We describe a child with a solitary dendritic cell (DC) tumor positive for S- 100 protein,CD1a, andHLA- DRwith the clinical and histopathologic features of a so- called solitary variant of congenital self- healing Has...
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We describe a child with a solitary dendritic cell (DC) tumor positive for S- 100 protein,CD1a, andHLA- DRwith the clinical and histopathologic features of a so- called solitary variant of congenital self- healing Hashimoto- Pritzker reticulohistiocytosis (CSHRH). CSHRH is a spontaneously regressing, benign form of Langerhans cell histiocytosis (LCH) and was thought to be a histiocytosis consisting of precursor Langerhans cells. In our study the tumor cells did not express CD68, indicating that they representmature DCs. Because of the negative finding for Langerin, it cannot be assessed whether the tumor consists of terminally mature Langerhans cells that have lost Langerin expression upon maturation or of mature dermal DCs. This case demonstrates that the progress in DC biology necessitates reevaluation of our knowledge of LCH to better understand the different variants of the disease. Therefore the literature on CSHRH is reviewed in light of present knowledge on cutaneous DC immunology.
A 44- day- old male infant with familial hemophagocytic lymphohistiocytosis (FHL) associated with the MUNC13- 4 mutation is reported. He presented with fever and poor feeding, lymphocytosis with thrombocytopenia and C...
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A 44- day- old male infant with familial hemophagocytic lymphohistiocytosis (FHL) associated with the MUNC13- 4 mutation is reported. He presented with fever and poor feeding, lymphocytosis with thrombocytopenia and CSF pleocytosis without virological explanation. On the basis of progressive hyperferritinemia (1.323 ng/ml), anemia (hemoglobin: 5.2 g/dl), hypertriglyceridemia (547 mg/dl) and increased LDH (1063 IU/l) with hemophagocytosis in the bone marrow, hemophagocytic lymphohistiocytosis was diagnosed. He showed a good response to corticosteroid therapy and the disease was stable for more than 5 months. Thereafter, he suffered from central nervous system complications, and successfully underwent unrelated cord blood stem cell transplantation. A remission was observed for more than 2 years, with mild mental retardation. Genetic analysis revealed that he had a compound heterozygous mutation of MUNC13- 4; namely a novel 2163G > A mutation resulting in W721X, and 754- 1G > C resulting in a premature stop codon in this gene. Western blot analysis showed the complete loss of the MUNC13- 4 protein, whereas other molecules associated with the SNARE systems were detected at normal levels. Conclusion. FHL may have a broad clinical spectrum, and further analysis on its phenotype- genotype association is required to establish an appropriate treatment strategy, including immunochemotherapy and stem cell transplantation in the future.
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