Juvenile Xanthogranuloma Workup

Updated: Dec 19, 2022
  • Author: Bhupendra C K Patel, MD, FRCS; Chief Editor: Michael Taravella, MD  more...
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Workup

Approach Considerations

Management of iris JXG should be prompt to avoid the development of iritis with photophobia, advanced hyphema, secondary glaucoma, neovascularization-related complications, loss of vision, and, even, loss of the eye. 

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Laboratory Studies

Juvenile xanthogranuloma (JXG) is mainly a clinical diagnosis, which can be confirmed histologically. Histology of excised lesions and cytology of aqueous fluid may be used.

Routine screening for metabolic or hematologic abnormalities is not recommended.

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Imaging Studies

High-frequency ultrasound of the anterior segment can aid in identifying lesions, which typically appear as solid homogeneous masses, especially when hyphema is present. Ocular ultrasound may also be used to help confirm the location of the intraocular or orbital lesions.

CT scanning and MRI are rarely indicated for isolated juvenile xanthogranulomas. However, for cases that involve multiple extracutaneous organs, where the differential diagnoses includes LCH, infectious disease, multiple organ metastases from a malignant tumor, and tuberous sclerosis complex, knowledge of the common locations involved and imaging appearances on magnetic resonance imaging will be necessary.  [21]

Anterior-segment optical coherence tomography (OCT) can help confirm a diagnosis of juvenile xanthogranuloma (JXG) by demonstrating the thin flat iris lesion.

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Other Tests

Biomicroscopy is the main technique used in ocular diagnosis. 

Dermoscopy is a skill taught in dermatology and is very useful as an aid in the diagnosis of juvenile xanthogranuloma. Palmer and Bowling demonstrated that dermoscopy shows a "setting sun" appearance with a red-yellow center (corresponding with the dermal xanthogranulomatous infiltrate) and a discrete erythematous halo. Linear telangiectasia may also be observed.  [22]

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Procedures

Anterior chamber paracentesis to obtain cytologic material has been described and can be useful in cases where the diagnosis is uncertain.

Gonioscopy is helpful to identify peripheral lesions and to look for causes of secondary glaucoma.

Fine-needle aspiration biopsy can also be helpful, especially when typical cutaneous lesions are absent.

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Histologic Findings

Lesions contain dense polyhedral histiocytes with large amounts of cytoplasm that often contain vacuoles. Touton giant cells are present in 85% of cases. [7] They have a wreath of nuclei surrounding a homogenous eosinophilic cytoplasmic center and have been the description "garland-like". At later stages of the disease, there is an increase in fibroblasts with fibrosis replacing the infiltration of histiocytes, lymphocytes and eosinophils.  See the images below.

Touton giant cells have a peripheral ring of nucle Touton giant cells have a peripheral ring of nuclei as well as a clear lipid halo as shown. Touton giant cells are seen with lipid-laden histiocytes, lymphocytes and eosinophils in juvenile xanthogranulomas. Courtesy of Nick Mamalis, MD, John Moran Eye Center, University of Utah, Moran Clinical Ophthalmology for Education (CORE) (https://morancore.utah.edu/).
Touton giant cell in juvenile xanthogranuloma. Tou Touton giant cell in juvenile xanthogranuloma. Touton giant cell with a wreath of nuclei surrounding a homogenous eosinophilic cytoplasmic center in juvenile xanthogranuloma. Touton cells are named after Karl Touton, who first described them in 1885. Touton giant cells are seen in xanthoma, juvenile and adult xanthogranulomas, dermatofibroma, and fat necrosis.

Ocular lesions show a lower number of Touton cells compared to cutaneous juvenile xanthogranuloma.

Immunohistochemistry shows the lesions to be positive for factor XIIIa, CD68, CD163, fascin, and CD14 but negative for S100 and CD1. This can be used to differentiate these lesions from Langerhans cell histiocytoses.

A prominent vascular network is often present. Evidence of tissue inflammation is seen in the swelling and degeneration of epithelial cells and redundant capillary basement membranes with perivascular edema.

Factor XIIIa is a fibrohistiocytic marker that is positive in juvenile xanthogranuloma, benign fibrous histiocytoma, malignant fibrous histiocytoma, calcifying fibrous tumors, verruciform xanthomas, fibroxanthoma, hemangiopericytoma, Erdheim-Chester disease, and other rarer diseases such as myofibroblastoma, pleomorphic hyalinizing angiectatic tumor, and storiform collagenoma.

CD68 is also called KP1 or macrosialin. It is a marker of histiocytes and is positive in a large number of histiocytic diseases besides juvenile xanthogranuloma.

CD163 stains monocytes and macrophages and is positive in juvenile xanthogranuloma and histiocytic sarcoma.

Fascin is a protein that stains in carcinoma of the colon, lung, and ovary and is positive in Hodgkin lymphoma, Langerhans cell histiocytosis, and juvenile xanthogranuloma.

CD14 is used to identify monocytes and macrophages. It is positive in histiocytic sarcoma, myelomonocytic leukemia, and juvenile xanthogranuloma.

S100 an acidic protein used as a marker for melanoma and neural lesions.

CD1a, CD1b, and CD1d are found in humans. CD1a is used to diagnose Langerhans cell histiocytosis.

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