Juvenile xanthogranuloma (JXG) is the most common non-Langerhans cell histiocytosis in children.

The aim of a new study published in Pediatric Blood & Cancer was to determine the mortality and morbidity associated with JXG with extracutaneous lesions.

In this retrospective study, data of patients aged < 18 years who were diagnosed with JXG between 2001-10, were collected through a nationwide survey in Japan.

The findings showed that 21 patients – 11 males and nine females, had extracutaneous lesions; the median observation time was 10 years (range: 0-17 years). 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 11 with chemotherapy, whereas five did not receive treatment. All patients except one survived; 17 were disease-free and two had persistent disease. However, one neonatal-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. In addition, four patients had visual impairment—optic nerve compression and intraocular invasion in two each, three had epilepsy, one had mental retardation and another had a skin scar.

Meanwhile, 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.

From the results, it was concluded that patients with extracutaneous JXG had good outcomes, although those with intracranial lesions had serious permanent sequelae. Therefore, effective and safe treatment regimens for patients with intracranial JXG need to be developed.

Source: Pediatric Blood & Cancer. 2020 May 8;e28381. doi: 10.1002/pbc.28381.