Chanarin-Dorfman syndrome
Authors:
- S IyerSIS Iyer
- S SanghaviSSS Sanghavi
- U KhopkarUKU Khopkar
Open Access
- 1 January 2014
- journal article
- case report
- Published by Wolters Kluwer Health in Journal of Postgraduate Medicine
- Vol. 60 (3) , 332-334
Abstract
Chanarin-Dorfman syndrome (CDS) is a multisystem, autosomal recessive genetic disorder characterized by congenital non-bullous ichthyosiform erythroderma with accumulation of lipid droplets in granulocytes and basal keratinocytes. An 18-month-old female child presented with typical dermatological features of CDS. She was born as a collodion baby. Liver biopsy showed micronodular cirrhosis along with macrovesicular hepatic steatosis. Sequencing of all exons and exon-intron boundaries of the ABHD5 gene showed that the patient was homozygous for a novel mutation g.24947delG (c.773 + 1delG) in intron 5. This is the first Indian child with mutation proven CDS.Keywords
This publication has 9 references indexed in Scilit:
- Novel nonsense mutation of ABHD5 in Dorfman–Chanarin syndrome with unusual findings: A challenge for genotype–phenotype correlationEuropean Journal of Medical Genetics, 2012
- Beneficial effect of acitretin in Chanarin-Dorfman syndromeClinical and Experimental Dermatology, 2011
- Clinical and genetic characterization of chanarin-dorfman syndrome patients: first report of large deletions in the ABHD5 geneOrphanet Journal of Rare Diseases, 2010
- MutationTaster evaluates disease-causing potential of sequence alterationsNature Methods, 2010
- Dorfman-Chanarin syndrome: A rare neutral lipid storage diseaseIndian Journal of Pathology and Microbiology, 2010
- Neutral lipid storage disease: genetic disorders caused by mutations in adipose triglyceride lipase/PNPLA2orCGI-58/ABHD5American Journal of Physiology-Endocrinology and Metabolism, 2009
- Human Gene Mutation Database (HGMD®): 2003 updateHuman Mutation, 2003
- Ichthyosiform Dermatosis With Systemic LipidosisArchives of Dermatology, 1974
- Jordans’ Anomaly in White Blood CellsBlood, 1966