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Year : 2019  |  Volume : 20  |  Issue : 2  |  Page : 163-165

Dorfman-Chanarin syndrome: An unusual presentation

1 Department of Dermatology, St. Johns Medical College Hospital, Bengaluru, Karnataka, India
2 Department of Clinical Pathology, St. Johns Medical College Hospital, Bengaluru, Karnataka, India

Correspondence Address:
Dr. Carol Lobo
Room 15, Mother Theresa Hostel, St. Johns Medical College Hospital, Kormangala 5th Block, Bengaluru - 560 034, Karnataka
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijpd.IJPD_77_18

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Dorfman-Chanarin syndrome is a rare autosomal recessive neutral lipid storage disorder with congenital ichthyosis characterized by triglyceride deposition in multiple organs. The usual clinical presentation has been reported to correspond to that of nonbullous congenital ichthyosiform erythroderma. We report a case of a 1-year-old boy who presented with minimally scaly figurate plaques with double-edged scaling in the periphery and clinically mimicking Netherton's Syndrome. The diagnosis was confirmed by the presence of characteristic lipid vacuoles in the leukocytes (Jordan's anomaly).

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