Add to ORKGChanarin-Dorfman syndrome (CDS) is a rare, autosomal recessive inherited lipid storage disease with skin manifestation in the form of congenital ichthyotic erythroderma.1 Demonstration of lipid vacuoles in neutrophils from peripheral blood smear in a patient with ichthyotic erythroderma leads to a correct diagnosis.2 Other organ systems such as CNS, liver, muscles, ears and eyes are frequently involved. We report a case of Chanarin-Dorfman syndrome which was picked up when a patient presented with nephrotic syndrome, which was an unusual presentation of DCS. To the best of our knowledge, this is the first case to be reported from Saudi Arabia. Case Report A five-year-old Saudi girl, a known case of congenital ichthyosiform erythroderma (CIE...
We describe the clinical features, muscle pathology features, and molecular studies of seven patient...
Chanarin-Dorfman Syndrome (CDS); is a rare lipid storage disease with ichthyosis, hepatomegaly, myop...
Chanarin-Dorfman Syndrome (CDS) is caused by a defect in the CGI-58/ABHD5 gene resulting in a defici...
Chanarin-Dorfman syndrome (CDS) is a very rare autosomal recessive inherited neutral lipid metabolis...
Chanarin-Dorfman syndrome (CDS) is a very rare autosomal recessive inherited neutral lipid metabolis...
Chanarin Dorfman Syndrome is a multisystem inherited metabolic disorder associated with congenital i...
Chanarin Dorfman syndrome (CDS) is a very rare neutral lipid metabolism disorder with multisystem in...
Chanarin-Dorfman syndrome (CDS) is a very rare autosomal recessive inherited neutral lipid metabolis...
Abstract Background Chanarin Dorfman Syndrome (CDS) is a rare autosomal recessive disorder character...
Dorfman-Chanarin syndrome is a rare, autosomal recessive disorder characterized by congenital ichthy...
Chanarin Dorfman syndrome is a multisystem, very rare, autosomal recessive lipid storage disorder, c...
PubMedID: 17095855Background: Dorfman-Chanarin syndrome is a rare, autosomal recessive, inherited, l...
Dorfman-Chanarin syndrome is a rare autosomal recessive neutral lipid storage disorder with congenit...
Chanarin-Dorfman syndrome is a multisystem inherited metabolic disorder associated with congenital i...
We describe the clinical features, muscle pathology features, and molecular studies of seven patient...
We describe the clinical features, muscle pathology features, and molecular studies of seven patient...
Chanarin-Dorfman Syndrome (CDS); is a rare lipid storage disease with ichthyosis, hepatomegaly, myop...
Chanarin-Dorfman Syndrome (CDS) is caused by a defect in the CGI-58/ABHD5 gene resulting in a defici...
Chanarin-Dorfman syndrome (CDS) is a very rare autosomal recessive inherited neutral lipid metabolis...
Chanarin-Dorfman syndrome (CDS) is a very rare autosomal recessive inherited neutral lipid metabolis...
Chanarin Dorfman Syndrome is a multisystem inherited metabolic disorder associated with congenital i...
Chanarin Dorfman syndrome (CDS) is a very rare neutral lipid metabolism disorder with multisystem in...
Chanarin-Dorfman syndrome (CDS) is a very rare autosomal recessive inherited neutral lipid metabolis...
Abstract Background Chanarin Dorfman Syndrome (CDS) is a rare autosomal recessive disorder character...
Dorfman-Chanarin syndrome is a rare, autosomal recessive disorder characterized by congenital ichthy...
Chanarin Dorfman syndrome is a multisystem, very rare, autosomal recessive lipid storage disorder, c...
PubMedID: 17095855Background: Dorfman-Chanarin syndrome is a rare, autosomal recessive, inherited, l...
Dorfman-Chanarin syndrome is a rare autosomal recessive neutral lipid storage disorder with congenit...
Chanarin-Dorfman syndrome is a multisystem inherited metabolic disorder associated with congenital i...
We describe the clinical features, muscle pathology features, and molecular studies of seven patient...
We describe the clinical features, muscle pathology features, and molecular studies of seven patient...
Chanarin-Dorfman Syndrome (CDS); is a rare lipid storage disease with ichthyosis, hepatomegaly, myop...
Chanarin-Dorfman Syndrome (CDS) is caused by a defect in the CGI-58/ABHD5 gene resulting in a defici...
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