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Fibrillar protein deposits with tubular substructure in a systemic disease beginning as cutis laxa.

BACKGROUND
The homogeneous material found in the skin is commonly identified as amyloid. We describe a previously unknown disease that is caused by proteinaceous deposits and that does not fulfill the criteria of the earlier recognized amyloid diseases.


OBSERVATIONS
The unusual deposits, which were initially found in the dermis, were ultrastructurally composed of fibrillar material with a tubular substructure. Immunohistologically, the material was tested using a large panel of antibodies, and the results revealed that it was unlike any commonly known proteinaceous material. The deposits later spread to other organs and disturbed the vital functions of the body.


CONCLUSIONS
We describe a unique syndrome characterized by fibrillar extracellular deposits that was recognized and differentiated from other similar clinical syndromes by ultrastructural examination. Further biochemical analysis is necessary to identify the origin of the material.