Medknow Publications on behalf of The Indian Association of Dermatologists, Venereologists and Leprologists (IADVL)
Abstract
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