Ichthyosis and neutral lipid storage disease (Dorfman-Chanarin syndrome).
Ichthyosis and neutral lipid storage disease (INLSD) is a nonlysosomal, multisystemic, triglyceride storage disorder. It is characterized by nonbullous congenital ichthyosiform erythroderma (NBCIE), leukocyte vacuoles, and variable involvement of the liver, muscles, eyes, and central nervous system. In our patient fat-containing vacuoles were also demonstrated in the epidermis. In patients with NBCIE, the diagnosis of INLSD is readily made by direct examination of a peripheral blood smear demonstrating cytoplasmic lipid vacuoles within most granulocytes and monocytes.
Venencie
P Y
PY
Service d'hépatologie infantile & INSERM U 56, C.H.U. Bicêtre, Kremlin-Bicêtre, France.
Armengaud
D
D
Foldès
C
C
Vieillefond
A
A
Coulombel
L
L
Hadchouel
M
M
D002675:Child, Preschool; D006801:Humans; D007057:Ichthyosis / Q000209:etiology* / Q000473:pathology; D008064:Lipidoses / Q000150:complications* / Q000235:genetics / Q000473:pathology; D008297:Male; D008854:Microscopy, Electron; D012867:Skin / Q000473:pathology; D013577:Syndrome