Juvenile Xanthogranuloma of the Limbus in an Adult

CLINICOPATHOLOGIC REPORTS, CASE REPORTS, AND SMALL CASE SERIES SECTION EDITOR: W. RICHARD GREEN, MD Juvenile Xanthogranuloma of the Limbus in an Adult 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 de- scribe a patient with an unusual cor- neal limbal mass and a skin rash, who was diagnosed histologically as having JXG. The clinical features and management of this rare entity are discussed. Report of a Case. A 39-year-old man came to our department with a pain- Figure 1. Photograph showing typical orange-red maculopapular skin rash. less 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 trabecu- lar meshwork nor the iris was in- volved. Further ocular and orbital examination results were unremarkable. Systemic examination revealed an orange-red maculopapular rash in- volving the trunk, axillae, groin, and face (Figure 1). No associated lymphadenopathy, joint swelling, or oral ulceration were present. Exami- Figure 2. Photograph showing limbal lesion on the right eye. nation of cardiorespiratory and ab- dominal systems disclosed normal results. Complete blood cell count cell lesion with scattered lympho- findings, a diagnosis of adult-onset with differential white cell count, se- cytes and plasma cells. Occasional gi- JXG was made. rum lipid and urea levels, creatinine ant cells were also noted. Histopatho- We initially opted for con- estimation, plasma viscosity, liver logic examination of the skin lesion servative management since the function test results, and chest x- identified a well-circumscribed le- patient was reluctant to undergo ray film were all normal. Sarcoid- sion composed of histiocytic- surgery. However, 18 months fol- osis and tuberculosis were excluded looking cells with abundant, occa- lowing the initial examination, the le- on examination by a pulmonolo- sionally vacuolated cytoplasm, sion had grown to 9 mmϫ5.7 mm gist. Before a diagnosis could be spindle-shaped cells, foci of lympho- (Figure 2) and was causing some made, we performed biopsies of the cytes, and bands of collagen. Multi- discomfort. Surgical excision was car- ocular and skin lesions. nucleated cells were also found and ried out and the lesion was sent for The histopathologic report of these occasionally showed the char- histologic examination. This showed the limbal lesion showed early kera- acteristic features of a Touton giant a granulomatous lesion rich in Tou- tinization over a disorganized spindle cell. Based on the histopathologic ton-type giant cells, with occasional (REPRINTED) ARCH OPHTHALMOL / VOL 120, JULY 2002 WWW.ARCHOPHTHALMOL.COM 976 ©2002 American Medical Association. All rights reserved. Downloaded From: https://jamanetwork.com/ on 09/26/2021 fibrocytes and lack the eosino- philic infiltration. The other main differential diagnoses are dermoli- poma, dermoid, neurofibroma, and other xanthomas. Previously reported cases have been treated with surgical excision with or without lamellar kerato- plasty. Iris lesions, which are diffi- cult to treat surgically because of their vascularity, have been success- fully 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 Figure 3. Histopathologic results showing the limbal lesion with multiple Touton giant cells present, appear to persist, whereas ϫ (hematoxylin-eosin; original magnification 20). in infants, they are usually self- limiting. Peribulbar lesions appear to foci of abundant xanthoid cells and Our case had a 5-year history of be slow-growing and painless. This di- areas of focally dense lymphoid in- cutaneous involvement before the on- agnosis should be made on histo- filtrates. These features are strongly set of the limbal mass. The cause for pathologic grounds and after exclu- suggestive of JXG (Figure 3). At the this delay is unknown but it has been sion of systemic granulomatous and last follow-up, 4 months after exci- suggested that a form of local irrita- histiocytic disorders. sion, there was no sign of recur- tion is the stimulus for the accumu- rence. Further follow-up was not pos- lation of histiocytes that character- Shabbir R. Mohamed, MRCOphth sible because the patient left the ize the lesion histopathologically. Non Matthews, FRCOphth country. However, there was nothing in our Antonio Calcagni, MD patient’s history to suggest that this Birmingham, England Comment. Juvenile xanthogranu- was case. The diagnosis was based on loma is a cutaneous granuloma- the clinical signs and symptoms and tous disease occurring primarily in the histopathologic appearance of bi- Corresponding author and reprints: infants younger than 12 months. It opsy specimens taken from the eye Shabbir R. Mohamed, MRCOphth, Bir- is rare in adults. The cutaneous le- and skin. The typical appearance is mingham Midland Eye Centre, West- sions are orange-red macules or pap- a mixture of foamy and epithelioid ern Road, Birmingham B18 7QH, ules arising predominantly on the histiocytes with a scattering of lym- England (e-mail: shabbir@doctor face, neck, and upper trunk. They phocytes, eosinophils, and occa- .com). resolve spontaneously within 1 to 5 sional plasma cells. The classic Tou- 1. Zimmerman LE. Ocular lesions of juvenile xan- years. Ocular complications occur in ton giant cell, with its wreath of thogranuloma. Am J Ophthalmol. 1965;60:1011- 1035 approximately 10% of patients. Iris nuclei, is often seen, especially in ma- 2. Shields CL, Shields JA, Buchanon HW. Solitary lesions are the most common and ture lesions. orbital involvement with juvenile xantho- sometimes cause spontaneous hy- Juvenile xanthogranuloma runs granuloma. Arch Ophthalmol. 1990;108:1587- 1589 phema and secondary glaucoma. In a benign course and therefore must 3. Sonoda T, Hashimoto H, Enjoji M. Juvenile xan- the series by Zimmerman,1 eyelid le- be differentiated from the more se- thogranuloma. Cancer. 1985;56:2280-2286 sions were the next highest in fre- rious group of histiocytic disor- 4. Harvey P, Lee JA, Goepel JR. Isolated xanthogranuloma of the limbus in an adult. Br J Oph- quency, with epibulbar lesions being ders—namely, the Langerhans cell thalmol. 1994;78:657-659 comparatively rare. Orbital lesions histiocytoses, also known as histio- 5. Collum LMT, Mullaney J. Adult limbal xanthogranuloma. Br J Ophthalmol. 1984;68:360-363. have also been reported infre- cytosis X. Typically, JXG lesions are 6. Yanoff M, Perry HD. Juvenile xanthogranu- 2 quently. Solitary tumors seem to be distinguished by the lack of stain- loma of the corneoscleral limbus. Arch Oph- more common in adult- and adoles- ing for S100 protein. However, in a thalmol. 1995;113:915-917 3 7. Wang JJ, Edward DP, Tu E. Xanthogranuloma cent-onset disease. recent series, 6 of 100 cases were of the corneoscleral limbus in an adult. Can To our knowledge, there have positive for monoclonal markers of J Ophthalmol. 2001;36:275-277 been 4 reported cases of JXG oc- S100 protein.8 Juvenile xanthogranu- 8. Kraus MD, Haley JC, Ruiz R, et al. “Juvenile” 4-7 xanthogranuloma: an immunophenotypic study curring at the limbus in an adult. loma lesions also show positivity for with a reappraisal of histogenesis. Am J Der- None of these cases had coexistent macrophage markers, such as CD68 matopathol. 2001;23:104-111. 9 9. Zelger B, Cerio R, Orchard G, Wilson-Jones E. skin lesions. All were treated by and HAM56 but lack Birbeck gran- Juvenile and adult xanthogranuloma: a histo- surgical excision and no recur- ules on electron microscopy. Fi- logical and immunohistochemical compari- rences were reported; the longest brous histiocytomas can appear his- son. Am J Surg Pathol. 1994;18:126-135. 10. Parmley VC, George DP, Fannin LA. Juvenile follow-up, however, was only 2 tologically similar to JXG but xanthogranuloma of the iris in an adult. Arch years. typically have a storiform pattern of Ophthalmol. 1998;116:377-379 (REPRINTED) ARCH OPHTHALMOL / VOL 120, JULY 2002 WWW.ARCHOPHTHALMOL.COM 977 ©2002 American Medical Association. All rights reserved. Downloaded From: https://jamanetwork.com/ on 09/26/2021 A B C Figure 1. A, A 5-year-old boy developed eyelid swelling and proptosis of the left eye. B, Axial computed tomography reveals a left orbital mass eroding the frontal bone with extension into the temporal fossa. C, Histopathologic examination showed admixture of histiocytes with nuclear folds, eosinophils, and multinucleated giant cells (hematoxylin-eosin, original magnification ϫ250). out palpable mass. Computed tomography (CT) showed an orbital mass with a heterogeneous inter- nal structure in the lateral wall of the left orbit and temporal fossa, with erosion of the frontal and zygo- matic bones (Figure 1B). Incisional biopsy findings revealed a dark brown mass consistent with degen- erated blood. Histopathologic examination showed clotted blood that contained eosinophils, histiocytes, and small multinucleated giant cells (Figure 1C). These findings suggested the diagnosis of either giant cell reparative granuloma or Langer- hans cell histiocytosis. The bone de- fect closed

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