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metabolic histiocytic infiltration

Friday 19 October 2018

metabolic histiocytoses; metabolic histiocytic infiltrations

Definition : Infiltrative storage disorders (lysosomal storage diseases) are usually autosomal recessive disorders characterized by deficiency in specific enzymes.

The diagnosis can often be made based on clinical findings, demonstration of specific enzyme deficiencies, and genetic analyses.

Cytologic clues may also suggest the diagnosis. For example, the pathologic hallmark in Gaucher’s disease is the presence of large histiocytes with a characteristic pale blue, wrinkled-paper cytoplasm due to intracytoplasmic substrate deposition.

These cells are strongly positive for periodic acid-Schiff stain, and their presence in bone marrow or other tissues suggests the diagnosis.

See also

- histiocytic infiltration