Dorfman-Chanarin syndrome: a case with prevalent hepatic involvement

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,...

Full description

Saved in:
Bibliographic Details
Published in:Journal of hepatology 1996-11, Vol.25 (5), p.769-771
Main Authors: Mela, Donatella, Artom, Alberto, Goretti, Riccardo, Varagona, Giuseppe, Riolfo, Marusca, Ardoino, Silvia, Sanguineti, Giuliana, Vitali, Alessandro, Ricciardi, Sandro
Format: Article
Language:English
Subjects:
Adolescent
Biological and medical sciences
Biopsy, Needle
Dorfman-Chanarin syndrome
Errors of metabolism
Genes, Recessive
Humans
Ichthyosiform Erythroderma, Congenital - pathology
Ichthyosis
Italy
Leukocytes - ultrastructure
Leukocytes vacuoles
Lipid Metabolism, Inborn Errors - genetics
Lipid Metabolism, Inborn Errors - pathology
Lipid storage disease
Lipids (lysosomal enzyme disorders, storage diseases)
Liver - pathology
Male
Medical sciences
Metabolic diseases
Spleen - pathology
Syndrome
Vacuoles - pathology
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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 dignosis.
ISSN:0168-8278
1600-0641
DOI:10.1016/S0168-8278(96)80251-0