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juvenile xanthogranuloma

Friday 24 October 2003

juvenile xanthogranulomas; juvenile xanthogranuloma - generalized eruptive histiocytosis

Definition: Juvenile xanthogranuloma (JXG), or generalized eruptive histiocytosis, is a rare disorder of the non-Langerhans cell histiocytosis (LCH) type with unknown etiology and pathogenesis. It is still unclear whether JXG is a reactive or a neoplastic process. Clonality has been assessed (17460468). It can be localized or multicentric.

Juvenile xanthogranuloma is frequently found on the head and trunk in infants, but can be diagnosed in older patients. It is composed of a dense lymphohistiocytic proliferation that stains positive for CD68 and vimentin.

XG inflammation is a specific and unusual histopathologic entity that can affect several organs. It has been encountered predominantly in the kidney and gallbladder, and less frequently in the urinary bladder, endometrium, fallopian tube, ovary, vagina, prostate, testis, epididymis, colon, and appendix.

Involvement of the brain, lungs, or bone is very rare.

The age at presentation in these reports ranged from the 2nd to the 6th decade with a male predominance.

The exact etiology is unclear, but delayed-type hypersensitivity may be implicated in the pathogenesis. Complete surgical excision appears to be curative.

No recurrences have been reported.

JXG is a proliferative disorder of dendrocytes, possibly dermal dendrocytes. Juvenile xanthogranulomas is a histiocytic disorder, primarily but not exclusively seen throughout the first two decades of life and principally as a solitary cutaneous lesion.

Juvenile xanthogranuloma (JXG) and LCH have been grouped in the category of dendritic cell-related disorders and separated from macrophage-related proliferations like the Rosai-Dorfman disease.

Despite the supposed similarities between JXG and LCH in terms of their histogenesis, they differ in their morphology and immunophenotype, as well as in their clinical presentation. These differences might explain the poorer outcome of LCH compared with the excellent prognosis of JXG.

JXG is a clonal proliferation of histiocytic/dendritic cells and does not differ in this respect from LCH.

Images

- Juvenile xanthogranuloma and Touton cells

- Juvenile xanthogranuloma (CD68+/S100-/CD1a-) with unusual nuclear factor XIIIA positivity (clone AC-1A1).

Digital cases

- JRC:11021 : Juvenile xanthogranuloma.

Presentation (12717244)

- solitary cutaneous lesion (67%)
- solitary subcutaneous or deep soft tissue mass (16%)
- multiple cutaneous lesions (7%)
- solitary extracutaneous, nonsoft tissue lesion (5%)
- multiple cutaneous and visceral-systemic lesions (5%)
- systemic juvenile xanthogranuloma (17230073)
- macrophagic activation syndrome (MAS)

Localization

- cutis and subcutis (cutaneous juvenile xanthogranuloma)
- mouth, oral cavity (12324792)
- peripheral nerve (11257628)
- heart (11178674)
- eyes (6819503): choroid (12107521), iris (9514494, 17317408), orbit (2123087)
- central nervous system (3082946), brain (9485160), intracranial (17332947)
- liver (12717244)
- spleen
- lung
- oropharynx
- muscle
- bone : osseous juvenile xanthogranuloma / JXG of the bone (17378689)

Variants

- solitary juvenile xanthogranuloma
- multiple juvenile xanthogranuloma
- systemic juvenile xanthogranuloma (8765620)
- nonlipidized juvenile xanthogranuloma (9144693)
- mitotically active juvenile xanthogranuloma (12296763)

Juvenile xanthogranuloma group histiocytic disorders (dermal dendrocyte)

- progressive nodular histiocytosis
- xanthoma disseminatum
- benign cephalic histiocytosis
- spindle cell xanthogranuloma

- generalized eruptive histiocytosis

Microscopical synopsis

- Touton giant cell (consistent in cutaneous lesions; absent or present in reduced numbers in extracutaneous lesions)
- spindle cells intermingled among the mononuclear cells or forming short fascicles

Immunohistochemistry

- vimentin+
- CD68+
- factor XIIIa+
- fascin+
- alpha-1-antitrypsine
- S-100-
- CD1a-

Predisposition

- neurofibromatoses

Associations

- neurilemmomatosis (multiple neurilemmomas) (9810909)
- cafe-au-lait spots (CALS) (11454088, 15078345)
- prolonged severe pancytopenia (16047346)
- juvenile myelomonocytic leukemia (juvenile myeloid leukemia, juvenile chronic myelogenous leukaemia) (6422862, 14550978) or acute myelomonocytic leukemia (6430255) -* with neurofibromatosis type 1 (NF1) (15342987, 14550978)

Clonality

- Monoclonality has been assessed in one case (17460468).

Cytogenetics: no data

Molecular biology: no data

Differential diagnosis

- histiocytic proliferations (histiocytoses)

  • dendritic cell-related proliferations
    • Langerhans cell histiocytosis
  • polyclonal proliferations of macrophages
    • Rosai-Dorfmann disease

See also

- xanthogranulomas
- histiocytic infiltration
- histiocytoses
- histiocytes

References

- 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

- 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

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