Chanarin-Dorfman Syndrome: Clinical Features of a Rare Lipid Metabolism Disorder
Küçük Resim Yok
Tarih
2009
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Wiley-Blackwell Publishing, Inc
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
Chanarin-Dorfman syndrome (CDS) is a very rare neutral lipid metabolism disorder with multisystem involvement. In order to not underdiagnose the cases, screening of lipid vacuoles in neutrophils from peripheral blood smears in patients with ichthyosiform erythroderma is needed. Few case reports revealing ultrastructural findings of skin and especially liver in that disorder were observed. Here we discuss clinical and electron microscopic findings of two siblings with CDS.
Açıklama
Anahtar Kelimeler
Storage Disease, Fatty Liver, Ichthyosis, Molecules, Adhesion
Kaynak
Pediatric Dermatology
WoS Q Değeri
Q3
Scopus Q Değeri
N/A
Cilt
26
Sayı
1
