Orbit, 2015; 34(2): 106–108 ! Informa Healthcare USA, Inc. ISSN: 0167-6830 print / 1744-5108 online DOI: 10.3109/01676830.2014.997393
C ASE REPORT
Juvenile Xanthogranuloma–A Rare Cause of Unilateral Orbital Swelling in an Elderly Patient K.H. Patel1, M. El-Yassir2, and S.A. Erzurum3 1
Summa Health System, Akron, Ohio, USA, 2University Hospitals Eye Institute, Case Western Reserve University School of Medicine, Cleveland, Ohio, USA, and 3Department of Surgery, Eye Care Associates, Poland, Ohio, USA
ABSTRACT Objective: To report the clinical and pathologic features of an elderly patient with a unilateral orbital swelling and proptosis caused by Juvenile Xanthogranuloma diagnosed and confirmed by orbital biopsy. Design: Interventional case report. Participants: One patient. Intervention: Steroids (Medrol dose pack) and radiation. Main Outcome Measures: Unusual clinical presentation and pathological features of Juvenile Xanthogranuloma in the orbit. Conclusions: Juvenile Xanthogranuloma affecting one orbit is very rare with unilateral involvement in an elderly patient. Steroids and radiation therapy were very effective in treatment and provided impressive results. Keywords: Elderly, Juvenile Xanthogranuloma, orbital
INTRODUCTION
to potential extracutaneous involvement or accompanying systemic disease.4 Also in JXG, excisional therapy is usually unnecessary due to frequent spontaneous regression.4 Overall, only 15 patients with JXG of the orbit have been described in English-language literature; seven of them were adults, and the disease was bilateral in all of the cases.5 In this article, we report an elderly patient with JXG limited to one orbit who presented with orbital swelling and proptosis.
Juvenile Xanthogranuloma (JXG), previously known as nevoxanthoendothelioma, is a benign histiocytic inflammatory condition that mostly affects infants and children in the first few years of life.1,2 Its etiology is unknown, although there is some evidence that it may represent a histioxanthomatous response to local tissue injury.1 Touton giant cells with circularly arranged nuclei are histological characteristic of this disease and may be surrounded by cells undergoing xanthomatous change as demonstrated by Figure 1.1,2 Skin, eye lids, and iris are commonly affected.2,3 Although a rarity, there have been reports in the literature of JXG found in adults. JXG can be distinguished from the adult xanthogranulomas in the histopathological as well as clinical realm. It is much more difficult histopathologically due to the increased likelihood for XG to be the mixed type.4 Significant differences reported clinically include that in JXG special attention must be given
CASE REPORT A 72-year-old non-diabetic retired woman presented with painless left eye swelling in 2008. External examination revealed proptosis and decreased retropulsion of the left eye. The initial work-up consisted of a thyroid panel and an MRI to the head and orbits with and without contrast. The thyroid panel results were negative for thyroid disease. The orbital MRI
Received 23 February 2014; Revised 18 August 2014; Accepted 4 December 2014; Published online 13 March 2015 Correspondence: Sergul Erzurum, Department of Surgery, Eye Care Associates, 1075 W. Western Reserve Road, Poland, Ohio 44514, USA. E-mail: [email protected]
106
JXG: Orbital Swelling in an Elderly Patient
107
FIGURE 1. Touton giant cells with surrounding cells exemplifying xanthomatous change, histologically characteristic of JXG.
scan showed significant enlargement of the left lateral rectus muscle with the widest widths in the belly measuring about 13 mm. The left inferior rectus muscle was also enlarged with the widest width measuring about 7 mm. Both the left lateral and inferior rectus muscles showed significant diffuse enhancement and exhibited hypointensity on T2 imaging relative to the intraorbital fat. The patient was monitored. In January 2009, the patient presented with a new onset diplopia and restriction on left gaze. A diagnosis of inflammatory pseudotumor was initially made and she was started on methylprednisolone and a consultation with strabismologist was obtained. An evaluation by an ophthalmologist showed visual acuity of 20/20 in the right eye and 20/20 in the left eye. Pupils were negative for afferent pupil defect. Motility exam showed 20/25 left esotropia with restricted abduction of the left eye. The motility on the right eye was normal. Hertel measurements showed 8 mm of proptosis of the left eye and a normal posterior pole. At this time, a repeat MRI of the orbits was obtained. The images demonstrated enlargement of the lateral rectus muscle associated with proptosis and also enlargement of the superior rectus muscle as demonstrated by Figure 2. Inflammation and infiltrate pseudotumor formation was noted. The lesions enhanced in postcontrast images with massive enlargement of the left lateral rectus muscle. The enhancement extended into the tendinous insertion of the superior rectus muscle and lateral rectus muscle. Also, there was abnormal enhancement noted at the apex, extending into the cavernous sinus. Due to the recurrence of the symptoms and the involvement of the cavernous sinus, a biopsy of the left orbit was performed. The pathology slides demonstrated changes most consistent with JXG. The patient was treated with radiation along with methylprednisolone for complete resolution. During !
2015 Informa Healthcare USA, Inc.
FIGURE 2. MRI demonstrating enlargement of the lateral rectus and superior rectus muscles of the left eye.
the patient’s final visit, visual acuity was 20/20 in both eyes. Motility was full in both eyes with a 6 mm asymmetry of the left orbit on Hertel exophthalmometry.
DISCUSSION This case provides a unique perspective into the work-up of unilateral orbital swelling in elderly patients. It is unusually rare to see JXG in an elderly patient; however, as evidenced by this case, JXG must be considered in the differential diagnosis of unilateral orbital swelling. After ruling out other causes of exophthalmos such as thyroid disease or intraocular tumors, further diagnoses were considered. Due to the distinct histological pattern of JXG, it is essential to obtain a biopsy for the diagnosis. There have been other cases in the literature of JXG found in adults in differing systemic locations. One such case discusses a rare presentation of JXG found in the thoracic spine.6 Complete resection of the mass was undertaken with resolution of symptoms.6 Histological exam showed numerous Touton cells confirming the diagnosis of non-Langerhan’s histiocytic disorder JXG providing evidence to the importance of histopathological exam. The differential diagnosis of JXG histologically also includes other non-Langerhan’s histiocytic disorders such as Adult-onset xanthogranuloma (AOX) and generalized eruptive histiocytoma. AOX is rarely limited to the orbits.3 Histologically AOX has xanthoma cells, may have Touton cells, and lymphocytes, but is distinguishd, featuring fibrosis/ necrosis. Generalized eruptive histiocytoma will have histiocytic cells with vacuolated cytoplasm as a
108 K. H. Patel et al. distinguishing feature. All the non-Langerhan’s histiocytic disorders will lack Birbeck granules as a distinguishing feature. Although the differential diagnosis for orbital mass is broad, it is important to keep a high index of suspicion because of the good prognosis held by JXG.7 No aggressive treatment is necessary due to absence of visceral involvement as indicated by the case of JXG in a 21-year-old adult male.7 Nayak et al. also discusses how AOX usually has absence of extracutaneous involvement including the orbit, which is more likely a feature of JXG.7 Another case shows JXG presenting as bilateral non-infiltrative superior orbital tumor in a 27-year-old Nigerian woman.8 Although it was bilateral, which differs from our patient, Chuka and Darlinton discussed how bilaterally progressing painless mass lesion of superior orbit would also usually not evoke evaluation for JXG.8 Chuka and Darlinton further concludes that other cases such as Elner et al. and Malhotra et al. were dissimilar to his own due to tissue infiltration, skin lesions, or systemic symptoms.8 Our case also correlates to this conclusion and is most similar to the case of Chuka and Darlinton, but also is unique in nature due to unilateral involvement in the elderly age group with aggressive progression over 4–6 months. Even after treatment and near complete resolution of symptoms, we must continue to monitor this patient on a regular basis. It must be acknowledged that these patients are at increased risk of developing non-Hodgkin lymphoma.9 In conclusion, it is important to acknowledge that JXG should be diagnosed and treated after histopathological evidence and should be considered in the elderly population despite its significant rarity.
DECLARATION OF INTEREST The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.
REFERENCES 1. Wright KW, Spiegel PH, Thompson LS. Handbook of pediatric eye and systemic disease. 2nd Edition. New York: Springer Science+Business Media; 2003. pp. 266–268. 2. Rouhiainen H, Nerdrum K, Puustja¨rvi T, Kosma V. Xanthogranuloma juvenile–A rare cause of orbital swelling in adulthood. Clinicopathological case report. Ophthalmologica 1992;204:162–165. 3. Miller NR. Tumors derived from hematopoietic cells and tissue. In: Walsh and Hoyt’s clinical neurophthalmology. Miller NR, Newman NJ, eds. Baltimore, MD: Williams and Wilkins, 1988. pp. 1646–1648. 4. Chang S, Cho S, Choi JC, et al. Clinicohistopathologic comparison of adult type and juvenile type xanthogranulomas in Korea. J Dermatol 2001;28:413–418. 5. Mencia-Gutierrez E, Gutierrez-Diaz E, Santiago MaderoGarcia S. Juvenile xanthogranuloma of the orbit in an adult. Case report. Ophthalmologica 2000;214:437–440. 6. Jain A, Mathur K, Khatri S, et al. Rare presentation of juvenile xanthogranuloma in the thoracic spine of an adult patient: case report and literature review. Acta Neurochir (Wien) 2011;153(9):1813–1818. 7. Nayak S, Acharjya B, Devi B, Patra MK. Juvenile xanthogranuloma in an adult. Case report. Ind J Dermatol 2009;54:83–85. 8. Chuka OM, Darlinton ADC. Case Report. Juvenile xanthogranuloma presenting as bilateral non-infiltrative extraconal superior orbital tumour in a 27 year old Nigerian woman: features, management, and outcome. Clin Med Ins Case Rept 2012;5:129–135. 9. Shields CL, Shields JA, Buchanon HW. Solitary orbital involvement with juvenile xanthogranuloma. Arch Ophthalmol 1990;108:1587–1589.
Orbit
Copyright of Orbit is the property of Taylor & Francis Ltd and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use.
C ASE REPORT
Juvenile Xanthogranuloma–A Rare Cause of Unilateral Orbital Swelling in an Elderly Patient K.H. Patel1, M. El-Yassir2, and S.A. Erzurum3 1
Summa Health System, Akron, Ohio, USA, 2University Hospitals Eye Institute, Case Western Reserve University School of Medicine, Cleveland, Ohio, USA, and 3Department of Surgery, Eye Care Associates, Poland, Ohio, USA
ABSTRACT Objective: To report the clinical and pathologic features of an elderly patient with a unilateral orbital swelling and proptosis caused by Juvenile Xanthogranuloma diagnosed and confirmed by orbital biopsy. Design: Interventional case report. Participants: One patient. Intervention: Steroids (Medrol dose pack) and radiation. Main Outcome Measures: Unusual clinical presentation and pathological features of Juvenile Xanthogranuloma in the orbit. Conclusions: Juvenile Xanthogranuloma affecting one orbit is very rare with unilateral involvement in an elderly patient. Steroids and radiation therapy were very effective in treatment and provided impressive results. Keywords: Elderly, Juvenile Xanthogranuloma, orbital
INTRODUCTION
to potential extracutaneous involvement or accompanying systemic disease.4 Also in JXG, excisional therapy is usually unnecessary due to frequent spontaneous regression.4 Overall, only 15 patients with JXG of the orbit have been described in English-language literature; seven of them were adults, and the disease was bilateral in all of the cases.5 In this article, we report an elderly patient with JXG limited to one orbit who presented with orbital swelling and proptosis.
Juvenile Xanthogranuloma (JXG), previously known as nevoxanthoendothelioma, is a benign histiocytic inflammatory condition that mostly affects infants and children in the first few years of life.1,2 Its etiology is unknown, although there is some evidence that it may represent a histioxanthomatous response to local tissue injury.1 Touton giant cells with circularly arranged nuclei are histological characteristic of this disease and may be surrounded by cells undergoing xanthomatous change as demonstrated by Figure 1.1,2 Skin, eye lids, and iris are commonly affected.2,3 Although a rarity, there have been reports in the literature of JXG found in adults. JXG can be distinguished from the adult xanthogranulomas in the histopathological as well as clinical realm. It is much more difficult histopathologically due to the increased likelihood for XG to be the mixed type.4 Significant differences reported clinically include that in JXG special attention must be given
CASE REPORT A 72-year-old non-diabetic retired woman presented with painless left eye swelling in 2008. External examination revealed proptosis and decreased retropulsion of the left eye. The initial work-up consisted of a thyroid panel and an MRI to the head and orbits with and without contrast. The thyroid panel results were negative for thyroid disease. The orbital MRI
Received 23 February 2014; Revised 18 August 2014; Accepted 4 December 2014; Published online 13 March 2015 Correspondence: Sergul Erzurum, Department of Surgery, Eye Care Associates, 1075 W. Western Reserve Road, Poland, Ohio 44514, USA. E-mail: [email protected]
106
JXG: Orbital Swelling in an Elderly Patient
107
FIGURE 1. Touton giant cells with surrounding cells exemplifying xanthomatous change, histologically characteristic of JXG.
scan showed significant enlargement of the left lateral rectus muscle with the widest widths in the belly measuring about 13 mm. The left inferior rectus muscle was also enlarged with the widest width measuring about 7 mm. Both the left lateral and inferior rectus muscles showed significant diffuse enhancement and exhibited hypointensity on T2 imaging relative to the intraorbital fat. The patient was monitored. In January 2009, the patient presented with a new onset diplopia and restriction on left gaze. A diagnosis of inflammatory pseudotumor was initially made and she was started on methylprednisolone and a consultation with strabismologist was obtained. An evaluation by an ophthalmologist showed visual acuity of 20/20 in the right eye and 20/20 in the left eye. Pupils were negative for afferent pupil defect. Motility exam showed 20/25 left esotropia with restricted abduction of the left eye. The motility on the right eye was normal. Hertel measurements showed 8 mm of proptosis of the left eye and a normal posterior pole. At this time, a repeat MRI of the orbits was obtained. The images demonstrated enlargement of the lateral rectus muscle associated with proptosis and also enlargement of the superior rectus muscle as demonstrated by Figure 2. Inflammation and infiltrate pseudotumor formation was noted. The lesions enhanced in postcontrast images with massive enlargement of the left lateral rectus muscle. The enhancement extended into the tendinous insertion of the superior rectus muscle and lateral rectus muscle. Also, there was abnormal enhancement noted at the apex, extending into the cavernous sinus. Due to the recurrence of the symptoms and the involvement of the cavernous sinus, a biopsy of the left orbit was performed. The pathology slides demonstrated changes most consistent with JXG. The patient was treated with radiation along with methylprednisolone for complete resolution. During !
2015 Informa Healthcare USA, Inc.
FIGURE 2. MRI demonstrating enlargement of the lateral rectus and superior rectus muscles of the left eye.
the patient’s final visit, visual acuity was 20/20 in both eyes. Motility was full in both eyes with a 6 mm asymmetry of the left orbit on Hertel exophthalmometry.
DISCUSSION This case provides a unique perspective into the work-up of unilateral orbital swelling in elderly patients. It is unusually rare to see JXG in an elderly patient; however, as evidenced by this case, JXG must be considered in the differential diagnosis of unilateral orbital swelling. After ruling out other causes of exophthalmos such as thyroid disease or intraocular tumors, further diagnoses were considered. Due to the distinct histological pattern of JXG, it is essential to obtain a biopsy for the diagnosis. There have been other cases in the literature of JXG found in adults in differing systemic locations. One such case discusses a rare presentation of JXG found in the thoracic spine.6 Complete resection of the mass was undertaken with resolution of symptoms.6 Histological exam showed numerous Touton cells confirming the diagnosis of non-Langerhan’s histiocytic disorder JXG providing evidence to the importance of histopathological exam. The differential diagnosis of JXG histologically also includes other non-Langerhan’s histiocytic disorders such as Adult-onset xanthogranuloma (AOX) and generalized eruptive histiocytoma. AOX is rarely limited to the orbits.3 Histologically AOX has xanthoma cells, may have Touton cells, and lymphocytes, but is distinguishd, featuring fibrosis/ necrosis. Generalized eruptive histiocytoma will have histiocytic cells with vacuolated cytoplasm as a
108 K. H. Patel et al. distinguishing feature. All the non-Langerhan’s histiocytic disorders will lack Birbeck granules as a distinguishing feature. Although the differential diagnosis for orbital mass is broad, it is important to keep a high index of suspicion because of the good prognosis held by JXG.7 No aggressive treatment is necessary due to absence of visceral involvement as indicated by the case of JXG in a 21-year-old adult male.7 Nayak et al. also discusses how AOX usually has absence of extracutaneous involvement including the orbit, which is more likely a feature of JXG.7 Another case shows JXG presenting as bilateral non-infiltrative superior orbital tumor in a 27-year-old Nigerian woman.8 Although it was bilateral, which differs from our patient, Chuka and Darlinton discussed how bilaterally progressing painless mass lesion of superior orbit would also usually not evoke evaluation for JXG.8 Chuka and Darlinton further concludes that other cases such as Elner et al. and Malhotra et al. were dissimilar to his own due to tissue infiltration, skin lesions, or systemic symptoms.8 Our case also correlates to this conclusion and is most similar to the case of Chuka and Darlinton, but also is unique in nature due to unilateral involvement in the elderly age group with aggressive progression over 4–6 months. Even after treatment and near complete resolution of symptoms, we must continue to monitor this patient on a regular basis. It must be acknowledged that these patients are at increased risk of developing non-Hodgkin lymphoma.9 In conclusion, it is important to acknowledge that JXG should be diagnosed and treated after histopathological evidence and should be considered in the elderly population despite its significant rarity.
DECLARATION OF INTEREST The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.
REFERENCES 1. Wright KW, Spiegel PH, Thompson LS. Handbook of pediatric eye and systemic disease. 2nd Edition. New York: Springer Science+Business Media; 2003. pp. 266–268. 2. Rouhiainen H, Nerdrum K, Puustja¨rvi T, Kosma V. Xanthogranuloma juvenile–A rare cause of orbital swelling in adulthood. Clinicopathological case report. Ophthalmologica 1992;204:162–165. 3. Miller NR. Tumors derived from hematopoietic cells and tissue. In: Walsh and Hoyt’s clinical neurophthalmology. Miller NR, Newman NJ, eds. Baltimore, MD: Williams and Wilkins, 1988. pp. 1646–1648. 4. Chang S, Cho S, Choi JC, et al. Clinicohistopathologic comparison of adult type and juvenile type xanthogranulomas in Korea. J Dermatol 2001;28:413–418. 5. Mencia-Gutierrez E, Gutierrez-Diaz E, Santiago MaderoGarcia S. Juvenile xanthogranuloma of the orbit in an adult. Case report. Ophthalmologica 2000;214:437–440. 6. Jain A, Mathur K, Khatri S, et al. Rare presentation of juvenile xanthogranuloma in the thoracic spine of an adult patient: case report and literature review. Acta Neurochir (Wien) 2011;153(9):1813–1818. 7. Nayak S, Acharjya B, Devi B, Patra MK. Juvenile xanthogranuloma in an adult. Case report. Ind J Dermatol 2009;54:83–85. 8. Chuka OM, Darlinton ADC. Case Report. Juvenile xanthogranuloma presenting as bilateral non-infiltrative extraconal superior orbital tumour in a 27 year old Nigerian woman: features, management, and outcome. Clin Med Ins Case Rept 2012;5:129–135. 9. Shields CL, Shields JA, Buchanon HW. Solitary orbital involvement with juvenile xanthogranuloma. Arch Ophthalmol 1990;108:1587–1589.
Orbit
Copyright of Orbit is the property of Taylor & Francis Ltd and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use.
