Prolonged severe pancytopenia preceding the cutaneous lesions of juvenile xanthogranuloma

Abstract

We report a case of juvenile xanthogranuloma (JXG) having progressive pancytopenia for 6 months until the proliferating skin lesions. A 2-month-old infant presented recurrent fever, anemia, and hepatosplenomegaly mimicking hemophagocytic lymphohistiocytosis (HLH) or juvenile myelomonocytic leukemia (JMML). At 8 months of age, the biopsy of a growing papule on the elbow made the diagnosis. Bone marrow (BM) specimens showed clustering foamy cells including hemophagocytosis by histiocytes. Treatment with etoposide followed by vinblastine plus prednisolone (PSL) therapy improved the disease. Although JXG is a benign non-Langerhans cell histiocytosis, the multisystem-visceral form should be considered as a potential aggressive disease when associated with BM failure in early infancy.

Baby with neonatal systemic juvenile xanthogranuloma born within a cross-cousin marriage

“…12,19,20 Histiocytic infiltrations of the dermis have been detected in the skin biopsies; moreover, lung and colon biopsies confirmed the diagnosis of JXG histopathologically and immunohistochemically.…”

Cutaneous Xanthogranulomas, Hepatosplenomegaly, Anemia, and Thrombocytopenia as Presenting Signs of Juvenile Myelomonocytic Leukemia

“…[5] Death has resulted in exceptional cases of congenital systemic JXG. [4,5] The bone marrow can be involved in multisystem xanthogranuloma, causing hematologic abnormalities, [4][5][6] which can mimic leukemia.…”

Juvenile Myelomonocytic Leukemia Presenting With Features of Neonatal Hemophagocytic Lymphohistiocytosis and Cutaneous Juvenile Xanthogranulomata and Successfully Treated With Allogeneic Hemopoietic Stem Cell Transplant

“…The pancytopenia may even precede the development of the skin lesions. 9 JXG is a rare disease and although systemic disease occurs, 2,3,12 involvement of the blood and marrow is exceptionally rare with just a handful of cases. 9,10 Treatment for systemic disease has been given -either HLH-type as here 7,9 or of the type given to children with Langerhans cell histiocytosis.…”

“…9 JXG is a rare disease and although systemic disease occurs, 2,3,12 involvement of the blood and marrow is exceptionally rare with just a handful of cases. 9,10 Treatment for systemic disease has been given -either HLH-type as here 7,9 or of the type given to children with Langerhans cell histiocytosis. 13 Such treatment may be effective but there has been death in these children with such disease.…”

“…HLH has been reported in disseminated, but not localized, JXG. 9,10 JMML is a rare hematologic neoplasm that usually presents in infancy and early childhood. Its frequency may be increased in certain genetic conditions such as NF1 and Noonan syndrome and acquired mutation in RAS and PTPN11 may be pathogenic.…”