Deep juvenile xanthogranuloma: an unusual presentation

Juvenile xanthogranuloma (JXG) is a disorder of histiocytes usually associated with cutaneous lesions. It may present a diagnostic dilemma in the absence of cutaneous lesions and when deeply located. Differentiation of JXG from other childhood histiocytosis syndromes, especially Langerhans' cell histiocytosis (LCH), is important. We describe an unusual case of deep JXG in a 27-month-old girl with multiple omental and peritoneal nodules presenting with ascites. Although a diagnosis of LCH was suspected clinically, the absence of Birbeck granules and S-100 protein and T6 antigen negativity, together with CD68 and factor XIIIa positivity, led us to a diagnosis of JXG. Physicians should be aware of the widening spectrum of manifestations of juvenile xanthogranuloma.