Document Detail

Dorfman-Chanarin syndrome: a case with prevalent hepatic involvement.
MedLine Citation:
PMID:  8938558     Owner:  NLM     Status:  MEDLINE    
BACKGROUND/AIMS: 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. METHODS: 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. RESULTS/CONCLUSION: 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.
D Mela; A Artom; R Goretti; G Varagona; M Riolfo; S Ardoino; G Sanguineti; A Vitali; S Ricciardi
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Journal of hepatology     Volume:  25     ISSN:  0168-8278     ISO Abbreviation:  J. Hepatol.     Publication Date:  1996 Nov 
Date Detail:
Created Date:  1997-03-14     Completed Date:  1997-03-14     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  8503886     Medline TA:  J Hepatol     Country:  DENMARK    
Other Details:
Languages:  eng     Pagination:  769-71     Citation Subset:  IM    
Department of Internal Medicine, Ospedale S. Corona, Pietra Ligure, Italy.
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MeSH Terms
Biopsy, Needle
Genes, Recessive*
Ichthyosiform Erythroderma, Congenital / pathology*
Leukocytes / ultrastructure
Lipid Metabolism, Inborn Errors / genetics*,  pathology
Liver / pathology*
Spleen / pathology*
Vacuoles / pathology

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