|Ahead of print publication
Unusual presentation of a vascularized iris lesion in an infant
Sasikala Elizabeth Anilkumar1, Parag K Shah2, VR Saravanan3, Radhakrishnan Shanthi4, Narendran Kalpana1
1 Department of Paediatric Ophthalmology and Strabismus, Aravind Eye Hospital and Postgraduate Institute of Ophthalmology, Coimbatore, Tamil Nadu, India
2 Department of Paediatric Retina and Ocular Oncology, Aravind Eye Hospital and Postgraduate Institute of Ophthalmology, Coimbatore, Tamil Nadu, India
3 Department of Retina, Aravind Eye Hospital and Postgraduate Institute of Ophthalmology, Coimbatore, Tamil Nadu, India
4 Departments of Pathology, Aravind Eye Hospital and Postgraduate Institute of Ophthalmology, Madurai, Tamil Nadu, India
|Date of Submission||18-Jun-2021|
|Date of Acceptance||05-Sep-2021|
|Date of Web Publication||10-Nov-2021|
Sasikala Elizabeth Anilkumar,
Department of Paediatric Ophthalmology and Strabismus, Aravind Eye Hospital and Postgraduate Institute of Ophthalmology, Coimbatore - 641 014, Tamil Nadu
Source of Support: None, Conflict of Interest: None
We report an unusual presentation of a 10-month-old girl with left eye (LE) redness and watering. Evaluation showed an iris vascular lesion and lens opacity in her LE. Child underwent USG B-scan and ultrasound biomicroscopy, by which an extensive mass lesion arising from iris and ciliary body with absent calcification was revealed. Following extensive evaluation, child underwent cataract extraction and trans-scleral total excision of the mass lesion. Histopathology proved it as juvenile xanthogranuloma (JXG) with vascular proliferation. JXG is a rare benign self-limiting dermatologic disorder affecting mainly infants and small children. Ocular lesions are the most common extracutaneous manifestation. Cataract in JXG is less frequently reported. This case is reported due to its rarity and as it presented solely as an intraocular lesion with combined diffuse infiltration into ciliary body and cataract which is unusual. Early recognition and systematic approach helped in sight saving and organ salvaging.
Keywords: Cataract, diffuse infiltration of iris and ciliary body, histiocytosis, juvenile xanthogranuloma, vascular iris lesion in children
|How to cite this URL:|
Anilkumar SE, Shah PK, Saravanan V R, Shanthi R, Kalpana N. Unusual presentation of a vascularized iris lesion in an infant. Taiwan J Ophthalmol [Epub ahead of print] [cited 2022 Oct 7]. Available from: https://www.e-tjo.org/preprintarticle.asp?id=330267
| Introduction|| |
Juvenile xanthogranuloma (JXG) a non-Langerhans'cell histiocytosis (LCH) typically presents as a benign cutaneous disorder in infants and young children. It was first reported as “congenital xanthoma multiplex” in the dermatology literature by Adamson in 1905. Blank et al. published the first pediatric case with intraocular involvement in 1949. The pathogenesis of JXG is not yet clear. Genetically, a missense mutation of the FGFR3 gene with unknown significance has been reported. Extracutaneous JXG presenting sites includes eye, ocular adnexa, central nervous system, lung, liver, and spleen. Eye involvement is seen in 0.3%–10% of children with cutaneous JXG. Cutaneous xanthogranuloma is self-limiting whereas ocular JXG can lead to significant adverse sequela. Ocular lesions are the most common extracutaneous manifestation of JXG. Ocular JXG predominantly affects iris and can result in sight-threatening complications such as hyphema, secondary glaucoma, and amblyopia. Spontaneous hyphema can result in sudden raise in intraocular pressure (IOP).
| Case Report|| |
A 10-month-old girl child with redness and watering in the left eye (LE) for 2-week duration was referred to our clinic for further evaluation. She was born normally with unremarkable perinatal period and had attained age-appropriate milestones. She had no systemic illness and insignificant family history of any ocular problems. Parents denied a history of trauma but reported a history of being treated for febrile illness a month ago that was diagnosed as urinary tract infection and was administered parenteral antibiotics 2 weeks ago in a suspicion of endogenous endophthalmitis.
On examination, visual acuity in her right eye (RE) was 20/24, and LE visual acuity was 20/1900 (teller acuity card at 55 cm). Extraocular motility was full and there was no strabismus. On examination under general anesthesia, RE was unremarkable. LE showed circum-ciliary-congestion, cornea appeared clear, anterior chamber (AC) was moderate in depth, 360° posterior synechiae was present, few nodules were noted over the angle at 4 and 6 o'clock and on the surface of iris. Single localized pink globular mass with vascularization arising from the iris at 4 o'clock that appeared to extend behind onto posterior chamber was identified [Figure 1]. Hazily appearing lens hindered the view of the posterior segment. LE corneal diameter was measured as 11.5 mm and IOP was 8 mmHg. USG-B scan showed moderate to high reflective homogenous echo dense mass temporally arising from the ciliary body with no calcification. UBM revealed a large heterogenous mass lesion involving ciliary body with pockets of intralesional cyst, involving AC, angle, and iris with pupillary membrane [Figure 2]a, [Figure 2]b, [Figure 2]c. Magnetic resonance imaging (MRI) of LE showed an ill-defined soft tissue lesion in the inferior aspect (7 mm × 5 mm) of AC, involving iris and ciliary body which is hyperintense on T1 and hypointense to vitreous on T2 with no calcification or diffusion restriction. A linear retrolental soft tissue band from optic nerve head to the lesion was also noted. MRI of RE and brain were normal. The differential diagnosis considered were retinoblastoma, persistent hyperplastic primary vitreous (PHPV), endogenous endophthalmitis, medulloepithelioma, JXG, iris leiomyoma, rhabdomyosarcoma, and hemangioma.
|Figure 1: Clinical photograph of the left eye showing localized pink globular mass with vascularization on iris at 4 o'clock with few nodules on the surface of iris denoted by white arrow head|
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|Figure 2: (a-c) Ultrasound biomicroscopy showing a large heterogenous mass lesion involving ciliary body with pockets of intralesional cyst, involving anterior chamber, angle, and iris with pupillary membrane denoted by black arrow heads|
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Posterior segment examination of the LE through USG-B scan and MRI orbit helped in ruling out retinoblastoma and endogenous endophthalmitis. AC angle cyst and UBM findings of intralesional cystic cleft were mimicking medulloepithelioma. The appearance, extent of the lesion, and the soft tissue band intervening the lesion and optic disc raised a suspicion of PHPV. Despite the absence of cutaneous lesion, the pink globular vascular lesion brought in the possibility of JXG.
Incision biopsy was challenging as the vascularized mass lesion was densely adherent to the underlying iris and extending into the ciliary body. Tissue sample removed in pieces using iris holding forceps and microscissors. Histopathological examination (HPE) of the excision biopsy showed focal congested vasculature and proliferation of polymorphic round-to-oval cells with interspersed stromal cells and no evidence of giant cells. Hence, a possibility of JXG with vascular proliferation was provided. Immunohistochemistry showed CD3 to be diffuse positivity, CD68 scattered positivity, and S100-Negative.
Evaluation with pediatrician and dermatologist showed the absence of any extraocular or cutaneous manifestations of JXG. Child was started on topical steroids, E/D prednisolone acetate suspension 1% applied four times a day for 2-week duration. Two weeks later, she underwent cataract extraction and trans-scleral total excision of the mass lesion in her LE. An inferior 180° conjunctival peritomy was done. Lensectomy was performed through limbal route using two clear corneal incisions. A scleral flap was made at the inferotemporal quadrant. Scleral tissue along with the involved uveal tissue and mass lesion was excised. The scleral flap and conjunctival peritomy were closed with sutures. The excised tissue was sent for histopathological examination.
HPE as shown in [Figure 3]a, [Figure 3]b, [Figure 3]c, [Figure 3]d demonstrated stromal infiltration of eosinophils, histiocytes [[Figure 3]d black arrow], scattered lymphocytes, mixed inflammatory cellular infiltrate denoting Touton giant cells [[Figure 3]b black arrow], and well-defined granuloma with multinucleated cells which were confirmatory of JXG. Child has been on follow-up for the past 9 months and LE remained quiet. During the last consultation, RE was unremarkable with visual acuity of 20/24, and LE vision with aphakic glass was 20/960 (Teller acuity card at 55 cm). Fundus showed a normal-appearing disc, retinal fibrovascular fold extending anteriorly away from the disc and rest of the retina appeared attached, and UBM showed postsurgical complete resolution of the lesion [[Figure 4]a, [Figure 4]b, [Figure 4]c postoperative images]. Child has been compliant to aphakic glasses and occlusion therapy.
|Figure 3: (a-d) Histopathological examination with hematoxylin and eosin staining of the mass lesion obtained from surgical excision. (a) A ×10 magnification demonstrates fragments of pigmented tissue of ciliary body and sclera with minimal hyperplasia of ciliary muscles and pigment epithelium. (b) Touton giant cells (black arrow) with histiocytic infiltration of the iris stroma (×10). (c) A ×40 magnification demonstrates diffuse infiltration of chronic inflammatory cells and xanthomatous histiocytes. (d) Showing stromal infiltration of mixed inflammatory cells eosinophils, histiocytes with spindling (black arrow), and interspersed lymphocytes (×40)|
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|Figure 4: (a-c) Postoperative images. (a) Clinical photograph of the left eye showing healed corneal surgical scar inferiorly, iridectomy, and aphakia. (b) Postoperative fundus picture showing a normal optic disc, macula, and a fibrovascular retinal fold extending anteriorly away from the disc with attached retina. (c) Postoperative ultrasound biomicroscopy showing surgically resolved juvenile xanthogranuloma with no recurrence of lesion|
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| Discussion|| |
Histiocytic disorders can be broadly divided into LCH and non-LCH. JXG is regarded as the commonest form of non-LCH with rare systemic manifestations affecting mainly infants and small children. Isolated ocular lesions are uncommonly reported in JXG. However, the absence of a cutaneous lesion does not exclude it. Samara et al. reported in 31 eyes that ocular JXG preferentially affected iris and was often isolated without cutaneous involvement. Only 3% of iris tumor in patients age <20 years are reported to be due to JXG. In children, iris lesions often present with spontaneous hyphema and differential diagnosis such as trauma, neoplastic conditions such as retinoblastoma, medulloepithelioma and leukemia, retinopathy of prematurity, and blood dyscrasias should be clinically ruled out.
In children, UBM aids to identify the extent of lesion. Clinical histopathology remains the gold-standard method for diagnosis. Histologically, JXG is characterized with infiltration of lipid-laden histiocytes, accumulated foamy appearance in cytoplasm, Touton giant cells, and other multinucleated giant cells. Immunohistochemically, the histiocytic phenotype can be confirmed with a positive staining for CD68 and negative reaction for CD1a and S100 ruling out LCH., Zimmerman postulated five criteria each of which may indicate a possible intraocular manifestation of the JXG: (1) spontaneous hyphema, (2) a red eye with signs of uveitis, (3) congenital or acquired heterochromia iridis, (4) iris tumor, and (5) unilateral glaucoma. There exists no standard treatment for JXG. In uncomplicated cases, conservative globe-sparing nonsurgical approach such as topical/local steroid therapy, radiotherapy, and intraocular bevacizumab is recommended. Surgical measures are needed for local, noninfiltrating uveal lesions including iridectomy and iridocyclectomy. Unlike majority of the ocular manifestations reported in the literature, this child did not present with hyphema. Glaucoma is reported in many cases of JXG secondary to recurrent hyphema. This child had normal IOP and did not require antiglaucoma medications. JXG with cataract is rarely reported in literature. Atypical presentation of this child closely mimics medulloepithelioma which presents between 2 and 10 years of age and has been reported in infants as young as 6 months. Our child presented with combine diffuse infiltration into ciliary body with cataract which is sparsely reported in literature., Treatment of JXG is case based and total surgical excision of lesion is required for extensive lesions.
| Conclusion|| |
This case is reported because JXG has solely presented as an intraocular lesion involving iris and ciliary body in the form of diffuse infiltration type with cataract. Uveal tissue xanthogranuloma should be considered even in the absence of typical cutaneous findings. Timely and precise diagnosis can help in organ salvaging and vision restoration.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given her consent for her images and other clinical information to be reported in the journal. The patient understands that their name and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
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Conflicts of interest
There are no conflicts of interest.
| References|| |
Meyer P, Graeff E, Kohler C, Munier F, Bruder E. Juvenile xanthogranuloma involving concurrent iris and skin: Clinical, pathological and molecular pathological evaluations. Am J Ophthalmol Case Rep 2018;9:10-3.
Blank H, Eglick PG, Beerman H: Nevoxantho-endothe- lioma with ocular involvement. Pediatrics 1949;4:349-54.
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.
Ashkenazy N, Henry CR, Abbey AM, McKeown CA, Berrocal AM, Murray TG. Successful treatment of juvenile xanthogranuloma using bevacizumab. J AAPOS 2014;18:295-7.
Shields CL, Kancherla S, Patel J, Vijayvargiya P, Suriano MM, Kolbus E, et al
. Clinical survey of 3680 iris tumors based on patient age at presentation. Ophthalmology 2012;119:407-14.
Chang MW. Update on juvenile xanthogranuloma: Unusual cutaneous and systemic variants. Semin Cutan Med Surg 1999;18:195-205.
Zimmerman LE. Ocular lesions of juvenile xanthogranuloma. Nevoxanthoedothelioma. Am J Ophthalmol 1965;60:1011-35.
Vendal Z, Walton D, Chen T. Glaucoma in juvenile xanthogranuloma. Semin Ophthalmol 2006;21:191-4.
Muralidhar R, Jain A, Vijayalakshmi P, Suparna G, Santhi R, Shetty S. Cataract surgery in juvenile xanthogranuloma: Case report and a brief review of literature. Indian J Ophthalmol 2013;61:673-5.
] [Full text]
Shah PK, Meeralakshmi P, Shanthi R, Saravanan VR, Kalpana N, Narendran V. Pigmented ciliary body medulloepithelioma in a newborn infant. Oman J Ophthalmol 2017;10:257-8.
] [Full text]
DeBarge LR, Chan CC, Greenberg SC, McLean IW, Yannuzzi LA, Nussenblatt RB. Chorioretinal, iris, and ciliary body infiltration by juvenile xanthogranuloma masquerading as uveitis. Surv Ophthalmol 1994;39:65-71.
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