juvenile xanthogranulomas
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Juvenile xanthogranuloma (JXG) 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).
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.
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 marrow JXG (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
- neurofibromatosis type 1 (NF1) (15078345, 15342987)
- neurofibromatosis type 2 (NF2) (9810909)
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
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