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Erdheim-Chester disease associated with chronic myelomonocytic leukemia harboring the same clonal mutation

Extensive xanthelasma-like lesions of the eyelids is the most frequent cutaneous manifestation of ErdheimChester disease (ECD). Recently, mutations activating the MAPK pathway have been found in ECD patients and it has been suggested in the revised classification of histiocytic disorders that all extracutaneous or disseminated juvenile xanthogranulomata with gain-of-function mutation of BRAF, NRAS, KRAS, or MAP2K1, should be considered as ECD. Chronic myelomonocytic leukemia (CMML) is a rare clonal hematopoietic disorder that presents features of both myeloproliferative neoplasm and myelodysplastic syndrome. Its diagnosis requires a persistent peripheral blood monocytosis >1x10/L after exclusion of a reactive monocytosis; myelodysplastic features and/or the presence of an acquired clonal cytogenetic or a mutational abnormality in hematopoietic cells. Specific skin lesions in CMML are rare with an estimated prevalence of 10%. Diffuse or periorbital xanthomatous lesions associated with CMML have been reported. Some authors suggested that xanthomatous lesions may be specific cutaneous involvement of