Cases reported "Chediak-Higashi Syndrome"

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1/3. chediak-higashi syndrome.

    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. Though uncommon, hyperpigmentation of sun exposed areas may be the initial symptom in chediak-higashi syndrome.
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2/3. hyperpigmentation in chediak-higashi syndrome.

    We 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. The finding of large cytoplasmic granules in blood and bone marrow leukocytes established the diagnosis of chediak-higashi syndrome. We review the literature on this finding, which might be underreported, especially in darkly pigmented races.
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3/3. chediak-higashi syndrome: report of a case and review of the Japanese literature.

    We report the case of a Japanese female infant with chediak-higashi syndrome born to consanguineous parents. At birth she had fair skin but, when she was three months old, marked hyperpigmentation of the sun-exposed skin areas developed. Microscopic examination of blood and electron microscopic examination confirmed the diagnosis. She enjoyed good health until she was two years old when she had pneumonia with marked hepatosplenomegaly. It is important for dermatologists and pediatricians to be aware of the skin manifestations of this disease because hyperpigmentation after sun exposure may be a characteristic, initial feature of this condition.
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