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切-东综合征中的色素沉着过度。

Hyperpigmentation in Chediak-Higashi syndrome.

作者信息

Al-Khenaizan Sultan

机构信息

Division of Dermatology, Department of Medicine, King Fahad National Guard Hospital, Riyadh, Saudi Arabia.

出版信息

J Am Acad Dermatol. 2003 Nov;49(5 Suppl):S244-6. doi: 10.1016/s0190-9622(03)00123-3.

DOI:10.1016/s0190-9622(03)00123-3
PMID:14576641
Abstract

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.

摘要

我们描述了一名4岁半的沙特阿拉伯男孩,其父母为近亲结婚。该男孩最初表现为逐渐出现发热和腹部膨隆。患者在暴露于阳光的部位出现斑点状色素减退和色素沉着。血液和骨髓白细胞中发现大的细胞质颗粒,从而确诊为切-希二氏综合征。我们回顾了关于这一发现的文献,该发现可能未得到充分报道,尤其是在肤色较深的种族中。

相似文献

1
Hyperpigmentation in Chediak-Higashi syndrome.切-东综合征中的色素沉着过度。
J Am Acad Dermatol. 2003 Nov;49(5 Suppl):S244-6. doi: 10.1016/s0190-9622(03)00123-3.
2
Chediak-Higashi syndrome - a report of two cases with unusual hyperpigmentation of the face.切迪阿克-希加什综合征——两例面部异常色素沉着病例报告。
Turk Patoloji Derg. 2011;27(3):246-8. doi: 10.5146/tjpath.2011.01082.
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Mixed hyperpigmentation and hypopigmentation of iris and choroid in Chediak-Higashi syndrome.切-东综合征中虹膜和脉络膜的混合性色素沉着过多与色素沉着过少。
J AAPOS. 2013 Oct;17(5):558-60. doi: 10.1016/j.jaapos.2013.06.003.
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Chediak-Higashi syndrome.切迪阿克-希加综合征
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Chediak-Higashi syndrome presenting in accelerated phase.呈加速期表现的切-希二氏综合征
J Coll Physicians Surg Pak. 2012 Aug;22(8):539-41.
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[Chediak-Higashi syndrome in a case].[一例切-东综合征]
Zhonghua Er Ke Za Zhi. 2005 Aug;43(8):638-9.
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Rapid ultrastructural detection of success or failure after bone marrow transplantation in the Chediak-Higashi syndrome.骨髓移植后 Chediak-Higashi 综合征成功或失败的快速超微结构检测。
Platelets. 2013;24(1):71-4. doi: 10.3109/09537104.2011.654293. Epub 2012 Jun 27.
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Chédiak-Higashi syndrome: report of a case and review of the Japanese literature.切迪阿克-东综合征:一例报告及日本文献综述
J Dermatol. 1993 Apr;20(4):231-7. doi: 10.1111/j.1346-8138.1993.tb03867.x.
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[Two adult siblings with Chédiak-Higashi syndrome presenting as hyperpigmentation of the skin and the iris].[两名患有切-希二氏综合征的成年兄弟姐妹,表现为皮肤和虹膜色素沉着过度]
Rinsho Shinkeigaku. 1999 Jul;39(7):735-8.
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Chediak-Higashi syndrome presenting in accelerated phase: A case report and literature review.加速期出现的切-希综合征:一例报告及文献复习
Hematol Oncol Stem Cell Ther. 2016 Jun;9(2):71-5. doi: 10.1016/j.hemonc.2015.07.002. Epub 2015 Aug 1.

引用本文的文献

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Contribution of Cytology to the Diagnosis of Chediak-Higashi Syndrome.细胞学对切-东综合征诊断的贡献
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2
Spectrum of mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature.Chediak-Higashi 综合征突变谱:新型变异的报告及文献综述。
J Med Genet. 2024 Feb 21;61(3):212-223. doi: 10.1136/jmg-2023-109420.
3
Light Microscopy and Polarized Microscopy: A Dermatological Tool to Diagnose Gray Hair Syndromes.
光学显微镜和偏振显微镜:诊断白发综合征的一种皮肤科工具。
Int J Trichology. 2017 Jan-Mar;9(1):38-41. doi: 10.4103/ijt.ijt_21_16.
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Accelerated Phase of Chediak-Higashi Syndrome at Initial Presentation: A Case Report of an Uncommon Occurrence in a Rare Disorder.初诊时呈现的切-东综合征加速期:罕见疾病中罕见情况的一例报告
J Clin Diagn Res. 2015 Dec;9(12):ED13-4. doi: 10.7860/JCDR/2015/15430.6906. Epub 2015 Dec 1.
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Silvery Hair with Speckled Dyspigmentation: Chediak-Higashi Syndrome in Three Indian Siblings.伴有斑点状色素沉着异常的银发:三名印度兄弟姐妹患有的切迪阿克-希加希综合征
Int J Trichology. 2015 Jul-Sep;7(3):133-5. doi: 10.4103/0974-7753.167462.
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Hyperpigmentary disorders in children: A hospital-based study in a tertiary care center.儿童色素沉着障碍:在一家三级医疗中心进行的基于医院的研究。
Indian Dermatol Online J. 2013 Apr;4(2):148-52. doi: 10.4103/2229-5178.110641.