一名黑人儿童的切-希二氏综合征

Chediak-Higashi syndrome in a black child.

作者信息

Anderson L L, Paller A S, Malpass D, Schmidt M L, Berger T G

机构信息

Department of Medicine, Brooke Army Medical Center, Fort Sam Houston, Texas.

出版信息

Pediatr Dermatol. 1992 Mar;9(1):31-6. doi: 10.1111/j.1525-1470.1992.tb00322.x.

DOI:10.1111/j.1525-1470.1992.tb00322.x

PMID:1574473

Abstract

Chediak-Higashi syndrome (CHS) is an uncommon genetic disorder with a constellation of clinical, pathologic, and immunologic manifestations. It is rarely reported in blacks. Pathognomonic intracellular inclusions in white blood cells are well recognized; however, characteristic abnormal melanin aggregation into giant melanosomes also occurs, as can be readily seen by histologic evaluation of hair. We present a case of CHS in a black child.

摘要

切迪阿克-希加什综合征（CHS）是一种罕见的遗传性疾病，具有一系列临床、病理和免疫表现。在黑人中很少有报道。白细胞中具有诊断意义的细胞内包涵体已得到充分认识；然而，特征性的异常黑色素聚集成巨大黑素体的情况也会发生，通过毛发的组织学评估很容易看出。我们报告一例黑人儿童的CHS病例。