Chander Ram, Varghese Bincy, Garg Taru, Mittal Saurabh, Singh Smita
Department of Dermatology & STD, Lady Hardinge Medical College, Shahid Bhagat Singh Marg, New Delhi, India.
Dermatol Online J. 2011 Apr 15;17(4):7.
Dorfman-Chanarin syndrome (DCS) is a very rare disorder of lipid metabolism that exhibits an autosomal recessive pattern of inheritance. Besides ichthyosis, systemic manifestations may be present. We report two female siblings with DCS who presented with non-bullous ichthyosiform erythroderma (NBIE). A peripheral blood smear demonstrated Jordan anomaly. This case emphasizes the need for peripheral blood smear screening in patients with congenital ichthyosis.
A 2½-year-old female child and her 1-month-old sibling presented with generalized erythema and scaling, which was suggestive of NBIE. Hepatomegaly and ectropion were seen in the older sibling. A peripheral blood smear of both the patients revealed Jordan anomaly. Serum biochemistry revealed abnormal liver function tests, abnormal lipid profile, and elevated muscle-derived enzymes. A diagnosis of Dorfman-Chanarin syndrome was made in both the siblings. Screening for Jordan anomaly in the family members including the parents and maternal and paternal grandmothers was negative.
The peculiarities in our case include the presence of this disorder in both female siblings along with alopecia in the younger sibling. Hyperlipidemia, noted in one of our cases, is also not a common association. Diagnosing DCS is fairly simple and a high index of suspicion may lead to higher rates of detection of this rare disorder.
Dorfman-Chanarin综合征（DCS）是一种非常罕见的脂质代谢紊乱疾病，呈常染色体隐性遗传模式。除鱼鳞病外，还可能出现全身表现。我们报告了两名患有DCS的女性同胞，她们表现为非大疱性鱼鳞病样红皮病（NBIE）。外周血涂片显示有乔丹氏异常。该病例强调了对先天性鱼鳞病患者进行外周血涂片筛查的必要性。
一名2岁半的女童及其1个月大的同胞出现全身红斑和脱屑，提示为NBIE。年长的同胞有肝肿大和睑外翻。两名患者的外周血涂片均显示有乔丹氏异常。血清生化检查显示肝功能检查异常、血脂异常以及肌肉源性酶升高。两名同胞均被诊断为Dorfman-Chanarin综合征。对包括父母以及祖父母在内的家庭成员进行乔丹氏异常筛查结果为阴性。
我们病例的特点包括两名女性同胞均患有该疾病，以及年幼的同胞有脱发。我们其中一个病例中发现的高脂血症也并非常见的关联表现。诊断DCS相当简单，高度怀疑可能会提高这种罕见疾病的检出率。
