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Diffuse-plane normolipaemic xanthoma with aortic-valve xanthoma.

R K Winkelmann¹, M T McEvoy

¹Department of Dermatology, Mayo Clinic, Rochester, Minnesota.

Clinical and Experimental Dermatology

|January 1, 1991

Summary

Diffuse-plane normolipaemic xanthomatosis can affect mucous membranes, conjunctiva, and aortic valves. This rare condition may stem from histiocytosis rather than metabolic issues, as indicated by monoclonal protein and hypocomplementaemia.

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Area of Science:

Cardiovascular Medicine
Dermatology
Immunology

Background:

Diffuse-plane normolipaemic xanthomatosis is a rare condition characterized by widespread xanthomas without hyperlipidemia.
Xanthomatosis typically affects the skin and mucous membranes, but cardiac involvement is exceptionally rare.

Observation:

A case study of a patient presenting with diffuse-plane normolipaemic xanthomatosis.
The patient exhibited xanthomatosis of the mucous membranes, conjunctiva, and notably, the aortic valve.
Laboratory findings included the presence of a monoclonal protein and hypocomplementaemia.

Findings:

The observed xanthomatous lesions, including aortic-valve xanthomatosis, were likely secondary to histiocytosis of involved tissues.
The presence of monoclonal protein and hypocomplementaemia suggests a non-metabolic etiology for the xanthomas.

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This represents the first reported instance of heart-valve xanthomatization in the context of diffuse-plane normolipaemic xanthomatosis.

Implications:

This case expands the known clinical spectrum of diffuse-plane normolipaemic xanthomatosis.
It highlights the potential for systemic and cardiac involvement in histiocytic disorders.
Further research is warranted to elucidate the pathogenesis and management of such rare presentations.