Long-term outcomes of children with extracutaneous juvenile xanthogranulomas in Japan.

BACKGROUND: Juvenile xanthogranuloma (JXG) is the most common non-Langerhans cell histiocytosis in children. The mortality and morbidity of JXG with extracutaneous lesions remain unclear. METHODS: Data of patients aged < 18 years who were diagnosed with JXG between 2001 and 2010 were retrospectively collected through a nationwide survey. RESULTS: Twenty patients (11 male and nine female) had extracutaneous lesions. The median observation time was 10 years (range, 0-17). Six patients presented with symptoms at birth. The median age at diagnosis was 8.5 months (range, 0 month-13 years). Fifteen patients underwent treatment for JXG, including chemotherapy (n = 11), and five did not receive treatment. All patients except one survived; 17 were disease-free and two survived with disease. One newborn-onset patient with liver, spleen, and bone marrow involvement died of the disease. Permanent sequelae included central diabetes insipidus, growth hormone deficiency, and panhypopituitarism detected at diagnosis in three, one, and two patients, respectively. Four patients had visual impairment (optic nerve compression and intraocular invasion in two each), three had epilepsy, one had mental retardation, and one had a skin scar. Eight patients who had intracranial lesions were older at diagnosis, and had a higher frequency of disease-related comorbidities and permanent sequelae than those without intracranial involvement. CONCLUSIONS: Patients with extracutaneous JXG had good outcomes, although those with intracranial lesions had serious permanent sequelae. Effective and safe treatment regimens for patients with intracranial JXG need to be developed.

Xanthoma of bone.

The authors report on 21 cases of "primary" xanthoma of bone. Twenty of the patients were older than 20 years old. The male-female ratio was 2:1. The presenting symptom was pain in 13 patients and neurologic symptoms in 2; in 6 patients, the lesion was an incidental finding. All but one of the lesions in this series were solitary, and the flat bones (pelvis, rib, skull) were the most frequently involved sites. Radiographically, a well-defined, sometimes expansile lytic lesion, with either a small area of surrounding reactive bone or a distinct sclerotic margin, was seen. Microscopically, foam cells, giant cells, cholesterol clefts, and fibrosis were present in varying degrees. In none of these cases was there an identifiable underlying lesion. The differential diagnosis includes Erdheim-Chester disease (a multisystemic granulomatosis) and bone involvement in sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman disease). More important is the differential diagnosis with metastatic clear cell carcinoma. Xanthoma of bone is a benign lesion, and complete or even partial removal is effective. Xanthomas may represent a "burnt-out" benign condition such as fibrous dysplasia or histiocytosis X.

Xanthogranuloma, Rathke's cyst, and childhood craniopharyngioma: results of prospective multinational studies of children and adolescents with rare sellar malformations.

CONTEXT: Craniopharyngioma (CP), Rathke's cyst (RC), and xanthogranuloma (XG) are closely related rare sellar masses. Treatment strategies in children lack consensus. OBJECTIVE: Our objective was to study clinical manifestations and treatment-related outcome in RC, XG, and CP patients. DESIGN: We conducted a multicenter surveillance trial. PATIENTS: Inclusion criteria were 1) histological diagnosis of CP, XG, or RC and 2) diagnosis at age of 18 yr or less. A total of 117 CP, 14 XG (2001-2006), and 14 RC (1996-2006) were recruited. MAIN OUTCOME: Overall survival (OS), event-free survival (EFS), and quality of life (QoL) were evaluated. RESULTS: The 5-yr OS rates were 1.00 ± 0.00 in RC and XG and 0.97 ± 0.02 in CP. The 5-yr EFS rates were 0.85 ± 0.10 in RC, 1.00 ± 0.00 in XG, and 0.50 ± 0.05 in CP. Surgical resection of XG results in complete remission without recurrence. Recurrences occur in RC (14%) and CR (59%) but can be efficiently treated by irradiation, reoperation, and/or intracystic treatment. Severe hypothalamic sequelae such as obesity and others affecting QoL are predominant in CP due to presurgical involvement (59%) and postsurgical lesions (44%) of posterior hypothalamic structures. Centers with lower neurosurgery patient load use more radical surgical approaches to treat CP, resulting in higher rates of obesity and reduced QoL. Despite 46% anterior hypothalamic involvement, severe obesity is not encountered in XG. CONCLUSIONS: Treatment of choice in XG and RC is radical surgery. In CP involving hypothalamic structures, less radical surgical approaches preserving hypothalamic integrity are recommended. Due to frequent relapses, regular imaging during follow-up is recommended for CP and RC. Treatment of patients with sellar masses should be confined to experienced multidisciplinary teams.

Fetal and neonatal histiocytoses.

PURPOSE: The histiocytoses are a group of disorders of the monophagocytic system having a variety of clinical and pathological findings. They occur less often during the perinatal period than later in life. Their biologic behavior, response to therapy, and histologic types are not the same. METHODS: The study consisted of 221 fetuses and neonates collected from the literature and from personal files. RESULTS: Langerhans' cell histiocytosis (LCH), the hemophagocytic lymphohistiocytoses (HLH), and juvenile xanthogranuloma (JXG), in order of rank, were the main histiocytoses occurring in the perinatal period. HLH accounted for the highest mortality (74%) followed by disseminated LCH (52%) and JXG (11%). All neonates with LCH and JXG limited to the skin and/or subcutaneous tissue survived with or without treatment. CONCLUSIONS: This study suggests that there is an increased incidence of spontaneous regression of certain histiocytic lesions in neonates as compared to older individuals. Cutaneous forms JXG and LCH had the highest incidence of regression followed by infection associated HLH.