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 Table of Contents  
CASE REPORT
Year : 2020  |  Volume : 32  |  Issue : 3  |  Page : 287-290

Ocular juvenile xanthogranuloma


Department of Ophthalmology, Cornea Clinic, Al Salama Eye Hospital, Malappuram, Kerala, India

Date of Submission03-Dec-2019
Date of Decision21-Jan-2020
Date of Acceptance23-Jan-2020
Date of Web Publication23-Dec-2020

Correspondence Address:
Dr. Shaji Hussain
Cornea Department, Cornea Clinic, Al Salama Eye Hospital, Perinthalmanna, Malappuram, Kerala
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/kjo.kjo_84_19

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  Abstract 


We present a case of a 3-year-old male child with a history of swelling in the left eye of 1-month duration who was seen elsewhere for this complaint and was started on topical steroids. Slit-lamp examination revealed a conjunctival swelling of size 2 mm × 2 mm, well-defined margins, slightly raised from the surface, had a pink hue without any surrounding conjunctival congestion. A clinical diagnosis of foreign body granuloma was made, and the child underwent excision biopsy. Histopathological examination revealed Juvenile Xanthogranuloma (JXG). JXG was first described by Adamson in 1905 in a child who had multiple skin nodules. He defined those lesions by the name congenital xanthoma multiplex. A case of JXG with iris involvement was presented for the first time in 1948 at the Ophthalmic Pathology Club gathering in Washington DC, and it was published 1 year later by Blank et al.

Keywords: Benign conjunctival lesion, ocular juvenile xanthogranuloma, Touton giant cells


How to cite this article:
Hussain S, Paul AM. Ocular juvenile xanthogranuloma. Kerala J Ophthalmol 2020;32:287-90

How to cite this URL:
Hussain S, Paul AM. Ocular juvenile xanthogranuloma. Kerala J Ophthalmol [serial online] 2020 [cited 2021 Jan 16];32:287-90. Available from: http://www.kjophthal.com/text.asp?2020/32/3/287/304561




  Introduction Top


Juvenile xanthogranuloma (JXG) is considered to be a rare benign condition in which there is a proliferation of histiocytes.[1] It is seen in infants and small children. JXG is the commonest variety of non-Langerhan's cell histiocytosis, which is marked by histopathological evidence of Touton giant cells.[2] The skin is the most frequent site of JXG, where it is presented as a solitary nodular lesion. After skin, the eye is the next most common site of JXG, in which the iris being the most frequently involved tissue (68%). The disease can also involve orbit, eyelid, conjunctiva, choroid, retina, and optic disc.[3],[4]


  Case Report Top


A 3-year-old systemically healthy male child presented to our outpatient department with a history of swelling in the left eye of a 1-month duration. The swelling was not associated with any pain, redness, photophobia, or diminution of vision. Slit-lamp biomicroscopic examination revealed a conjunctival swelling of size 2 mm × 2 mm, well-defined margins, slightly raised from the surface, had a pink hue without any surrounding conjunctival congestion. A clinical suspicion of foreign body granuloma was made, and the child was posted for excision biopsy. During an excisional biopsy, the lesion was limited to conjunctival tissue and had no scleral adhesions. The lesion was removed completely and intoto. Histopathological examination revealed ocular JXG.


  Discussion Top


JXG is most commonly seen in children <2 years, but older children can also get affected. In 2 cohorts studies of 174 and 30 JXG patients each, the mean age was found to be 3.3 years (median 1 year) and 4.3 years (median 1.3 years), respectively. Among children with cutaneous JXG, 0.3%–10% were found to have ocular disease where children younger than 2 years were at a higher risk.[5] Male:female ratio ranges between 1.1:1 and 1.4:1. There is a 0.75% rate of systemic involvement in those with cutaneous JXG.[6]

The skin is the most frequent site of JXG. Cutaneous lesions are seen in 75% of patients as the only clinical manifestation and may involve eyelids, head, neck, trunk, and upper and lower extremities.[5] Iris lesions are mostly unilateral, localized, yellow-colored, elevated, and vascularized. They may either appear as a thin layer diffused on the iris surface or as masses over the iris thus resulting in heterochromia.[3] These can lead to spontaneous hyphema and thus predispose to secondary glaucoma. Only 0.3%–10% of cutaneous JXG patients have ocular lesions.

After iris, the conjunctiva (19%) is the next common site. In the bulbar conjunctiva, these present as nodular lesions that are localized and yellow in color. The least common sites for JXG are the lungs, pericardium, salivary glands, viscera, central nervous system, kidneys, testes, ovaries, and bones.

Neurofibromatosis-1, Niemann–Pick disease, and urticaria pigmentosa are associated with JXG.[7] Patients having both JXG and neurofibromatosis type-1 (NF-1) are at 20–32 fold risk of developing juvenile myelomonocytic leukemia (JMML) than those having NF1 without JXG. Hence, all patients with NF1 and JXG must be evaluated for JMML development.[8]

Our patient underwent a complete systemic and ocular examination. There were not any evidence of systemic diseases. Excision biopsy was done under mild sedation to confirm the diagnosis.

The biopsy report revealed the following histopathological findings.

The pathogenesis in JXG is of reactive origin. Here, a histioxanthomatous reaction is thought to be evoked by a local tissue damage. Histopathological examination shows Touton giant cells, lymphocytes, epithelioid histiocytes, and eosinophils [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6]. A Touton type of giant cell may be described as a multinucleated cell with a wreath of nuclei that surrounds a homogeneous cytoplasm, and in the periphery of the nuclei, there is a rim of foamy cytoplasm. Remember that Touton giant cells are not pathognomonic of JXG. Touton giant cells are rarely seen in early JXG, where small to intermediate-sized mononuclear histiocytes are found to display a compact sheet-like infiltrate. The cytoplasm will be eosinophilic and sparse to moderate in amount and may not contain lipid vacuoles or sometimes may have only fine vacuoles. The cells stain positive for CD68 and negative for CD1a, CD 20716, and S100 and have variable reactivity with factor XIIIa.[9]
Figure 1: (a) Conjunctival juvenile xanthogranuloma, (b) tissue excised in toto, (c) tissue in absolute alcohol and marked for pathology evaluation

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Figure 2: High power, multinucleated giant cells

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Figure 3: Low power, multinucleated giant cells

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Figure 4: Fibrotic stroma with xanthomatous changes

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Figure 5: Scanner view, lesion showing spindle cell stroma with mild mixed inflammatory cells

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Figure 6: High power Touton giant cells

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JXG arising in the conjunctiva has close differential diagnoses like epibulbar dermoid (benign congenital lesions with choristomatous tissue occurring inferotemporal quadrant of the corneal limbus), dermolipoma (located near temporal fornix and composed of adipose tissue), and less frequently, phlyctenular keratoconjunctivitis, neurofibroma, fibrous histiocytoma (recurrent crop like lesions may spontaneously resolve in months), pterygium, pyogenic granuloma, and foreign body granuloma, as well as other primary and secondary inflammatory lesions such as Langerhans cell histiocytosis.

Excision biopsy is both diagnostic and therapeutic for lesions over the eyelid. Corticosteroids (topical and intralesional) may be tried over eyelid lesions alternatively. Limbal lesions have shown success with topical corticosteroid therapy. Cutaneous lesions may be observed for 1–5 years as they either regress or stabilize during this period. For conjunctival lesions, if topical treatment response is poor or in the contexts of poor compliance, periocular corticosteroid injection may be considered. In cases where there is no response to corticosteroids and in lesions which show atypical presentations, fine-needle aspiration cytology may be performed to exclude the possibility of a malignancy.

Low-dose ocular radiotherapy and systemic steroids may be considered in recalcitrant conditions. Extensive systemic JXG requires multimodal chemotherapy.[10]

JXG has a favorable prognosis in general. Cutaneous disease either stabilizes or regresses with time. In the eye, lid and conjunctival lesions have a benign course, whereas iris JXG can be vision-threatening due to its complications. Data analysis of 129 patients who underwent excisional biopsy showed no recurrence among 83% of the patients, 10% had recurrent lesions, and 7% developed an additional lesion near the original tumor site. Death was reported very rarely in systemic JXG. Unlike Langerhan's cell histiocytosis, systemic involvement is rare in JXG, thus explaining the favorable prognosis.[10]

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient's bystanders have given their consent for their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published, and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
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; 27:579–93.  Back to cited text no. 1
    
2.
American Academy of Ophthalmology. Juvenile xanthogranuloma. In: Basic and Clinical Science Course: Pediatric Ophthalmology and Strabismus. Sec. 6. San Francisco, CA: American Academy of Ophthalmology; 2017.  Back to cited text no. 2
    
3.
Samara WA, Khoo CT, Say EA, Saktanasate J, Eagle RC Jr., Shields JA, et al. Juvenile xanthogranuloma involving the eye and ocular adnexa: Tumor control, visual outcomes, and globe salvage in 30 patients. Ophthalmology 2015;122:2130-8.  Back to cited text no. 3
    
4.
Johnson TE, Alabiad C, Wei L, Davis JA. Extensive juvenile xanthogranuloma involving the orbit, sinuses, brain, and subtemporal fossa in a newborn. Ophthalmic Plast Reconstr Surg 2010;26:133-4.  Back to cited text no. 4
    
5.
Cypel TK, Zuker RM. Juvenile xanthogranuloma: Case report and review of the literature. Can J Plast Surg 2008;16:175-7.  Back to cited text no. 5
    
6.
Samuelov L, Kinori M, Chamlin SL, Wagner A, Kenner-Bell BM, Paller AS, et al. Risk of intraocular and other extracutaneous involvement in patients with cutaneous juvenile xanthogranuloma. Pediatr Dermatol 2018;35:329-35.  Back to cited text no. 6
    
7.
Cambiaghi S, Restano L, Caputo R. Juvenile xanthogranuloma associated with neurofibromatosis 1: 14 patients without evidence of hematologic malignancies. Pediatr Dermatol 2004;21:97-101.  Back to cited text no. 7
    
8.
Zvulunov A, Barak Y, Metzker A. Juvenile xanthogranuloma, neurofibromatosis, and juvenile chronic myelogenous leukemia. World statistical analysis. Arch Dermatol 1995;131:904-8.  Back to cited text no. 8
    
9.
Sonoda T, Hashimoto H, Enjoji M. Juvenile xanthogranuloma. Clinicopathologic analysis and immunohistochemical study of 57 patients. Cancer 1985;56:2280-6.  Back to cited text no. 9
    
10.
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;29:21-8.  Back to cited text no. 10
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6]



 

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