Prolonged severe pancytopenia preceding the cutaneous lesions of juvenile xanthogranuloma

Area of Science:

• Pediatric Hematology
• Dermatopathology
• Oncology

Background:

• Juvenile xanthogranuloma (JXG) is a rare, benign histiocytic disorder typically affecting infants and children.
• While often presenting with skin lesions, visceral involvement can occur, posing diagnostic challenges.

Observation:

• A 2-month-old infant presented with progressive pancytopenia, fever, anemia, and hepatosplenomegaly, mimicking hemophagocytic lymphohistiocytosis (HLH) or juvenile myelomonocytic leukemia (JMML).
• Skin lesions developed, and an 8-month-old infant's elbow papule biopsy confirmed JXG.
• Bone marrow examination revealed foamy cells and hemophagocytosis by histiocytes.

Findings:

• The case highlights a rare presentation of JXG with significant bone marrow failure.
• Histopathological examination of bone marrow confirmed the presence of characteristic foamy cells and hemophagocytosis.

Implications:

• Multisystemic JXG with bone marrow failure in infancy requires consideration as an aggressive entity, despite JXG's generally benign nature.
• Prompt diagnosis and appropriate therapeutic interventions, such as etoposide and vinblastine plus prednisolone, can lead to disease improvement.