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

Abstract

The development of xanthogranulomas has been linked to hematologic malignancies in children and adults, based on a number of reports in the literature. In children, a specific association between juvenile xanthogranuloma, neurofibromatosis 1, and juvenile myelomonocytic leukemia has been described. We report a case of a 9-month-old child, without a known diagnosis of neurofibromatosis 1, who presented with hepatosplenomegaly, anemia, thrombocytopenia, and multiple cutaneous nodules, which were confirmed to be juvenile xanthogranulomas upon biopsy. A concurrent work-up showed that the child had juvenile myelomonocytic leukemia. Although cutaneous juvenile xanthogranulomas are benign lesions, in several reported cases they have been shown to herald leukemia. This association between xanthogranulomas and hematologic malignancy is poorly understood. Juvenile xanthogranulomas have a number of morphologic variants and clinical presentations that can be confused with the cutaneous lesions of Langerhans cell histiocytosis and dermatofibroma. Recognition of the broad clinicopathologic spectrum of juvenile xanthogranulomas is critical for proper diagnosis.

Juvenile myelomonocytic leukemia characterized by cutaneous lesion containing Langerhans cell histiocytosis-like cells

“…Objectively, JMML is related to organ infiltration, such as the liver and spleen, and other frequent infiltration sites are the skin and lungs. Skin lesions are reported to appear in 36-48% of patients [2,3], and most of them have been reported as reactive lesions, referred to as ''leukemids'', neurofibromatosis, and xanthogranuloma [10,11]. On the other hand, several cases with leukemic skin infiltration have been reported [12,13].…”