Dorfman-Chanarin syndrome (neutral lipid storage disease). A case report.
We describe the case of a woman from a small town in the south of Spain, with consanguineous parents, who presented with the complete syndrome. The main clinicopathological characteristics are discussed.
Department of Dermatology, Alicante General Hospital, Spain.
J
J
Bañuls
I
I
Betlloch
R
R
Botella
A
A
Sevila
A
A
Morell
P
P
Román
D003241:Consanguinity; D005260:Female; D006801:Humans; D016113:Ichthyosiform Erythroderma, Congenital / Q000473:pathology*; D015603:Keratinocytes / Q000473:pathology; D008052:Lipid Metabolism, Inborn Errors / Q000473:pathology*; D008875:Middle Aged; D013577:Syndrome; D014617:Vacuoles / Q000473:pathology