A rare case of neonatal systemic xanthogranulomatosis with severe hepatic disease and metachronous skin involvement

J Pediatr Hematol Oncol. 2012 Apr;34(3):226-8. doi: 10.1097/MPH.0b013e3182203086.

Abstract

Juvenile xanthogranuloma (JXG) is a rare benign disorder of unknown pathogenesis, usually a self-limited condition. Extracutaneous systematic involvement is infrequent. We report one of the few documented cases of congenital systemic JXG, presenting with fever, jaundice, hepatosplenomegaly, ascites, pancytopenia, and delayed skin involvement. Liver biopsy established the diagnosis and JXG was not demonstrated in the bone marrow. Rapid deterioration of liver disease and pancytopenia, prompted us to administer immunosuppressive treatment (Langerhans cell histiocytosis-II Protocol). The patient's clinical condition improved and visceral and skin lesions showed gradual involution. The patient is still free of disease 4 years after the initial presentation.

Publication types

  • Case Reports

MeSH terms

  • Hepatomegaly
  • Humans
  • Immunosuppressive Agents / therapeutic use
  • Infant, Newborn
  • Liver Diseases / drug therapy
  • Liver Diseases / etiology
  • Liver Diseases / pathology*
  • Male
  • Pancytopenia
  • Skin Diseases / drug therapy
  • Skin Diseases / etiology
  • Skin Diseases / pathology*
  • Xanthogranuloma, Juvenile / complications
  • Xanthogranuloma, Juvenile / congenital*
  • Xanthogranuloma, Juvenile / drug therapy
  • Xanthogranuloma, Juvenile / pathology*

Substances

  • Immunosuppressive Agents