Volume 18 Number 2 / April 2014
Herpes zoster ophthalmicus with isolated trochlear nerve palsy in an otherwise healthy 13-year-old girl Won Yeol Ryu, MD, Nam Yeong Kim, MD, Yoon Hyung Kwon, MD, and Hee Bae Ahn, MD Herpes zoster ophthalmicus is rare in healthy children. It is occasionally associated with extraocular muscle palsies and rarely with isolated trochlear nerve palsy. We report a case of unilateral isolated trochlear nerve palsy associated with herpes zoster ophthalmicus in an immunocompetent 13-year-old girl who presented with diplopia and blurred vision in her right eye. The right cornea had multiple subepithelial opacities. Ocular motility returned to normal and diplopia and corneal opacification resolved with steroid therapy. To our knowledge, this is the first such case involving the troclear nerve in a child.
Case Report
A
13-year-old girl presented at Dong-A University Medical Center, Busan, with binocular diplopia and blurred vision in her right eye of 2 weeks’ duration. Four weeks previously she was diagnosed with herpes zoster ophthalmicus (HZO) by a neurologist in part on the basis of multiple vesicular eruptions and lancinating pain on the right side of the lid, forehead, and tip of her nose. Analysis of cerebrospinal fluid showed no evidence of infection. The patient was treated with intravenous acyclovir (250 mg, 3 times/day for 7 days) and oral prednisolone (25 mg daily for 2 weeks with subsequent tapering), which resulted in resolution of skin lesions and pain. When the patient was evaluated at our clinic, oral prednisolone was reduced to 10 mg/day. Her medical history was otherwise unremarkable, with no immunological problems or varicella zoster virus (VZV) infection. Notably, the patient had been vaccinated against VZV once at the age of 1 year. She had never been treated with systemic immunosuppressant drugs. She did report that she had suffered from school-related stress prior to the onset of her symptoms. On ophthalmological examination, her visual acuity was 20/30 in the right eye and 20/20 in the left eye. The upper right eyelid was red and swollen. The eschar that had devel-
Author affiliations: Department of Ophthalmology, Dong-A University College of Medicine, Busan, Republic of Korea Presented as a poster at the 109th Annual Meeting of the Korean Ophthalmological Society, Daegu, Republic of Korea, April 20-21, 2013. Submitted July 9, 2013. Revision accepted October 27, 2013. Correspondence: Won Yeol Ryu, MD, 3-1. Dongdaeshin-dong, Seo-gu, Busan, 602-715, Republic of Korea (email: [email protected]). J AAPOS 2014;18:193-195. Copyright Ó 2014 by the American Association for Pediatric Ophthalmology and Strabismus. 1091-8531/$36.00 http://dx.doi.org/10.1016/j.jaapos.2013.10.012
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oped after the vesicular eruption on the right side of the forehead was noted to have disappeared. However, the associated pigmentation changes remained. Intraocular pressure was 17 mm Hg in each eye. There were multiple subepithelial opacities without epithelial defects on the right cornea (e-Supplement 1, available at jaapos.org). Corneal sensitivity was measured as 4.0 cm in the right eye and 6.0 cm in the left eye using a Cochet-Bonnet esthesiometer (Luneau Ophtalmologies, Cartres Cedex, France). No other sign of inflammation was observed in the anterior chamber, sclera, retina, or optic disk. Ocular motility testing revealed mild underaction of the right superior oblique muscle and overaction of the right inferior oblique muscle (Figure 1). The distance and near deviation angles were both 5D of right hypertropia. A right hypertropia of 8D was measured in left gaze. The Bielschowsky head tilt test revealed 12D of right hypertropia on right tilt and orthotropia on left tilt. Fundus examination revealed extorsion of the right eye (e-Supplement 2, available at jaapos.org). A Hess test revealed an underaction of the right superior oblique muscle and right hypertropia worse in downgaze and in left gaze (e-Supplement 3, available at jaapos.org). The Maddox double-rod test revealed extorsion of 5 . The patient was diagnosed with an isolated trochlear nerve palsy. Orbital magnetic resonance imaging (MRI) with enhancement and cerebral angiography findings were normal. Both superior oblique muscles were of normal size and showed good interocular symmetry. Unfortunately, the trochlear nerves could not be identified because of problems with MRI resolution (e-Supplement 4, available at jaapos.org). Serologic testing was normal, including anti-human immunodeficiency virus, anti-hepatitis C virus, hepatitis B virus surface antigen, and the venereal disease research laboratory test. A complete blood count (with differential blood count) was also normal. Because the patient had been treated with antiviral agents and systemic steroids, we initiated oral prednisolone (20 mg/day) with subsequent tapering and mecobalamin (1 g/day) for 1 month. To treat the corneal opacities, 1% methylprednisolone eyedrops, 3 times daily, and 3% acyclovir ophthalmic ointment, 5 times daily, were prescribed. The patient’s diplopia began to improve by the 1-month follow-up. The distance deviation angles at this time were 2D of right hypertropia and the Bielschowsky head tilt test revealed 8D of right hypertropia on right tilt and orthotropia on left head tilt. At 2 months’ follow-up, the patient was orthotropic in the primary gaze and diplopia had resolved. Additionally, the patient had no vertical deviation in either the primary or head tilt position and her ocular motility function had recovered. The corneal opacities had disappeared as well, and visual acuity was 20/20 in each eye. At 9 months’ follow-up, deficits in ocular motility had completely resolved (e-Supplements 5-6, available at jaapos.org) and fundus examination revealed no excyclotorsion (e-Supplement 7, available at jaapos.org).
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FIG 1. First clinical examination. A, Nine cardinal gaze positions. A mild superior oblique muscle underaction and inferior oblique muscle overaction were present in the right eye. B, Bielschowsky head tilt test shows increased right hypertropia with right head tilt.
Discussion Herpes zoster usually occurs in adults .60 years of age, immunocompromised patients, and patients under treatment with systemic immunosuppressant drugs.1 The condition results from the reactivation of latent VZV.1,2 It is rare among healthy children; HZO is even less common.3-6 To our knowledge, this is the first report of HZO with isolated trochlear nerve palsy in a healthy child. The occurrence of HZO without extraocular muscle palsy in an otherwise healthy child is very rare, but cases have been reported3,7,8; in some cases, the HZO without extraocular palsy was attributable to the VZV vaccine. Because VZV exposure has been greatly reduced by the widespread VZV vaccination campaign, the vaccine should be considered as a possible cause of HZO in an otherwise healthy child. Extraocular muscle palsy in patients with HZO can be associated with damage to the oculomotor, trochlear, or abducens nerve, simultaneously or separately.9 Cases of isolated palsy sometimes involve the trochlear nerve.9,10 Marsh and colleagues9 reported that bilateral extraocular muscle palsies occurred in 5 of 58 patients with HZO and that contralateral muscle palsies occurred in 7 of 58 patients with HZO. The Hess chart, fundus images, and the Bielschowsky head tilt test are helpful in the diagnosis of extraocular muscle palsy, particularly isolated trochlear nerve palsy with subtle superior oblique underaction, which may be easily overlooked. The only other pediatric case of HZO with extraocular muscle palsy that has been reported in the literature also occurred in an immunocompetent patient.6 That case, however, involved the contralateral abducens nerve, whereas ours involved the ipsilateral trochlear nerve. The authors presumed that the abducens nerve palsy was caused
by direct viral damage incurred via vascular spread or systemic ischemic vasculitis. It is possible that our patient had a trochlear nerve palsy unrelated to HZV and that the diplopia resolved from increased fusional control, gained as visual acuity improved. However, considering the normalization of ocular motility, fundus torsion, double Maddox-rod, and Hess test results and the fact that both superior oblique muscles were of normal size, we believe that the patient recovered from a newly developed, acquired trochlear nerve palsy.
Literature Search PubMed/MEDLINE was searched for English-language articles for the period 1954-2013 using combinations of the following terms: fourth nerve, healthy child, herpes zoster ophthalmicus, nerve palsy, and trochlear nerve.
References 1. Liesegang TJ. Herpes zoster ophthalmicus: natural history, risk factors, clinical presentation, and morbidity. Ophthalmology 2008;115: S3-12. 2. Sanjay S, Chan EW, Gopal L, Hegde SR, Chang BC. Complete unilateral ophthalmoplegia in herpes zoster ophthalmicus. J Neuroophthalmol 2009;29:325-37. 3. Binder NR, Holland GN, Hosea S, Silverberg ML. Herpes zoster ophthalmicus in an otherwise-healthy child. J AAPOS 2005;9: 597-8. 4. De Freitas D, Martins EN, Adan C, Alvarenga LS, PavanLangston D. Herpes zoster ophthalmicus in otherwise healthy children. Am J Ophthalmol 2006;142:393-9. 5. Gandhewar J, Birchall W, Kwartz J. Ophthalmic herpes zoster in an 18-month-old child. J Pediatr Ophthalmol Strabismus 2005;42:57-8. 6. Liao W, Chu G, Hutnik CM. Herpes zoster ophthalmicus and sixth nerve palsy in a pediatric patient. Can J Ophthalmol 2007;42:152-3.
Journal of AAPOS
Volume 18 Number 2 / April 2014 7. Soeteman M, Willems RP, Busari JO. Herpes zoster ophthalmicus in an otherwise healthy 2-year-old child. BMJ Case Rep 2012 Oct 30. 8. Teran CG, Medows M. Herpes zoster ophthalmicus in a healthy child. BMJ Case Rep 2013 May 21. 9. Marsh RJ, Dulley B, Kelly V. External ocular motor palsies in ophthalmic zoster: a review. Br J Ophthalmol 1977;61:677-82. 10. Park KC, Yoon SS, Yoon JE, Rhee HY. A case of herpes zoster ophthalmicus with isolated trochlear nerve involvement. J Clin Neurol 2011;7:47-9.
Massive macronodular juvenile xanthogranuloma of the eyelid in a newborn Carol L. Shields, MD,a Alexandra S. Thaler,a Sara E. Lally, MD,a Chris J. Lin, BA,a Mark S. Trachtman, MD,b Ralph C. Eagle Jr, MD,c and Jerry A. Shields, MDa A newborn baby with a lump on his right upper eyelid that was unresponsive to warm compresses and oral antibiotics presented at 3 weeks of age with a yellow mass measuring 20 mm in diameter at the base. Preliminary diagnosis was benign choristomatous mass; and warm compresses were continued. The mass continued to enlarge and 5 weeks later was 35 mm, with a tight, atrophic overlying epidermis and greater pupillary occlusion. Concern for possible malignancy prompted surgical resection and reconstruction with a supraclavicular graft. Histopathology disclosed that the eyelid tissue was nearly completely replaced by a highly cellular histiocytic neoplasm with prominent eosinophilic, often foamy cytoplasm, and nuclear pleomorphism. Poorly formed Touton giant cells were found. The mass showed positive immunoreactivity, with histiocytic markers CD163 and factor XIII, and was negative for cytokeratin markers, smooth muscle actin, and desmin. These features were compatible with JXG.
J
uvenile xanthogranuloma (JXG) is a benign cutaneous disorder that occurs in infants and young children. This condition is characterized by multifocal
Author affiliations: aOcular Oncology Service, Wills Eye Institute, Thomas Jefferson University, Philadelphia, Pennsylvania; bLehigh Valley Eye Center (MST), Allentown, Pennsylvania; cOphthalmic Pathology Department, Wills Eye Institute, Thomas Jefferson University, Philadelphia Support provided by the Eye Tumor Research Foundation, Philadelphia, Pennsylvania (CLS, JAS), the Lucille Wiedman Fund for Pediatric Eye Cancer, Philadelphia, Pennsylvania (JAS, CLS), Lift for a Cure, Morrisdale, Pennsylvania (CLS), Carlos G. Bianciotto Retinoblastoma Research Fund, Philadelphia, Pennsylvania (CLS, JAS). The funders had no role in the design and conduct of the study, in the collection, analysis, and interpretation of the data, and in the preparation, review or approval o the manuscript. Submitted September 5, 2013. Revision accepted November 5, 2013. Correspondence: Carol L. Shields, MD, Ocular Oncology Service, Suite 1440, Wills Eye Institute, 840 Walnut Street, Philadelphia, Pennsylvania, 19107 (email: carol.shields@ shieldsoncology.com). J AAPOS 2014;18:195-197. Copyright Ó 2014 by the American Association for Pediatric Ophthalmology and Strabismus. 1091-8531/$36.00 http://dx.doi.org/10.1016/j.jaapos.2013.11.023
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yellow-red inflammatory nodules on the skin of 5-10 mm in diameter, classically appearing within the first 1 to 2 years of life.1 Ocular involvement with JXG is rare, estimated to occur in approximately 0.3% of cases.2 As a group, the histiocytoses, including JXG, generally occur in children and can appear at birth.1,3 A major literature review of 221 published reports on histiocytoses in the fetus or newborns identified the three most common types as Langerhans cell histiocytoses (n 5 104, 47%), hemophagocytic lymphohistiocytic syndromes (n 5 72, 33%), and JXG (n 5 45, 20%).3 We report a newborn infant with solitary massive JXG within the eyelid that exhibited progressive growth, necessitating resection to establish the diagnosis and prevent amblyopia.
Case Report A newborn boy was noted by his parents to have a red lesion on the right upper eyelid. An infection was suspected, but the lesion did not respond to oral antibiotics and hot compresses. The boy presented at the Wills Eye Hospital at 3 weeks of age with a yellow subepidermal eyelid mass that on examination measured 20 mm basally, with a tense overlying epidermis. There were no cutaneous lesions elsewhere. The remainder of the ocular and skin examination was normal. The preliminary diagnosis was benign choristomatous mass versus large, atypical sebaceous cyst. Hot compresses were advised. At 8 weeks, tumor enlargement to 35 mm basal diameter was noted (Figure 1). The concern for a possible malignant eyelid tumor prompted surgical resection. Intraoperatively an attempt was made to unroof the mass, but its tight adherence to the epidermal tissue prevented that. Therefore, the anterior lamella of eyelid tissue, sparing the tarsus and levator muscle, was removed with tumor intact. Reconstruction with supraclavicular cutaneous graft to the eyelid was performed. Histopathology disclosed total replacement of the eyelid dermis by a highly cellular histiocytic neoplasm that abutted but did not penetrate the epidermis. The tumor comprised large mononuclear cells with prominent eosinophilic, often foamy, cytoplasm and nuclear pleomorphism. Additional spindled cells, occasional lipid-laden cells, a few scattered eosinophils, and small lymphocytes were noted. Cellular atypia was absent and mitoses were rare. Stray, poorly formed, multinucleated Touton giant cells were identified. The tumor cells showed positive immunoreactivity for histiocytic markers CD163, factor XIII, and CD 68 (Figure 2) and negative immunoreactivity for CD1a, CD31, CD34, CD45, CD117, S100, desmin, Cam 5.2, AE1-3, and SMA. The Ki67 proliferation marker showed that 5% to 10% of the tumor cells were cycling and that 5% of the cells stained dimly with TP53. The final diagnosis was massive JXG of the eyelid. No local or systemic abnormalities were evident at the 1-year postoperative follow-up. The graft had healed well and cosmetic appearance was satisfactory.
Herpes zoster ophthalmicus with isolated trochlear nerve palsy in an otherwise healthy 13-year-old girl Won Yeol Ryu, MD, Nam Yeong Kim, MD, Yoon Hyung Kwon, MD, and Hee Bae Ahn, MD Herpes zoster ophthalmicus is rare in healthy children. It is occasionally associated with extraocular muscle palsies and rarely with isolated trochlear nerve palsy. We report a case of unilateral isolated trochlear nerve palsy associated with herpes zoster ophthalmicus in an immunocompetent 13-year-old girl who presented with diplopia and blurred vision in her right eye. The right cornea had multiple subepithelial opacities. Ocular motility returned to normal and diplopia and corneal opacification resolved with steroid therapy. To our knowledge, this is the first such case involving the troclear nerve in a child.
Case Report
A
13-year-old girl presented at Dong-A University Medical Center, Busan, with binocular diplopia and blurred vision in her right eye of 2 weeks’ duration. Four weeks previously she was diagnosed with herpes zoster ophthalmicus (HZO) by a neurologist in part on the basis of multiple vesicular eruptions and lancinating pain on the right side of the lid, forehead, and tip of her nose. Analysis of cerebrospinal fluid showed no evidence of infection. The patient was treated with intravenous acyclovir (250 mg, 3 times/day for 7 days) and oral prednisolone (25 mg daily for 2 weeks with subsequent tapering), which resulted in resolution of skin lesions and pain. When the patient was evaluated at our clinic, oral prednisolone was reduced to 10 mg/day. Her medical history was otherwise unremarkable, with no immunological problems or varicella zoster virus (VZV) infection. Notably, the patient had been vaccinated against VZV once at the age of 1 year. She had never been treated with systemic immunosuppressant drugs. She did report that she had suffered from school-related stress prior to the onset of her symptoms. On ophthalmological examination, her visual acuity was 20/30 in the right eye and 20/20 in the left eye. The upper right eyelid was red and swollen. The eschar that had devel-
Author affiliations: Department of Ophthalmology, Dong-A University College of Medicine, Busan, Republic of Korea Presented as a poster at the 109th Annual Meeting of the Korean Ophthalmological Society, Daegu, Republic of Korea, April 20-21, 2013. Submitted July 9, 2013. Revision accepted October 27, 2013. Correspondence: Won Yeol Ryu, MD, 3-1. Dongdaeshin-dong, Seo-gu, Busan, 602-715, Republic of Korea (email: [email protected]). J AAPOS 2014;18:193-195. Copyright Ó 2014 by the American Association for Pediatric Ophthalmology and Strabismus. 1091-8531/$36.00 http://dx.doi.org/10.1016/j.jaapos.2013.10.012
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oped after the vesicular eruption on the right side of the forehead was noted to have disappeared. However, the associated pigmentation changes remained. Intraocular pressure was 17 mm Hg in each eye. There were multiple subepithelial opacities without epithelial defects on the right cornea (e-Supplement 1, available at jaapos.org). Corneal sensitivity was measured as 4.0 cm in the right eye and 6.0 cm in the left eye using a Cochet-Bonnet esthesiometer (Luneau Ophtalmologies, Cartres Cedex, France). No other sign of inflammation was observed in the anterior chamber, sclera, retina, or optic disk. Ocular motility testing revealed mild underaction of the right superior oblique muscle and overaction of the right inferior oblique muscle (Figure 1). The distance and near deviation angles were both 5D of right hypertropia. A right hypertropia of 8D was measured in left gaze. The Bielschowsky head tilt test revealed 12D of right hypertropia on right tilt and orthotropia on left tilt. Fundus examination revealed extorsion of the right eye (e-Supplement 2, available at jaapos.org). A Hess test revealed an underaction of the right superior oblique muscle and right hypertropia worse in downgaze and in left gaze (e-Supplement 3, available at jaapos.org). The Maddox double-rod test revealed extorsion of 5 . The patient was diagnosed with an isolated trochlear nerve palsy. Orbital magnetic resonance imaging (MRI) with enhancement and cerebral angiography findings were normal. Both superior oblique muscles were of normal size and showed good interocular symmetry. Unfortunately, the trochlear nerves could not be identified because of problems with MRI resolution (e-Supplement 4, available at jaapos.org). Serologic testing was normal, including anti-human immunodeficiency virus, anti-hepatitis C virus, hepatitis B virus surface antigen, and the venereal disease research laboratory test. A complete blood count (with differential blood count) was also normal. Because the patient had been treated with antiviral agents and systemic steroids, we initiated oral prednisolone (20 mg/day) with subsequent tapering and mecobalamin (1 g/day) for 1 month. To treat the corneal opacities, 1% methylprednisolone eyedrops, 3 times daily, and 3% acyclovir ophthalmic ointment, 5 times daily, were prescribed. The patient’s diplopia began to improve by the 1-month follow-up. The distance deviation angles at this time were 2D of right hypertropia and the Bielschowsky head tilt test revealed 8D of right hypertropia on right tilt and orthotropia on left head tilt. At 2 months’ follow-up, the patient was orthotropic in the primary gaze and diplopia had resolved. Additionally, the patient had no vertical deviation in either the primary or head tilt position and her ocular motility function had recovered. The corneal opacities had disappeared as well, and visual acuity was 20/20 in each eye. At 9 months’ follow-up, deficits in ocular motility had completely resolved (e-Supplements 5-6, available at jaapos.org) and fundus examination revealed no excyclotorsion (e-Supplement 7, available at jaapos.org).
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FIG 1. First clinical examination. A, Nine cardinal gaze positions. A mild superior oblique muscle underaction and inferior oblique muscle overaction were present in the right eye. B, Bielschowsky head tilt test shows increased right hypertropia with right head tilt.
Discussion Herpes zoster usually occurs in adults .60 years of age, immunocompromised patients, and patients under treatment with systemic immunosuppressant drugs.1 The condition results from the reactivation of latent VZV.1,2 It is rare among healthy children; HZO is even less common.3-6 To our knowledge, this is the first report of HZO with isolated trochlear nerve palsy in a healthy child. The occurrence of HZO without extraocular muscle palsy in an otherwise healthy child is very rare, but cases have been reported3,7,8; in some cases, the HZO without extraocular palsy was attributable to the VZV vaccine. Because VZV exposure has been greatly reduced by the widespread VZV vaccination campaign, the vaccine should be considered as a possible cause of HZO in an otherwise healthy child. Extraocular muscle palsy in patients with HZO can be associated with damage to the oculomotor, trochlear, or abducens nerve, simultaneously or separately.9 Cases of isolated palsy sometimes involve the trochlear nerve.9,10 Marsh and colleagues9 reported that bilateral extraocular muscle palsies occurred in 5 of 58 patients with HZO and that contralateral muscle palsies occurred in 7 of 58 patients with HZO. The Hess chart, fundus images, and the Bielschowsky head tilt test are helpful in the diagnosis of extraocular muscle palsy, particularly isolated trochlear nerve palsy with subtle superior oblique underaction, which may be easily overlooked. The only other pediatric case of HZO with extraocular muscle palsy that has been reported in the literature also occurred in an immunocompetent patient.6 That case, however, involved the contralateral abducens nerve, whereas ours involved the ipsilateral trochlear nerve. The authors presumed that the abducens nerve palsy was caused
by direct viral damage incurred via vascular spread or systemic ischemic vasculitis. It is possible that our patient had a trochlear nerve palsy unrelated to HZV and that the diplopia resolved from increased fusional control, gained as visual acuity improved. However, considering the normalization of ocular motility, fundus torsion, double Maddox-rod, and Hess test results and the fact that both superior oblique muscles were of normal size, we believe that the patient recovered from a newly developed, acquired trochlear nerve palsy.
Literature Search PubMed/MEDLINE was searched for English-language articles for the period 1954-2013 using combinations of the following terms: fourth nerve, healthy child, herpes zoster ophthalmicus, nerve palsy, and trochlear nerve.
References 1. Liesegang TJ. Herpes zoster ophthalmicus: natural history, risk factors, clinical presentation, and morbidity. Ophthalmology 2008;115: S3-12. 2. Sanjay S, Chan EW, Gopal L, Hegde SR, Chang BC. Complete unilateral ophthalmoplegia in herpes zoster ophthalmicus. J Neuroophthalmol 2009;29:325-37. 3. Binder NR, Holland GN, Hosea S, Silverberg ML. Herpes zoster ophthalmicus in an otherwise-healthy child. J AAPOS 2005;9: 597-8. 4. De Freitas D, Martins EN, Adan C, Alvarenga LS, PavanLangston D. Herpes zoster ophthalmicus in otherwise healthy children. Am J Ophthalmol 2006;142:393-9. 5. Gandhewar J, Birchall W, Kwartz J. Ophthalmic herpes zoster in an 18-month-old child. J Pediatr Ophthalmol Strabismus 2005;42:57-8. 6. Liao W, Chu G, Hutnik CM. Herpes zoster ophthalmicus and sixth nerve palsy in a pediatric patient. Can J Ophthalmol 2007;42:152-3.
Journal of AAPOS
Volume 18 Number 2 / April 2014 7. Soeteman M, Willems RP, Busari JO. Herpes zoster ophthalmicus in an otherwise healthy 2-year-old child. BMJ Case Rep 2012 Oct 30. 8. Teran CG, Medows M. Herpes zoster ophthalmicus in a healthy child. BMJ Case Rep 2013 May 21. 9. Marsh RJ, Dulley B, Kelly V. External ocular motor palsies in ophthalmic zoster: a review. Br J Ophthalmol 1977;61:677-82. 10. Park KC, Yoon SS, Yoon JE, Rhee HY. A case of herpes zoster ophthalmicus with isolated trochlear nerve involvement. J Clin Neurol 2011;7:47-9.
Massive macronodular juvenile xanthogranuloma of the eyelid in a newborn Carol L. Shields, MD,a Alexandra S. Thaler,a Sara E. Lally, MD,a Chris J. Lin, BA,a Mark S. Trachtman, MD,b Ralph C. Eagle Jr, MD,c and Jerry A. Shields, MDa A newborn baby with a lump on his right upper eyelid that was unresponsive to warm compresses and oral antibiotics presented at 3 weeks of age with a yellow mass measuring 20 mm in diameter at the base. Preliminary diagnosis was benign choristomatous mass; and warm compresses were continued. The mass continued to enlarge and 5 weeks later was 35 mm, with a tight, atrophic overlying epidermis and greater pupillary occlusion. Concern for possible malignancy prompted surgical resection and reconstruction with a supraclavicular graft. Histopathology disclosed that the eyelid tissue was nearly completely replaced by a highly cellular histiocytic neoplasm with prominent eosinophilic, often foamy cytoplasm, and nuclear pleomorphism. Poorly formed Touton giant cells were found. The mass showed positive immunoreactivity, with histiocytic markers CD163 and factor XIII, and was negative for cytokeratin markers, smooth muscle actin, and desmin. These features were compatible with JXG.
J
uvenile xanthogranuloma (JXG) is a benign cutaneous disorder that occurs in infants and young children. This condition is characterized by multifocal
Author affiliations: aOcular Oncology Service, Wills Eye Institute, Thomas Jefferson University, Philadelphia, Pennsylvania; bLehigh Valley Eye Center (MST), Allentown, Pennsylvania; cOphthalmic Pathology Department, Wills Eye Institute, Thomas Jefferson University, Philadelphia Support provided by the Eye Tumor Research Foundation, Philadelphia, Pennsylvania (CLS, JAS), the Lucille Wiedman Fund for Pediatric Eye Cancer, Philadelphia, Pennsylvania (JAS, CLS), Lift for a Cure, Morrisdale, Pennsylvania (CLS), Carlos G. Bianciotto Retinoblastoma Research Fund, Philadelphia, Pennsylvania (CLS, JAS). The funders had no role in the design and conduct of the study, in the collection, analysis, and interpretation of the data, and in the preparation, review or approval o the manuscript. Submitted September 5, 2013. Revision accepted November 5, 2013. Correspondence: Carol L. Shields, MD, Ocular Oncology Service, Suite 1440, Wills Eye Institute, 840 Walnut Street, Philadelphia, Pennsylvania, 19107 (email: carol.shields@ shieldsoncology.com). J AAPOS 2014;18:195-197. Copyright Ó 2014 by the American Association for Pediatric Ophthalmology and Strabismus. 1091-8531/$36.00 http://dx.doi.org/10.1016/j.jaapos.2013.11.023
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yellow-red inflammatory nodules on the skin of 5-10 mm in diameter, classically appearing within the first 1 to 2 years of life.1 Ocular involvement with JXG is rare, estimated to occur in approximately 0.3% of cases.2 As a group, the histiocytoses, including JXG, generally occur in children and can appear at birth.1,3 A major literature review of 221 published reports on histiocytoses in the fetus or newborns identified the three most common types as Langerhans cell histiocytoses (n 5 104, 47%), hemophagocytic lymphohistiocytic syndromes (n 5 72, 33%), and JXG (n 5 45, 20%).3 We report a newborn infant with solitary massive JXG within the eyelid that exhibited progressive growth, necessitating resection to establish the diagnosis and prevent amblyopia.
Case Report A newborn boy was noted by his parents to have a red lesion on the right upper eyelid. An infection was suspected, but the lesion did not respond to oral antibiotics and hot compresses. The boy presented at the Wills Eye Hospital at 3 weeks of age with a yellow subepidermal eyelid mass that on examination measured 20 mm basally, with a tense overlying epidermis. There were no cutaneous lesions elsewhere. The remainder of the ocular and skin examination was normal. The preliminary diagnosis was benign choristomatous mass versus large, atypical sebaceous cyst. Hot compresses were advised. At 8 weeks, tumor enlargement to 35 mm basal diameter was noted (Figure 1). The concern for a possible malignant eyelid tumor prompted surgical resection. Intraoperatively an attempt was made to unroof the mass, but its tight adherence to the epidermal tissue prevented that. Therefore, the anterior lamella of eyelid tissue, sparing the tarsus and levator muscle, was removed with tumor intact. Reconstruction with supraclavicular cutaneous graft to the eyelid was performed. Histopathology disclosed total replacement of the eyelid dermis by a highly cellular histiocytic neoplasm that abutted but did not penetrate the epidermis. The tumor comprised large mononuclear cells with prominent eosinophilic, often foamy, cytoplasm and nuclear pleomorphism. Additional spindled cells, occasional lipid-laden cells, a few scattered eosinophils, and small lymphocytes were noted. Cellular atypia was absent and mitoses were rare. Stray, poorly formed, multinucleated Touton giant cells were identified. The tumor cells showed positive immunoreactivity for histiocytic markers CD163, factor XIII, and CD 68 (Figure 2) and negative immunoreactivity for CD1a, CD31, CD34, CD45, CD117, S100, desmin, Cam 5.2, AE1-3, and SMA. The Ki67 proliferation marker showed that 5% to 10% of the tumor cells were cycling and that 5% of the cells stained dimly with TP53. The final diagnosis was massive JXG of the eyelid. No local or systemic abnormalities were evident at the 1-year postoperative follow-up. The graft had healed well and cosmetic appearance was satisfactory.
