[Xanthoma disseminatum with asymptomatic multisystem involvement].

Area of Science:

• Dermatology
• Histiocytosis
• Oncology

Background:

• Xanthogranulomas are rare non-Langerhans histiocytoses, with Xanthoma disseminatum (XD) being a specific subtype.
• XD typically involves skin and mucous membranes, but can present with asymptomatic multisystemic involvement.

Observation:

• A 28-year-old man presented with facial xanthomatous lesions, later found to have gastric, lung, and potential bone involvement.
• Histopathology confirmed a histiocytic infiltrate positive for CD68 and negative for CD1a, consistent with non-Langerhans histiocytosis.
• The patient had no ophthalmic complications, diabetes insipidus, or monoclonal gammopathy.

Findings:

• Localized facial and mucosal lesions in this XD case revealed asymptomatic multisystemic non-Langerhans histiocytosis.
• Diagnosis was confirmed via clinical, histological, and immunohistochemical findings.
• Treatment with corticosteroids and thalidomide led to significant regression of cutaneous lesions.

Implications:

• This case highlights the importance of screening for visceral involvement in all xanthogranulomas, even with seemingly localized cutaneous manifestations.
• Accurate diagnosis of XD relies on a combination of clinical and histopathological assessments.
• Effective management of XD is challenging due to its rarity and variable presentation.