Successful treatment of systemic juvenile xanthogranulomatosis with cytarabine and 2‐chlorodeoxyadenosine: case report and review of the literature

Abstract

The non-Langerhans cell histiocytosis (LCH) juvenile xanthogranulomatosis (JXG) is usually a benign disease limited to the skin. Only a few cases of systemic disease with at least two affected organs and lethal outcomes have been reported to date. Treatment is controversial and no standard protocol is available. We report the rare case of a 22-month-old boy presenting multiple erythematous brownish papules of the head, trunk and legs, which had developed starting from his 6th month of life. Additional symptoms were delayed psychomotor development, hydrocephalus and hepatosplenomegaly. Further diagnostics revealed a systemic JXG with involvement of the skin, central nervous system, liver and spleen. The patient did not respond to initial therapy with prednisone and vinblastine according to protocol III for LCH. However, further therapy with cytarabine and 2-chlorodeoxyadenosine followed by a consolidation phase with 2-chlorodeoxyadenosine alone was successful and the patient is in his 4th year of remission. We provide a comprehensive review of the reported cases of systemic JXG to date.

Long‐term outcomes of children with extracutaneous juvenile xanthogranulomas in Japan

“…Age at the time of diagnosis is also low in patients with extracutaneous JXG; two‐thirds of patients are diagnosed at < 1 year of age 2,3 . However, when the analysis is limited to patients with intracranial lesions, age at the time of diagnosis is high; more than 70% of patients are > 1 years old at the time of diagnosis 2,7,9 . This was confirmed in the present cohort: of eight patients with intracranial lesions, six (75%) were diagnosed at > 1 years of age, and the median age at diagnosis was 5.5 years, which was significantly higher than that in patients without intracranial lesions.…”

Severe systemic juvenile xanthogranuloma is an indication for systemic therapy

“…If there is no response as seen in a subgroup of the published cases, methotrexate, cyclophosphamide, etoposide, fluorouracil and mercaptopurine can be used. In the actual case and in two others (both published by Rajendra et al …”

“…In this issue of the BJD , Maintz et al . describe a 22‐month‐old boy presenting with multiple cutaneous lesions of JXG present since his sixth month of life.…”

“…In the discussion the authors mentioned the 45 other cases with systemic JXG, which are listed in a table including the demographic data, involvement of internal organs, therapy and outcome. They confirmed an early manifestation with a median age of 5·5 months and the predominance of males (M : F = 1·4 : 1).…”

“…However, there are no guidelines to treat patients with severe JXG due to the small number (46 reviewed by Maintz et al …”