Dorfman-Chanarin syndrome.
A four-year-old girl was brought to the dermatology outpatient department with scaling all over the body since birth. She had history of episodic vomiting and abdominal distension. A dermatological diagnosis of lamellar ichthyosis was made. Abdominal examination revealed a nontender hepatomegaly, fatty liver on ultrasonography and deranged liver function tests. Peripheral blood smear showed lipid vacuoles in the granulocytes consistent with Jordans' anomaly. Similar lipid vacuoles were seen in the basal layer in skin biopsy. An inflammatory infiltrate, moderate fibrosis in the portal tract and diffuse severe fatty change in hepatocytes were seen in liver biopsy. The patient was diagnosed as a case of Dorfman-Chanarin syndrome.
Gandhi
Vijay
V
Department of Dermatology and STD, University College of Medical Sciences and Guru Teg Bahadur Hospital, Delhi, India. vj125@rediffmail.com
Aggarwal
Puneet
P
Dhawan
Jyoti
J
Singh
Usha Rani
UR
Bhattacharya
S N
SN
D002675:Child, Preschool; D005234:Fatty Liver / Q000150:complications; D005260:Female; D005355:Fibrosis; D006098:Granulocytes / Q000378:metabolism / Q000648:ultrastructure; D022781:Hepatocytes / Q000473:pathology; D006529:Hepatomegaly / Q000150:complications; D006801:Humans; D017490:Ichthyosis, Lamellar / Q000150:complications / Q000473:pathology*; D008052:Lipid Metabolism, Inborn Errors / Q000150:complications / Q000473:pathology; D008099:Liver / Q000098:blood supply / Q000473:pathology; D008107:Liver Diseases / Q000150:complications / Q000473:pathology; D011168:Portal System / Q000473:pathology; D012867:Skin / Q000378:metabolism / Q000473:pathology; D013577:Syndrome; D014617:Vacuoles / Q000378:metabolism / Q000473:pathology