A syndrome of ichthyosis, hepatosplenomegaly and cerebellar degeneration.
Two brothers are described with ichthyosis, hepatosplenomegaly and signs of cerebellar degeneration. The ichthyosis was similar to autosomal dominant ichthyosis both clinically and biochemically. No metabolic abnormality has yet been identified to account for this previously undescribed triad of abnormalities.
D000368:Aged; D002526:Cerebellar Diseases / Q000235:genetics; D006529:Hepatomegaly / Q000235:genetics; D006801:Humans; D007057:Ichthyosis / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D013163:Splenomegaly / Q000235:genetics; D013577:Syndrome