CD1A and familial atrioventricular septal defect: Additionally BRAFV600E mutation was also detected in other two rare histiocytoses: Langerhans-cell histiocytosis (LCH) and Erdheim-Chester disease (ECD) characterized by a phenotype similar to CD1a+ S100+ Langerhans cells and foamy CD68+, CD1a- S100- histiocytes, respectively [15, 92-100].