| Chédiak-Higashi syndrome: report of a case and review of the Japanese literature. | |
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MedLine Citation:
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PMID: 8315113 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We report the case of a Japanese female infant with Chédiak-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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Authors:
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K Fukai; M Ishii; A Kadoya; M Chanoki; T Hamada |
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Publication Detail:
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Type: Case Reports; Journal Article; Review |
Journal Detail:
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Title: The Journal of dermatology Volume: 20 ISSN: 0385-2407 ISO Abbreviation: J. Dermatol. Publication Date: 1993 Apr |
Date Detail:
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Created Date: 1993-07-23 Completed Date: 1993-07-23 Revised Date: 2005-11-16 |
Medline Journal Info:
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Nlm Unique ID: 7600545 Medline TA: J Dermatol Country: JAPAN |
Other Details:
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Languages: eng Pagination: 231-7 Citation Subset: IM |
Affiliation:
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Department of Dermatology, Osaka City University Medical School, Japan. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Chediak-Higashi Syndrome
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pathology* Female Humans Hyperpigmentation / pathology Infant Keratinocytes / pathology Melanins Melanocytes / pathology Sunlight / adverse effects |
| Chemical | |
Reg. No./Substance:
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0/Melanins |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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