PMID: 8938558Nov 1, 1996Paper

Dorfman-Chanarin syndrome: a case with prevalent hepatic involvement

Journal of Hepatology
D MelaS Ricciardi

Abstract

Dorfman-Chanarin syndrome is a very rare condition determined by an autosomal recessive inherited disorder of neutral lipid metabolism. The syndrome is defined by the association of ichthyosiform nonbullous erythroderma, vacuoles in the leukocytes and variable involvement of liver, muscle and central nervous system. Only 19 cases have been described worldwide. We studied a 16-year-old patient with congenital ichthyosis, liver and spleen enlargement and abnormal gamma-glutamyltransferase. Liver biopsy, skin biopsy and blood smear showed abnormal intracellular neutral lipid storage. On the basis of clinical and histological findings, the patient was diagnosed as having Dorfman-Chanarin syndrome. This is the fourth reported Italian case, with a prominent skin and hepatic involvement. Liver biopsy, performed in the first instance, was of great importance in reaching a diagnosis.

References

Jan 1, 1979·Muscle & Nerve·A MirandaL P Rowland
Mar 8, 1975·British Medical Journal·I ChanarinG Stewart
Jan 1, 1988·Dermatologica·R WolfS Pollak
Feb 1, 1988·American Journal of Medical Genetics·S MusumeciD Cutrona
Apr 1, 1985·American Journal of Medical Genetics·M L WilliamsC J Epstein
Aug 1, 1974·Archives of Dermatology·M L DorfmanF Sagher

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Citations

Mar 17, 2001·The British Journal of Dermatology·C Peña-PenabadE Fonseca
Mar 3, 2009·Pediatric Dermatology·Mukadder Ayse SelimogluMuammer Seyhan
Nov 11, 2006·Acta Haematologica·Erdal TaskinMehmet Kilic
Jun 1, 2013·Surgical Pathology Clinics·Ryan M Gill, Sanjay Kakar
Aug 6, 2003·American Journal of Medical Genetics. Part a·Zeinab EI-KabbanySolar M Eisayed
Jan 18, 2021·Liver International : Official Journal of the International Association for the Study of the Liver·Erol Cakmak, Gokhan Bagci

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