BACKGROUND Chanarin Dorfman Syndrome (CDS) is a rare autosomal recessive disorder characterized by the multisytemic accumulation of neutral lipids inside the cytoplasmic lipid droplets. This condition is caused by mutations in the abhydrolase domain containing 5 gene (ABHD5). In CDS the skin involvement is the prevalent and always observed clinical feature, consisting of a non-bullous congenital ichthyosiform erythroderma (NCIE). Moreover, a variable involvement of the liver and neuromuscular system can be also observed. In this report, we aimed to perform the clinical and genetic characterization of a patient affected by CDS with atypical dermatological findings, considering this rare inborn error of neutral lipid metabolism. METHODS Genomic DNA samples obtained from patient and his parents were used to perform the sequencing of the ABHD5 exons and their intron/exon boundaries. Bioinformatic analyses were performed to investigate the possible effect of the identified mutation on protein structure. RESULTS Here we present the case of a 29-year-old male patient with CDS, who, for long time, has been misdiagnosed as pityriasis rubra pilaris (PRP). He has a history of increasing hyperlipidemia; hepatomegaly associated with hepatosteatosis was also detected. ABHD5 molecular analysis revealed a novel missense mutation, the c.811G > A (p.G271R). Bioinformatic investigations showed that the variant has a deleterious effect on ABHD5 function, probably causing an incorrect folding of the mutant protein. CONCLUSIONS These results highlihts the importance of genetic testing for ABHD5 in unresolved cases of patients presenting unusual skin lesions, that resemble PRP, associated with a history of hyperlipidemia and nonalcoholic fatty liver.

中文翻译：

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Chanarin Dorfman患者的ABHD5基因新突变，具有异常的皮肤病学发现。

背景技术Chanarin Dorfman综合征（CDS）是一种罕见的常染色体隐性遗传疾病，其特征在于中性脂质在细胞质脂质小滴内的多系统累积。这种情况是由含有5个基因（ABHD5）的abhydrolase结构域中的突变引起的。在CDS中，皮肤受累是普遍且始终观察到的临床特征，由非隆起的先天性鱼鳞状红皮病（NCIE）组成。此外，还可以观察到肝脏和神经肌肉系统的可变参与。在本报告中，我们考虑到这种罕见的中性脂质代谢先天性错误，旨在对患有CDS且具有非典型皮肤病学发现的患者进行临床和遗传特征分析。方法使用从患者及其父母那里获得的基因组DNA样本对ABHD5外显子及其内含子/外显子边界进行测序。进行了生物信息学分析，以研究鉴定出的突变对蛋白质结构的可能影响。结果在这里，我们介绍了一名29岁的CDS男性患者，该患者长期以来被误诊为毛疹糠疹（PRP）。他有高脂血症的病史。还检测到与肝脂肪变性相关的肝肿大。ABHD5分子分析揭示了一个新的错义突变，c.811G> A（p.G271R）。生物信息学研究表明，该变体对ABHD5功能具有有害作用，可能导致突变蛋白的错误折叠。