Deep Juvenile Xanthogranuloma: An Unusual Presentation

Abstract

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.

Juvenile xanthogranuloma presenting as a large neck mass and ocular complications: a diagnostic and therapeutic dilemma

“…The skin of the head, neck and trunk are the most common sites of involvement, but involvement of extracutaneous organs such as the brain, eye, spleen, bones, central nervous system, heart, liver, adrenal glands and mucus glands have also been reported 1–9. Although the cause of the disease is not clear, some believe that overproduction and accumulation of dendritic cells could lead to various symptoms based on location 1 2. JXG is sometimes misdiagnosed or spontaneously regresses in children, so it seems that the incidence rate is higher than the number of reported cases.…”

“…Juvenile xanthogranuloma (JXG) is an uncommon non-Langerhans histiocytic disorder that mostly affects the skin 1. Extracutaneous sites such as the central nervous system, eye, salivary glands, larynx, heart, liver, spleen, colon, retroperitoneum, kidney, adrenal glands, bone and mucous membranes may also be involved, although this is rare 1–9.…”

“…Cutaneous lesions are self-limiting and usually regress spontaneously over time, although sometimes they do require treatment, but systemic involvement is rare 4 7 8. Only a few literature reviews have been published about the pathogenesis, prognosis and treatment guidelines of this condition 1. The eye, especially the uveal tract, is the most frequent site of involvement in an extracutaneous manifestation 3 5 6.…”

Juvenile Xanthogranuloma

“…Birbeck granules are absent, as is reactivity for CD1a and other markers of Langerhans type histiocytes. 10,16 The differential diagnosis of juvenile xanthogranuloma includes other histiocytic proliferations such as Langerhans cell histiocytosis, papular xanthoma, benign cephalic histiocytosis, RosaiDorfman disease, and hemophagocytic histiocytosis. In addition, proliferations such as dermatofibroma (Figs.…”

A Subcutaneous Juvenile Xanthogranuloma in a 4-Year-Old Girl Who Presented with a Lower Eyelid Mass

“…Although the head, neck, and trunk are the most common sites for JXG, it can appear anywhere on the body, including the groin, scrotum, penis, clitoris, toenail, palm soles, and lip [6, 7, 8]. However, it may also occur in the bone, genitourinary tract, tympanic membrane, spinal column, brain cortex, bone marrow, lung, and liver [9, 10, 11, 12, 13, 14, 15]. Extracutaneous involvement is usually restricted to the eye area.…”