Chanarin-Dorfman Syndrome: Clinical Features of a Rare Lipid Metabolism Disorder

SELİMOĞLU M. A., Esrefoglu M., GÜL M., GÜNGÖR S., Yildirim C., Seyhan M.

PEDIATRIC DERMATOLOGY, cilt.26, sa.1, ss.40-43, 2009 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 26 Sayı: 1
  • Basım Tarihi: 2009
  • Doi Numarası: 10.1111/j.1525-1470.2008.00818.x
  • Dergi Adı: PEDIATRIC DERMATOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.40-43
  • İnönü Üniversitesi Adresli: Evet

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.