Fukai K, Ishii M, Kadoya A, Chanoki M, Hamada T
Department of Dermatology, Osaka City University Medical School, Japan.
J Dermatol. 1993 Apr;20(4):231-7. doi: 10.1111/j.1346-8138.1993.tb03867.x.
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.
我们报告了一例患有切迪阿克-东综合征的日本女婴病例，其父母为近亲结婚。出生时她皮肤白皙，但三个月大时，暴露于阳光下的皮肤区域出现了明显的色素沉着。血液显微镜检查和电子显微镜检查确诊了该疾病。她一直健康状况良好，直到两岁时患肺炎并伴有明显的肝脾肿大。皮肤科医生和儿科医生了解这种疾病的皮肤表现很重要，因为日晒后色素沉着可能是这种疾病的一个特征性初始表现。
