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. CASE REPORT: 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. CONCLUSION: 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.
[Show abstract][Hide abstract] ABSTRACT: Dorfman-Chanarin syndrome is a rare neutral lipid disorder characterised by icthyosis, hepatic steatosis and multisystemic involvement of varying magnitude. It is an autosomal recessive disease caused by mutations in the ABHD5 gene. We report a consanguineous family of Afgani origin, with four affected siblings who were found to have a novel homozygous nonsense mutation g. [27606 G > T]; [27606 G > T]. The clinical findings were unusual in the form of early cirrhosis and hepatic decompensation in one sibling, presence of corneal opacities in male siblings and tessellated fundus in all affected children. Steatosis was minimal in liver biopsy specimens and all children had low vitamin D levels. Genotype-phenotype correlations have not been possible in Dorfman-Chanarin syndrome and the present report raises further challenges for the same.
European journal of medical genetics 02/2012; 55(3):173-7. DOI:10.1016/j.ejmg.2012.01.013 · 1.47 Impact Factor
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