Indian Journal of Paediatric Dermatology

CASE REPORT
Year
: 2020  |  Volume : 21  |  Issue : 1  |  Page : 42--44

Chanarin–Dorfman syndrome


Harshal Ranglani, Pankaj Shukla 
 Department of Dermatology, Goa Medical College, Bambolim, Goa, India

Correspondence Address:
Dr Harshal Ranglani
Department of Dermatology, Goa Medical College, Bambolim - 403 202, Goa
India

Chanarin–Dorfman syndrome is a rare, autosomal recessive disorder of lipid metabolism, occurring due to mutation of abhydrolase domain containing 5 gene, resulting in the accumulation of triglycerides in the skin, muscles, liver, and other organs. This disorder is clinically characterized by the presence of generalized ichthyosis along with organomegaly and other systemic features, while evidence of vacuolated neutrophils and eosinophils on the peripheral blood smear confirms the diagnosis. We report a 3-year-old girl with Chanarin–Dorfman syndrome to generate awareness about this rare condition.


How to cite this article:
Ranglani H, Shukla P. Chanarin–Dorfman syndrome.Indian J Paediatr Dermatol 2020;21:42-44


How to cite this URL:
Ranglani H, Shukla P. Chanarin–Dorfman syndrome. Indian J Paediatr Dermatol [serial online] 2020 [cited 2020 Feb 26 ];21:42-44
Available from: http://www.ijpd.in/article.asp?issn=2319-7250;year=2020;volume=21;issue=1;spage=42;epage=44;aulast=Ranglani;type=0