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Xanthoma disseminatum - External and Internal Eye
See also in: Overview
Other Resources UpToDate PubMed

Xanthoma disseminatum - External and Internal Eye

See also in: Overview
Contributors: Jeffrey M. Cohen MD, Brandon D. Ayres MD, Christopher Rapuano MD, Sunir J. Garg MD, Susan Burgin MD
Other Resources UpToDate PubMed

Synopsis

Xanthoma disseminatum (XD) is a normolipemic form of non-Langerhans cell histiocytosis. XD can present at any age, but the majority of patients with XD present before age 25. Men are more commonly affected than women. XD presents as tan / brown or yellowish papules in a symmetric distribution that favors intertriginous areas and the face, but lesions may generalize.

XD is often associated with underlying systemic involvement. For example, there is a clinical triad of XD that includes cutaneous involvement, mucous membrane involvement (including the mouth, pharynx, larynx, conjunctiva, and cornea), and diabetes insipidus resulting from pituitary gland infiltration. Mucosal lesions are seen in 40%-60% of all XD patients, and diabetes insipidus is seen in about 40% of patients. Involvement has also been seen in the gastrointestinal tract, respiratory tract, central nervous system (CNS), and optic nerve and can cause significant morbidity and mortality. Osteolytic lesions are rare but have been reported.

There is a rare variant with self-healing lesions that resolve without intervention.

The cause of XD is unknown. In addition to diabetes insipidus, it may be associated with hematologic conditions (eg, multiple myeloma, Waldenström macroglobulinemia, monoclonal gammopathy).

Codes

ICD10CM:
D76.3 – Other histiocytosis syndromes

SNOMEDCT:
399970005 – Xanthoma disseminatum

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Differential Diagnosis & Pitfalls

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Therapy

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References

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Last Reviewed: 12/19/2019
Last Updated: 01/16/2020
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Xanthoma disseminatum - External and Internal Eye
See also in: Overview
Xanthoma disseminatum : Bilateral distribution, Eyelids, Face, Trunk, Smooth papules, Multiple skin lesions
Clinical image of Xanthoma disseminatum
Copyright © 2020 VisualDx®. All rights reserved.