oculocutaneous albinism, which means that we must revise our concept of albinism as a benign affliction. A search of the literature reveals that 32 out of 34 patients reported probably were true albinos.
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Chediak-Higashi syndrome is a lethal systemic disease associated with oculocutaneous albinism, which means that we must revise our concept of albinism as a benign affliction. A search of the literature reveals that 32 out of 34 patients reported probably were true albinos.
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Chediak-Higashi syndrome in pregnancy
International Journal of Gynecology & Obstetrics, 1993We report the first known case of Chediak-Higashi syndrome in human pregnancy. This rare autosomal recessive disorder is characterized by partial oculocutaneous albinism, decreased leukocyte chemotaxis, susceptibility to infection, and death in childhood. Pathognomonic giant cytoplasmic granules are postulated to be dysfunctional fused lysosomes, which
F V, Price +3 more
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Granulocytes in Chediak–Higashi Syndrome
New England Journal of Medicine, 1968openaire +4 more sources
Hyperpigmentation in Chediak-Higashi syndrome
Journal of the American Academy of Dermatology, 2003We describe a 4 1/2 -year-old Saudi Arabian boy born to consanguineous parents who was initially seen with gradual onset of fever and abdominal distention. The patient was found to have speckled hypopigmentation and hyperpigmentation of the sun-exposed areas.
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