Dorfman-Chanarin Syndrome: Case Report with Multisystem Involvement

Abstract

<P>Dorfman-Chanarin syndrome (DCS) or neutral lipid storage disease with ichthyosis (NLSDI) is a rare autosomal recessive disorder characterized by lipid droplets within leukocytes, skin manifestations mostly in the form of congenital ichthyotic erythroderma, and variable involvement of other organ systems. The most common presenting signs are fine white scaling on an erythematous background. Affected newborns may present with a collodion membrane, and cases have been reported with bilateral ectropion and eclabion, which is an outward turning of the lips. Hair, nails, teeth, and mucosa are usually normal. Affected individuals may have other organ involvement with variable association and different severity. The most frequent target organs are the liver, spleen, muscles, ears, eyes, and the central nervous system. To date, fewer than 50 cases have been reported, and most patients are from Middle Eastern countries or France.</P> <H4>ABOUT THE AUTHORS</H4> <P>Hassoun Mossaab, MD; and Zaher El Zein, MD, are pediatric residents, Children’s Center for Cancer and Blood Diseases, Rafik Hariri University Hospital, Beirut, Lebanon. Peter Noun, MD; Mona Beani, MD; Hassan Foukhoury, MD; and Pierre Mouawad, MD, are attending physicians, Rafik Hariri University Hospital. Adlette Inati, MD, is with Rafik Hariri University Hospital, Division of Pediatric Hematology and Oncology, the Chronic Care Center, Hazmieh, Lebanon, and the University of Balamand, Koura, Lebanon.</P> <P>Address correspondence to: Adlette Inati, MD, Head, Division of Pediatric Hematology Oncology Medical Director, Children’s Center for Cancer and Blood Diseases, Rafik Hariri University Hospital, Beirut, Lebanon, e-mail: <a href="mailto:khorina@dm.net.lb">khorina@dm.net.lb</a>.</P> <P>Dr. Mossaab, Dr. El Zein, Dr. Noun, Dr. Beani, Dr. Foukhoury, Dr. Mouawad, and Dr. Inati have disclosed no relevant financial relationships.</P>