Kaassis C, Ginies J L, Berthelot J, Verret J L
Service de Dermatologie, CHU Angers.
Ann Dermatol Venereol. 1998 May;125(5):317-9.
Dorfman-Chanarin syndrome is an uncommon condition characterized by non-bullous congenital ichtyosiform erythrodermia and lipid vacuoles in circulating leukocytes.
We report an unusual presentation in a child who had a dry congenital ichtyosiform erythroderma. Blood smears revealed lipid vacuoles in granulocyte cytoplasm, leading to the diagnosis of Dorfman-Chanarin syndrome. The child also had liver and ophthalmologic involvement.
Dorfman-Chanarin syndrome is a rare autosomic recessive hereditary disease (27 cases reported in the literature) related to the accumulation of neutral lipids in organ tissues. Clinical manifestations are dry congenital ichtyosiform erythroderma and lipid vacuoles in circulating granulocytes. The syndrome may be expressed more or less severely in several organs. Diagnosis is confirmed on blood smears. The vacuoles can also be observed in smears of heterozygous subjects and can serve as a screening test. The pathogenesis of Dorfman-Chanarin syndrome is poorly understood but appears to be related to perturbed intracellular triglyceride catabolism. Treatment is symptomatic.
Dorfman-Chanarin综合征是一种罕见疾病，其特征为非大疱性先天性鱼鳞病样红皮病和循环白细胞中的脂质空泡。
我们报告了一名患有干性先天性鱼鳞病样红皮病儿童的不寻常表现。血液涂片显示粒细胞胞质中有脂质空泡，从而诊断为Dorfman-Chanarin综合征。该患儿还伴有肝脏和眼科受累。
Dorfman-Chanarin综合征是一种罕见的常染色体隐性遗传病（文献报道27例），与中性脂质在器官组织中的蓄积有关。临床表现为干性先天性鱼鳞病样红皮病和循环粒细胞中的脂质空泡。该综合征在多个器官中的表现可能轻重不一。通过血液涂片确诊。杂合子受试者的涂片也可观察到空泡，可作为筛查试验。Dorfman-Chanarin综合征的发病机制尚不清楚，但似乎与细胞内甘油三酯分解代谢紊乱有关。治疗以对症治疗为主。
