Background: Juvenile xanthogranuloma (JXG) belongs to the heterogeneous group of non-Langerhans cell histiocytosis and is caused by an accumulation and proliferation of macrophages. In the majority of cases JXG is a disorder of early childhood presenting during the first 2 years of life. The typical presentation is a solitary reddish or yellowish skin papule or nodule with spontaneous regression and no need for treatment.
Case presentation: Two infants with an atypical presentation of JXG, one with multiple blueberry muffin rash-like skin lesions and the other with severe multi-systemic involvement, are reported. Diagnosis was established by skin biopsy including histological work-up and immunostaining, where markers for macrophages (CD68 and CD163) exhibited significant reactivity.
Conclusion: JXG is the most common of the non-Langerhans cell histiocytosis. The typical presentation is a solitary skin lesion. The purpose of this report is to familiarize paediatricians with an unusual variant of this entity in order to facilitate early diagnosis and raise awareness for possible visceral complications and associated medical conditions.
Keywords: Blueberry muffin baby; Case report; Histopathology; Juvenile xanthogranuloma; Non-Langerhans cell histiocytosis; Systemic.