Dorfman-Chanarin syndrome: a neutral lipid storage disorder
Dorfman-Chanarin syndrome: a neutral lipid storage disorder
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DOI：
10.1007/s001050050656
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发表时间：
1997-10-01
期刊：
影响因子：
--
通讯作者：
Wolff, H
中科院分区：
文献类型：
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作者：
Wollenberg, A;Schaller, M;Wolff, H
Dorfman-Chanarin综合征是一种罕见的常染色体隐性遗传性脂质沉积病，皮肤表现为先天性鱼鳞病性红皮病。鱼鳞病性红皮病患者外周血涂片中性粒细胞中脂质空泡的显示有助于诊断。其他器官系统，如中枢神经系统，肝脏，肌肉，耳朵和眼睛，经常涉及。由于Dorfman-Chanarin综合征可能仅表现为皮肤表现，因此应包括在先天性鱼鳞病的鉴别诊断中。建议对所有鱼鳞病患者进行外周血涂片镜检。我们总结了Dorfman-Chanarin综合征的发病机制，诊断，鉴别诊断和治疗方案的现有数据，概述了迄今为止描述的23例患者的临床表现，并报告了一例新的受这种罕见疾病影响的患者。
Dorfman-Chanarin syndrome is a rare, autosomal recessive inherited lipid storage disease with skin manifestations in form of congenital ichthyotic erythroderma. Demonstration of lipid vacuoles in neutrophils from peripherals blood smears in patients with ichthyotic erythroderma leads to the diagnosis. Other organ systems, such as CNS, liver, muscle, ears and eyes, are frequently involved. Since Dorfman-Chanarin syndrome may present with just skin findings, it should be included in the differential diagnosis of the congenital ichthyoses. Microscopic ex amination of peripheral blood smears is recommended in all patients with ichthyosis. We summarize the current data on the pathogenesis, diagnosis, differential diagnosis, and therapeutic options in Dorfman-Chanarin syndrome, give an overview of the clinical manifestations of the 23 patients described thus far and report a new patient affected with this rare disease.