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systemic juvenile xanthogranuloma

Tuesday 24 August 2004

Definition: Juvenile xanthogranulomatosis (JXG) is a rare benign condition, which usually presents with characteristic skin lesions and can be diagnosed clinically. Systemic JXG may involve a wide range of extracutaneous sites, and may simulate malignancy.

Juvenile xanthogranuloma (JXG) is a histiocytic disorder most commonly present in the first two decades of life, especially in the neonatal period and first year of life.

Juvenile xanthogranuloma (JXG) is principally a solitary cutaneous lesion with occasional multifocal or multisystemic involvement.

Juvenile xanthogranuloma (JXG) has a male predominance. Prognosis, generally speaking, is good except when there is deep or multisystemic involvement.

Early JXG typically presents within compact sheet-like histiocytic infiltrate, with or without scattered eosinophils, sometimes mimicking Langerhans cell histiocytosis (LCH). Touton-type giant cells are generally absent but can be detected occasionally.

Classic JXG, on the other hand, typically has foamy histiocytes with abundant cytoplasm and fine cytoplasmic vacuolation; spectrum of fully developed Touton giant cells is present, but giant cells of Langerhans type or foreign body type are also possible.

The late or transitional subtype typically shows predominance of single sheets of cells reminiscent of benign fibrous histiocytoma with the addition of foamy histiocytes and giant cells. Combinations of these subtypes are possible.

A distinctive immunohistochemistry staining pattern includes: positive CD68, alpha-1 antitrypsin, factor XIIIa, and lysozyme; S100 and CD1a are typically negative, in contrast to its cousin Langerhans cell histiocytosis.

In electron microscopy studies, JXG shows no Birbeck granules as in LCH.

Forms of systemic disease are rare and they have significant clinical implications.

Visceral multisystemic presentation with liver/spleen involvement and coagulopathy is perhaps the worst form of systemic JXG with a more aggressive behavior and worse prognosis than other similar cases in the same category; intensified treatment, close monitoring, and followup is warranted.

Localization

- abdominal wall musculature (17230073)
- lungs (17230073, 17203293)

Variants

- neonatal systemic juvenile xanthogranuloma (21695102)

Associations

- infantile osteopetrosis (21054159)
- hematological dysfunction (20589639)
- prolonged severe pancytopenia (16047346)

References

- Neonatal systemic juvenile xanthogranuloma with an ominous presentation and successful treatment. Fan R, Sun J. Clin Med Insights Oncol. 2011;5:157-61. PMID: 21695102 [Free]

- Systemic juvenile xanthogranuloma with fatal outcome. Azorín D, Torrelo A, Lassaletta A, de Prada I, Colmenero I, Contra T, González-Mediero I. Pediatr Dermatol. 2009 Nov-Dec;26(6):709-12. PMID: 20199446

- Matcham NJ, Andronikou S, Sibson K, Ramani P, Grier D. Systemic juvenile xanthogranulomatosis imitating a malignant abdominal wall tumor with lung metastases. J Pediatr Hematol Oncol. 2007 Jan;29(1):72-3. PMID: 17230073

- Hu WK, Gilliam AC, Wiersma SR, Dahms BB. Fatal congenital systemic juvenile xanthogranuloma with liver failure. Pediatr Dev Pathol. 2004 Jan-Feb;7(1):71-6. PMID: 15255037

- Janssen D, Harms D. Juvenile xanthogranuloma in childhood and adolescence: a clinicopathologic study of 129 patients from the kiel pediatric tumor registry. Am J Surg Pathol. 2005 Jan;29(1):21-8. PMID: 15613853

- Dehner LP. Juvenile xanthogranulomas in the first two decades of life: a clinicopathologic study of 174 cases with cutaneous and extracutaneous manifestations. Am J Surg Pathol. 2003 May;27(5):579-93. PMID: 12717244

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