sea-blue histiocytosis

A sphingolipidosis characterized by dysfunctional metabolism of sphingolipids.

Signs and symptoms

• Elevated circulating aspartate aminotransferase concentration
• Foam cells
• Thrombocytopenia
• Splenomegaly
• Elevated circulating alanine aminotransferase concentration
• Absent axillary hair
• Cirrhosis

Also known as: Sea-blue histiocyte syndrome