Leal I, Merino F, Soto H, Goihman-Yahr M, De Salvo L, Amesty C, Bretaña A
J Am Acad Dermatol. 1985 Aug;13(2 Pt 2):337-42. doi: 10.1016/s0190-9622(85)70171-5.
One case of Chédiak-Higashi syndrome (CHS) in a black male child, born to a consanguineous couple from a rural village in the State of Falcón, is described. At birth the child had marked skin depigmentation and ash-gray hair. A few months later he developed an almost normal black skin color. The diagnosis of CHS was established by the presence of large peroxidase-positive granules in his leukocytes. Neutrophils showed decreased chemotaxis and lack of digestive capacity against Candida albicans. Unusual features included extreme rarity of CHS in blacks, progressive repigmentation of the skin, and an early benign evolution. A high consanguinity index in the village from which this patient originated raised the possibility of the presence of a new cluster of this disease in Venezuela.
本文描述了一例患切迪阿克-希加希综合征（CHS）的黑人男童，其父母为法尔孔州一个乡村的近亲夫妇。患儿出生时皮肤有明显色素脱失，头发呈灰黑色。几个月后，他的皮肤颜色几乎恢复正常。通过其白细胞中存在大量过氧化物酶阳性颗粒确诊为CHS。中性粒细胞趋化性降低，对白色念珠菌缺乏消化能力。不寻常的特征包括CHS在黑人中极为罕见、皮肤进行性色素沉着以及早期良性病程。该患者来自的村庄近亲结婚指数很高，这增加了委内瑞拉存在这种疾病新聚集性病例的可能性。
