Systemic form of juvenile xanthogranuloma: report of a case with liver and bone marrow involvement

Area of Science:

• Pediatric Pathology
• Hematology-Oncology
• Dermatopathology

Background:

• Juvenile xanthogranuloma (JXG) is a rare histiocytic disorder typically affecting infants and young children.
• While systemic involvement can occur, bone marrow infiltration is exceptionally uncommon.
• This report highlights a unique presentation of systemic JXG without cutaneous or osseous lesions.

Observation:

• A 2-month-old female infant presented with hepatosplenomegaly, severe anemia, and thrombocytopenia.
• Physical examination revealed an enlarged liver with diffuse yellowish spots, but no skin or bone lesions.
• Pathological examination of bone marrow and liver demonstrated infiltration by specific histiocytes (S-100 negative, CD1a negative, CD68 positive, Factor XIIIa positive) and Touton giant cells.

Findings:

• The diagnosis of juvenile xanthogranuloma was confirmed through histopathological analysis, including electron microscopy ruling out Langerhans cell granules.
• This represents the first documented case of systemic JXG with exclusive involvement of the liver and bone marrow.
• The patient exhibited a gradual disease regression over one year following treatment with Vinblastine and Etoposide.

Implications:

• This case expands the known spectrum of systemic juvenile xanthogranuloma presentations.
• It underscores the importance of considering JXG in infants with unexplained hepatosplenomegaly, anemia, and thrombocytopenia, even without typical skin lesions.
• The successful treatment highlights potential chemotherapeutic strategies for rare, aggressive forms of JXG.