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| CASE REPORT |
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| Year : 2014 | Volume
: 60
| Issue : 3 | Page : 332-334 |
Chanarin-Dorfman syndrome: Clinical report and novel mutation in ABHD5 gene
PM Tamhankar1, S Iyer1, S Sanghavi2, U Khopkar2
1 Genetic Research Center, National Institute for Research in Reproductive Health (NIRRH), Parel, Mumbai, Maharashtra, India
2 Department of Dermatology, Seth GS Medical College and KEM Hospital, Parel, Mumbai, Maharashtra, India
Correspondence Address:
Dr. P M Tamhankar
Genetic Research Center, National Institute for Research in Reproductive Health (NIRRH), Parel, Mumbai, Maharashtra
India
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/0022-3859.138826
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.
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