Format

Send to

Choose Destination
See comment in PubMed Commons below
Hautarzt. 1997 Oct;48(10):753-8.

[Dorfman-Chanarin syndrome--a neutral lipid storage disease].

[Article in German]

Author information

1
Dermatologische Klinik und Poliklinik, Ludwig-Maximilians-Universität München.

Abstract

Dorfman-Chanarin syndrome is a rare, autosomal recessive inherited lipid storage disease with skin manifestations in form of congenital ichthyotic erythroderma. Demonstration of lipid vacuoles in neutrophils from peripherals blood smears in patients with ichthyotic erythroderma leads to the diagnosis. Other organ systems, such as CNS, liver, muscle, ears and eyes, are frequently involved. Since Dorfman-Chanarin syndrome may present with just skin findings, it should be included in the differential diagnosis of the congenital ichthyoses. Microscopic examination of peripheral blood smears is recommended in all patients with ichthyosis. We summarize the current data on the pathogenesis, diagnosis, differential diagnosis, and therapeutic options in Dorfman-Chanarin syndrome, give an overview of the clinical manifestations of the 23 patients affected with this rare disease.

PMID:
9441170
[Indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Loading ...
    Support Center