Xanthoma disseminatum in Child
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).
D76.3 – Other histiocytosis syndromes
399970005 – Xanthoma disseminatum
Differential Diagnosis & Pitfalls