Juvenile xanthogranuloma (JXG) is a cutaneous granulomatous disease
rarely seen in adults and has only been reported to occur at the limbus in
very few cases. We describe a patient with an unusual corneal limbal mass
and a skin rash, who was diagnosed histologically as having JXG. The clinical
features and management of this rare entity are discussed.
A 39-year-old man came to our department with a painless limbal mass
on his right eye that had enlarged during 3 months. His visual acuity was
20/40 OU and on slitlamp examination, a yellowish, well-circumscribed, vascularized,
round nodule was evident at the 6-o'clock position of the right limbus, measuring
6 mm in diameter.
The visual axis was clear, and on gonioscopy, neither the trabecular
meshwork nor the iris was involved. Further ocular and orbital examination
results were unremarkable. Systemic examination revealed an orange-red maculopapular
rash involving the trunk, axillae, groin, and face (Figure 1). No associated lymphadenopathy, joint swelling, or oral
ulceration were present. Examination of cardiorespiratory and abdominal systems
disclosed normal results. Complete blood cell count with differential white
cell count, serum lipid and urea levels, creatinine estimation, plasma viscosity,
liver function test results, and chest x-ray film were all normal. Sarcoidosis
and tuberculosis were excluded on examination by a pulmonologist. Before a
diagnosis could be made, we performed biopsies of the ocular and skin lesions.
Photograph showing typical orange-red
maculopapular skin rash.
The histopathologic report of the limbal lesion showed early keratinization
over a disorganized spindle cell lesion with scattered lymphocytes and plasma
cells. Occasional giant cells were also noted. Histopathologic examination
of the skin lesion identified a well-circumscribed lesion composed of histiocytic-looking
cells with abundant, occasionally vacuolated cytoplasm, spindle-shaped cells,
foci of lymphocytes, and bands of collagen. Multinucleated cells were also
found and these occasionally showed the characteristic features of a Touton
giant cell. Based on the histopathologic findings, a diagnosis of adult-onset
JXG was made.
We initially opted for conservative management since the patient was
reluctant to undergo surgery. However, 18 months following the initial examination,
the lesion had grown to 9 mm × 5.7 mm (Figure 2) and was causing some discomfort. Surgical excision was
carried out and the lesion was sent for histologic examination. This showed
a granulomatous lesion rich in Touton-type giant cells, with occasional foci
of abundant xanthoid cells and areas of focally dense lymphoid infiltrates.
These features are strongly suggestive of JXG (Figure 3). At the last follow-up, 4 months after excision, there
was no sign of recurrence. Further follow-up was not possible because the
patient left the country.
Photograph showing limbal lesion
on the right eye.
Histopathologic results showing
the limbal lesion with multiple Touton giant cells (hematoxylin-eosin; original
Juvenile xanthogranuloma is a cutaneous granulomatous disease occurring
primarily in infants younger than 12 months. It is rare in adults. The cutaneous
lesions are orange-red macules or papules arising predominantly on the face,
neck, and upper trunk. They resolve spontaneously within 1 to 5 years. Ocular
complications occur in approximately 10% of patients. Iris lesions are the
most common and sometimes cause spontaneous hyphema and secondary glaucoma.
In the series by Zimmerman,1 eyelid lesions
were the next highest in frequency, with epibulbar lesions being comparatively
rare. Orbital lesions have also been reported infrequently.2
Solitary tumors seem to be more common in adult- and adolescent-onset disease.3
To our knowledge, there have been 4 reported cases of JXG occurring
at the limbus in an adult.4- 7
None of these cases had coexistent skin lesions. All were treated by surgical
excision and no recurrences were reported; the longest follow-up, however,
was only 2 years.
Our case had a 5-year history of cutaneous involvement before the onset
of the limbal mass. The cause for this delay is unknown but it has been suggested
that a form of local irritation is the stimulus for the accumulation of histiocytes
that characterize the lesion histopathologically. However, there was nothing
in our patient's history to suggest that this was case. The diagnosis was
based on the clinical signs and symptoms and the histopathologic appearance
of biopsy specimens taken from the eye and skin. The typical appearance is
a mixture of foamy and epithelioid histiocytes with a scattering of lymphocytes,
eosinophils, and occasional plasma cells. The classic Touton giant cell, with
its wreath of nuclei, is often seen, especially in mature lesions.
Juvenile xanthogranuloma runs a benign course and therefore must be
differentiated from the more serious group of histiocytic disorders—namely,
the Langerhans cell histiocytoses, also known as histiocytosis X. Typically,
JXG lesions are distinguished by the lack of staining for S100 protein. However,
in a recent series, 6 of 100 cases were positive for monoclonal markers of
S100 protein.8 Juvenile xanthogranuloma
lesions also show positivity for macrophage markers, such as CD68 and HAM569 but lack Birbeck granules on electron microscopy.
Fibrous histiocytomas can appear histologically similar to JXG but typically
have a storiform pattern of fibrocytes and lack the eosinophilic infiltration.
The other main differential diagnoses are dermolipoma, dermoid, neurofibroma,
and other xanthomas.
Previously reported cases have been treated with surgical excision with
or without lamellar keratoplasty. Iris lesions, which are difficult to treat
surgically because of their vascularity, have been successfully treated with
topical and systemic steroids, radiotherapy, and in one case, low-dose methotrexate.10
In summary, to our knowledge, this is the first case report of skin
involvement in an adult patient with limbal JXG. The skin lesions, when present,
appear to persist, whereas in infants, they are usually self-limiting. Peribulbar
lesions appear to be slow-growing and painless. This diagnosis should be made
on histopathologic grounds and after exclusion of systemic granulomatous and
Corresponding author and reprints: Shabbir R. Mohamed, MRCOphth,
Birmingham Midland Eye Centre, Western Road, Birmingham B18 7QH, England (e-mail: firstname.lastname@example.org).
Mohamed SR, Matthews N, Calcagni A. Juvenile Xanthogranuloma of the Limbus in an Adult. Arch Ophthalmol. 2002;120(7):976-977. doi: