Ophthal Plast Reconstr Surg, Vol. 31, No. 1, 2015
bicanalicular stylet. Other reported complications of bicanalicular intubation include punctal or canalicular slitting, granuloma formation, superior loop dislocation, and chronic nasal irritation.1,4–6 In this case, the stylet of the stent was inadvertently implanted in the middle cranial fossa via the superior orbital fissure, narrowly missing critical structures such as the cavernous sinus and carotid artery (Fig. 2). With retrospective consideration, the authors have identified the following points that may prevent such an incident from recurring. First, preoperatively identify which canaliculi are involved. Monocanalicular stents are technically easier to insert and have a reduced risk profile, so may better suit cases with only a single involved canaliculus. Second, intraoperatively identify both ends of the lacerated canaliculus. This may require an operating microscope or loupes. Finally, recognize that the stylet length is significantly longer than the nasolacrimal duct. If the stylet end is not retrieved after introduction of the appropriate length, reassess, and consider endoscopic visualization. In addition to these practical steps, surgeons with less experience with canalicular intubation should have a low threshold for involving an oculoplastic surgeon in such cases. In conclusion, this case demonstrates an unusual but potentially life-threatening complication of bicanalicular stent insertion. Canalicular lacerations are common in the setting of periocular trauma, and successful repair involving canalicular intubation is desired to restore lacrimal anatomy and function. With thorough preoperative assessment, surgical experience, and meticulous repair, such complications may be prevented.
REFERENCES 1. Reifler DM. Management of canalicular laceration. Surv Ophthalmol 1991;36:113–32. 2. Walter WL. The use of the pigtail probe for silicone intubation of the injured canaliculus. Ophthalmic Surg 1982;13:488–92. 3. Neuhaus RW. Silicone intubation of traumatic canalicular lacerations. Ophthal Plast Reconstr Surg 1989;5:256–60. 4. Dresner SC, Codère F, Brownstein S, et al. Lacrimal drainage system inflammatory masses from retained silicone tubing. Am J Ophthalmol 1984;98:609–13. 5. Anderson RL, Edwards JJ. Indications, complications and results with silicone stents. Ophthalmology 1979;86:1474–87. 6. Lauring L. Silicone intubation of the lacrimal system: pitfalls, problems and complications. Ann Ophthalmol 1976;8:489–98.
Case Reports
CASE REPORT A 56-year-old Caucasian woman was referred to for a 1-month history of an enlarging nodule beneath her right upper eyelid. She denied any visual changes. She admitted to feeling pressure and a “twitching” feeling around the nodule. She has no significant past ocular history. Her medical history was significant for removal of a brain aneurysm several years prior and hand reconstructive surgery. Examination showed that her best-corrected visual acuity (BCVA) was 20/20 in OU. Pupils were equal, round, and reactive to light. There was no relative afferent pupillary defect. Hertel measurements at a base of 90 were 16.5 and 15.0 in the OD and OS, respectively. The intraocular pressure (IOP) was 20 mm Hg OU. Slit lamp biomicroscopy showed mild nuclear sclerotic cataracts in OU. There was a palpable mass in the lacrimal fossa along the right upper eyelid with overlying periocular inflammation. A CT scan of the orbits and sella demonstrated an asymmetric prominence of the right lacrimal gland without bony changes (Fig. 1). The patient underwent a right orbitotomy and incisional biopsy without complication. Gross examination of the biopsy specimen revealed a piece of tan tissue measuring 7 × 2 × 2 mm. Microscopic examination showed a mass composed of numerous histiocytes with ground glass cytoplasm (Fig. 2). There were occasional giant cells present, and some of the histiocytes contained vacuolated cytoplasm. Rare lymphocytes were present. Immunohistochemical stains were positive for CD68 and vimentin and negative for CD1a and S100 in the histiocytes. The lymphocytes immunostained for CD3. Based on the histologic appearance and immunohistochemical stains, the diagnosis was reticulohistiocytoma (RH). This study was Health Insurance Portability and Accountability Act compliant at this institution.
Reticulohistiocytoma of the Orbit Heather M. Weissman, M.D.*, Brent R. Hayek, M.D.*, and Hans E. Grossniklaus, M.D.*† Abstract: Reticulohistiocytoma is a rare, benign histiocytic proliferation of the skin or soft tissue. While ocular involvement has been documented in the past, there have been no previously reported cases of reticulohistiocytoma of the orbit. In this report, the authors describe a reticulohistiocytoma of the orbit in a middle-aged woman. Accepted for publication August 21, 2013. From the Departments of *Ophthalmology and †Pathology, Emory University School of Medicine, Atlanta, Georgia, U.S.A. Supported, in part, by NIH P30EY06360 and an unrestricted grant from Research to Prevent Blindness, Inc. The authors have no financial or conflicts of interest to disclose. Address correspondence and reprint requests to Hans E. Grossniklaus M.D., L. F. Montgomery Ophthalmic Pathology Laboratory, Emory Eye Center. BT 428, 1365 Clifton Rd., NE, Atlanta GA 30322. E-mail: [email protected]
FIG. 1. CT of orbits shows a mass in the lacrimal gland area (arrow) demonstrated by the transverse (top) and coronal (bottom) views.
© 2014 The American Society of Ophthalmic Plastic and Reconstructive Surgery, Inc.
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Case Reports
FIG. 2. A, The mass is composed of a diffuse sheet of histiocytes with ground glass cytoplasm. B, The histiocytes contain vesiculated nuclei with prominent nucleoli (arrowhead). C, There are occasional giant cells present (arrow). D, There are intervening bundles of collagen between collections of histiocytes. Immunohistochemical stains are positive for vimentin (E) and CD68 (F) in the histiocytes. A, hematoxylin-eosin, ×100; B, hematoxylin-eosin, ×150; C, periodic acid-Schiff, ×100; D, Masson trichrome, ×100; E, and F, peroxidase anti-peroxidase, ×100.
DISCUSSION RH, also known as solitary epithelioid histiocytoma, is a rare histiocytic proliferation of the skin or soft tissue.1 It is a nonneoplastic entity arising from macrophages rather than dendritic histiocytes. Histologically, RHs are composed of large mononuclear and multinucleated histiocytes with “ground glass” cytoplasm. The histiocytes are surrounded by a mixture of various inflammatory cells2 including granulocytes and T lymphocytes (not B lymphocytes).3 There have been 2 clinicopathologic reports of epibulbar solitary RHs and 2 reports of solitary RHs of the eyelid.3,4 The 2 epibulbar cases were localized to the limbus and cornea without skin involvement.2 RH and multicentric reticulohistiocytosis are 2 diseases that fall under the spectrum of reticulohistiocytosis. RH is an isolated lesion without systemic involvement.2 In contrast, multicentric reticulohistiocytosis is manifest by multiple nodules5 and can be differentiated from solitary RH by its association with systemic disease. Sometimes referred to as “lipoid dermatoarthritis,” patients with multicentric reticulohistiocytosis may have arthropathy,1 and there may be an associated internal malignancy.6 Both entities occur predominantly in adults. Historically, RHs occur in young adults with a slight male
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predominance.1 RHs are thought to be nonneoplastic, localized, cytokine-induced collection of histiocytes reacting to an unknown stimulus.1 Goette et al.7 proposed a classification system for reticulohistiocytic lesions that include the following 3 categories: solitary cutaneous RH, multiple cutaneous RHs, and multicentric reticulohistiocytosis. In response to this classification system after 2 cases of ocular reticulohistiocytosis were discovered, Allaire et al.2 proposed a fourth category of solitary noncutaneous RH. This case of RH of the orbit falls in this fourth category of reticulohistiocytic lesions. There are several entities in the differential diagnosis for histiocytic lesions involving the eye and orbit including RosaiDorfman disease, Langerhans cell histiocytosis, juvenile xanthogranuloma, histiocytic sarcoma, and Erdheim-Chester disease (Table). According to the WHO committee and the Histiocyte Society,8 histiocytic lesions are classified according to their cell of origin. The dendritic cell-derived diseases include Langerhans cell histiocytosis, juvenile xanthogranuloma, and solitary histiocytomas of dendritic cell phenotypes. Macrophage-derived diseases include Rosai-Dorfman disease and solitary histiocytoma with the macrophage phenotype. Immunohistochemistry
© 2014 The American Society of Ophthalmic Plastic and Reconstructive Surgery, Inc.
Ophthal Plast Reconstr Surg, Vol. 31, No. 1, 2015
Case Reports
Differential diagnosis of histiocytic lesions1,2,10–13 Disease
Age
Predominant sex
Reticulohistiocytoma (Solitary epithelioid histiocytoma)
Young adults (can occur Male from childhood to adulthood)
Langerhans Cell Histiocytosis
Children
No sex predilection
Rosai-Dorfman Disease
Child/young adults
Male
Juvenile xanthogranuloma
Children/young adults
Male
Histiocytic sarcoma
Middle aged
No sex predilection
Erdheim-Chester disease
Middle aged
No sex predilection
Clinical presentation
Pathology
Solitary skin or soft Large, mononuclear tissue nodule, reports and multinucleated of orbital involvement histiocytes with limited to corneal and “ground glass” limbal involvement appearing cytoplasm admixed with inflammatory cells Clinical variability Histiocytes admixed (small bony lesion to with eosinophils, multisystem disease); lymphocytes, plasma orbital involvement cells and neutrophils. includes lytic defects Langerhans cells in the orbit commonly contain Birbeck found in the sphenoid granules. wing Skin lesions associated Histiocytes with with bilateral, massive, polymorphism with painless cervical pale or eosinophilic lymphadenopathy; cytoplasm and low-grade fever, weight emperipolesis loss, leukocytosis Dermal or subcutaneous Touton-type histiocytic mass (eyelid) cells; numerous eosinophilic granulocytes Skin or soft tissues mass Epithelioid histiocytes with nuclear atypia and mitotic activity Systemic disease with Dense infiltrates of ophthalmic foamy histiocytes, involvement limited lymphocytes, to exophthalmos monocytes, and secondary to Touton giant cells retrobulbar infiltration and xanthelasma-like lesion on the eyelid
has elucidated these histiocytic lesions by highlighting the cell of origin. Macrophages stain positive for lysozyme, CD45, and CD14; Langerhans cells stain positive for CD45, S100, and CD1a; Dendritic cells stain positive for CD45 and S100.8 As mentioned above and shown in Table, RHs exhibit a macrophage, histiocytic immunophenotype and therefore express CD68, CD163, and lysozyme. Rosai-Dorfman disease, otherwise known as sinus histiocytosis with massive lymphadenopathy, is associated with multiple skin nodules and lymphadenopathy. The histiocytes in this disease are nonLangerhans cells and usually S100 positive.1 Langerhans cell histiocytosis is a histiocytic disease that occurs in children and commonly presents as a lytic defect affecting the superotemporal orbit or sphenoid wing.9 In contrast to Rosai-Dorfman disease, Langerhans cell histiocytosis cells bear the Langerhans cell granule (Birbeck granule) and are CD1a and S100 positive. Juvenile xanthogranuloma is an uncommon inflammatory condition that is predominantly found in children2 and classically contain Touton-type histiocytic giant cells with numerous eosinophilic histiocytes.1 The cells in juvenile xanthogranuloma immunostain for CD68 and usually Factor XIIIa; however, they do not contain Birbeck granules. Histiocytic sarcoma is a rare tumor that can present in any tissue. It is composed of epithelioid histiocytes with nuclear atypia and mitotic activity.1 Erdheim-Chester disease is a rare form of histiocytosis characterized by bone, heart, lung, liver, kidney, and brain involvement. It can rarely present with retrobulbar infiltration causing proptosis or xanthelasma-like
Immunohistochemistry CD163, CD68, alpha-1 antitrypsin+
S100, CD1a +
S100, CD68+
CD68, Factor XIIIa+
Lysozyme, KiM8, S100, CD21, CD35+ CD68 +, negative S100 and Cd1a
lesions on the eyelid.10,11 This case was interpreted to represent a solitary RH by its positive staining for CD68, vimentin, alpha-1 antitrypsin and negative staining for CD1a and S100. The case presented above is an unusual case of RH of the orbit. The patient presented has an isolated orbital nodule unassociated with systemic disease. Histopathologically, the lesion was composed of large mononuclear cells, histiocytes with vacuolated cytoplasm, and a few dispersed multinucleated cells. Immunohistochemical stains for CD68 and vimentin along with negative stains for S100 and CD1a confirmed the diagnosis as a RH with a macrophage histiocytic origin. RH should be considered in the differential of a benign, painless orbital lesion.
REFERENCES 1. Miettinen M, Fetsch JF. Reticulohistiocytoma (solitary epithelioid histiocytoma): a clinicopathologic and immunohistochemical study of 44 cases. Am J Surg Pathol 2006;30:521–8. 2. Allaire GS, Hidayat AA, Zimmerman LE, et al. Reticulohistiocytoma of the limbus and cornea. A clinicopathologic study of two cases. Ophthalmology 1990;97:1018–22. 3. Jakobiec FA, Kirzhner M, Tollett MM, et al. Solitary epithelioid histiocytoma (reticulohistiocytoma) of the eyelid. Arch Ophthalmol 2011;129:1502–4. 4. Bakri SJ, Carlson JA, Meyer DR. Recurrent solitary reticulohistiocytoma of the eyelid. Ophthal Plast Reconstr Surg 2003;19:162–4. 5. Eagle RC Jr, Penne RA, Hneleski IS Jr. Eyelid involvement in multicentric reticulohistiocytosis. Ophthalmology 1995;102: 426–30.
© 2014 The American Society of Ophthalmic Plastic and Reconstructive Surgery, Inc.
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Case Reports
6. Suwabe H, Tsutsumi Y. Reticulohistiocytoma involving the skin, subcutaneous tissue and a regional lymph node. Pathol Int 1996;46:531–7. 7. Goette DK, Odom RB, Fitzwater JE, Jr. Diffuse cutaneous reticulohistiocytosis. Arch Dermatol 1982;118:173–6. 8. Favara BE, Feller AC, Pauli M, et al. Contemporary classification of histiocytic disorders. The WHO Committee On Histiocytic/ Reticulum Cell Proliferations. Reclassification Working Group of the Histiocyte Society. Med Pediatr Oncol 1997;29:157–66. 9. Woo KI, Harris GJ. Eosinophilic granuloma of the orbit: understanding the paradox of aggressive destruction responsive to minimal intervention. Ophthal Plast Reconstr Surg 2003;19:429–39. 10. Hoffmann EM, Müller-Forell W, Pitz S, et al. Erdheim-Chester disease: a case report. Graefes Arch Clin Exp Ophthalmol 2004;242:803–7. 11. Alexiev BA, Staats PN. Erdheim-Chester disease with prominent pericardial effusion: cytologic findings and review of the literature. Diagn Cytopathol. [published online ahead of print February 28, 2013] doi: 10.1002/dc.22957. 12. Strehl JD, Stachel KD, Hartmann A, et al. Juvenile xanthogranuloma developing after treatment of Langerhans cell histiocytosis: case report and literature review. Int J Clin Exp Pathol 2012;5:720–5. 13. Pileri SA, Grogan TM, Harris NL, et al. Tumours of histiocytes and accessory dendritic cells: an immunohistochemical approach to classification from the International Lymphoma Study Group based on 61 cases. Histopathology 2002;41:1–29.
Recurrent Orbital Adult-Type Fibrosarcoma in a 3-Year-Old Girl Rehan M. Hussain, M.D.*†, Benjamin P. Erickson, M.D.*, Andrew E. Rosenberg, M.D.‡, Sander R. Dubovy, M.D.*†, and Thomas E. Johnson, M.D.* Abstract: A 3-year-old Filipino girl presented with progressive left-sided ptosis and proptosis after resection of a superomedial orbital tumor 2.5 years ago. She had been followed with serial MRI, which demonstrated interval growth of a recurrent lesion. Repeat resection was undertaken via an eyelid-splitting anterior orbitotomy. The patient’s pediatric oncologist and sarcoma specialist did not recommend adjuvant chemotherapy, and the family declined proton radiotherapy. The patient will continue to be monitored with serial imaging. Histopathology, immunohistochemistry, and reverse transcriptase polymerase chain reaction were most consistent with a diagnosis of adult-type fibrosarcoma. This is the first reported case of adult-type fibrosarcoma presenting in the orbit of a child. Fibrosarcoma is a fibroblast-derived tumor that commonly presents in the extremities, usually in patients in their fourth to sixth decades. It is rarely seen in the orbit, with the largest case series to date only including 5 patients.
underwent partial resection of the mass at that time at an outside institution. She did not receive chemotherapy or radiation therapy and was followed by a pediatric oncologist with serial MRI exams. Her medical history was also notable for hydronephrosis. On examination, the child was able to fixate and follow and did not object to covering of either eye. There was mild left-sided proptosis and ptosis of the left upper eyelid. Extraocular muscle function was difficult to assess due to lack of cooperation. The pupils were round and reactive, with no afferent pupillary defect. The palpebral fissure measurements were 8 and 6 mm in the OD and OS, respectively. The marginal reflex distance 1 (MRD1) measurements were 3 mm in the right eye and 1 mm in the left eye. Levator function and Hertel’s exophthalmometry could not be assessed. The anterior segment and fundus examinations were otherwise unremarkable. A MRI scan performed 3 months prior to presentation showed 2 superior left orbital nodules located between the superior rectus muscle and the levator palpebrae muscle. One nodule was hyperintense (tumor) and the other hypointense (postsurgical scar) on T2-weighted MRI (Fig 1). The tumor had enlarged since her last MRI performed 6 months prior, most recently measuring 11 × 8 mm. The original biopsy demonstrated a hypercellular spindle cell neoplasm containing intersecting long and short fascicles that were focally arranged in cartwheel and herringbone patterns (Fig. 2). There was increased nuclear to cytoplasmic ratio, with up to 5 mitotic figures per high power field (Fig. 3). The tumor was moderately vascular, with foci of hemorrhage and necrosis. Immunohistochemistry showed that the tumor cells stained diffusely and strongly positive for vimentin. There was focal positivity for smooth muscle actin (SMA) and muscle specific actin (MSA), particularly in cells surrounding blood vessels. Stains for CD34, S100, CD99, Pancytokeratin, EMA, desmin, B CL-2, and MyoD1 were predominantly negative in neoplastic cells. Reverse transcription polymerase chain reaction (PCR) was performed on total ribonucleic acid extracted from the paraffin-embedded tumor and was found to be negative for the SYT/synovial sarcoma X fusion transcripts that usually arise
CASE REPORT A 3-year-old Filipino girl presented with progressive left-sided proptosis and ptosis. She had been previously diagnosed with a left orbital tumor at 6 months of age, and she Accepted for publication September 7, 2013. *Bascom Palmer Eye Institute, University of Miami Miller School of Medicine; †Florida Lions Eye Bank; and ‡Department of Pathology, University of Miami Hospital, Miami, Florida, U.S.A. Presented at the Advances in Orbital Oncology and Oculofacial Plastic Surgery, M.D. Anderson Hospital, Houston, Texas, on September 2, 2013. This was project was funded by the Florida Lions Eye Bank and Ocular Pathology Laboratory. The authors have no financial or conflicts of interest to disclose. Address correspondence and reprint requests to Thomas E. Johnson, M.D., 900 NW 17th St., Miami, FL 33136. E-mail: [email protected]
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FIG. 1. T2-weighted MRI shows a hyperintense nodule in the superior left orbit between the superior rectus muscle and the levator palpebrae muscle.
© 2014 The American Society of Ophthalmic Plastic and Reconstructive Surgery, Inc.
bicanalicular stylet. Other reported complications of bicanalicular intubation include punctal or canalicular slitting, granuloma formation, superior loop dislocation, and chronic nasal irritation.1,4–6 In this case, the stylet of the stent was inadvertently implanted in the middle cranial fossa via the superior orbital fissure, narrowly missing critical structures such as the cavernous sinus and carotid artery (Fig. 2). With retrospective consideration, the authors have identified the following points that may prevent such an incident from recurring. First, preoperatively identify which canaliculi are involved. Monocanalicular stents are technically easier to insert and have a reduced risk profile, so may better suit cases with only a single involved canaliculus. Second, intraoperatively identify both ends of the lacerated canaliculus. This may require an operating microscope or loupes. Finally, recognize that the stylet length is significantly longer than the nasolacrimal duct. If the stylet end is not retrieved after introduction of the appropriate length, reassess, and consider endoscopic visualization. In addition to these practical steps, surgeons with less experience with canalicular intubation should have a low threshold for involving an oculoplastic surgeon in such cases. In conclusion, this case demonstrates an unusual but potentially life-threatening complication of bicanalicular stent insertion. Canalicular lacerations are common in the setting of periocular trauma, and successful repair involving canalicular intubation is desired to restore lacrimal anatomy and function. With thorough preoperative assessment, surgical experience, and meticulous repair, such complications may be prevented.
REFERENCES 1. Reifler DM. Management of canalicular laceration. Surv Ophthalmol 1991;36:113–32. 2. Walter WL. The use of the pigtail probe for silicone intubation of the injured canaliculus. Ophthalmic Surg 1982;13:488–92. 3. Neuhaus RW. Silicone intubation of traumatic canalicular lacerations. Ophthal Plast Reconstr Surg 1989;5:256–60. 4. Dresner SC, Codère F, Brownstein S, et al. Lacrimal drainage system inflammatory masses from retained silicone tubing. Am J Ophthalmol 1984;98:609–13. 5. Anderson RL, Edwards JJ. Indications, complications and results with silicone stents. Ophthalmology 1979;86:1474–87. 6. Lauring L. Silicone intubation of the lacrimal system: pitfalls, problems and complications. Ann Ophthalmol 1976;8:489–98.
Case Reports
CASE REPORT A 56-year-old Caucasian woman was referred to for a 1-month history of an enlarging nodule beneath her right upper eyelid. She denied any visual changes. She admitted to feeling pressure and a “twitching” feeling around the nodule. She has no significant past ocular history. Her medical history was significant for removal of a brain aneurysm several years prior and hand reconstructive surgery. Examination showed that her best-corrected visual acuity (BCVA) was 20/20 in OU. Pupils were equal, round, and reactive to light. There was no relative afferent pupillary defect. Hertel measurements at a base of 90 were 16.5 and 15.0 in the OD and OS, respectively. The intraocular pressure (IOP) was 20 mm Hg OU. Slit lamp biomicroscopy showed mild nuclear sclerotic cataracts in OU. There was a palpable mass in the lacrimal fossa along the right upper eyelid with overlying periocular inflammation. A CT scan of the orbits and sella demonstrated an asymmetric prominence of the right lacrimal gland without bony changes (Fig. 1). The patient underwent a right orbitotomy and incisional biopsy without complication. Gross examination of the biopsy specimen revealed a piece of tan tissue measuring 7 × 2 × 2 mm. Microscopic examination showed a mass composed of numerous histiocytes with ground glass cytoplasm (Fig. 2). There were occasional giant cells present, and some of the histiocytes contained vacuolated cytoplasm. Rare lymphocytes were present. Immunohistochemical stains were positive for CD68 and vimentin and negative for CD1a and S100 in the histiocytes. The lymphocytes immunostained for CD3. Based on the histologic appearance and immunohistochemical stains, the diagnosis was reticulohistiocytoma (RH). This study was Health Insurance Portability and Accountability Act compliant at this institution.
Reticulohistiocytoma of the Orbit Heather M. Weissman, M.D.*, Brent R. Hayek, M.D.*, and Hans E. Grossniklaus, M.D.*† Abstract: Reticulohistiocytoma is a rare, benign histiocytic proliferation of the skin or soft tissue. While ocular involvement has been documented in the past, there have been no previously reported cases of reticulohistiocytoma of the orbit. In this report, the authors describe a reticulohistiocytoma of the orbit in a middle-aged woman. Accepted for publication August 21, 2013. From the Departments of *Ophthalmology and †Pathology, Emory University School of Medicine, Atlanta, Georgia, U.S.A. Supported, in part, by NIH P30EY06360 and an unrestricted grant from Research to Prevent Blindness, Inc. The authors have no financial or conflicts of interest to disclose. Address correspondence and reprint requests to Hans E. Grossniklaus M.D., L. F. Montgomery Ophthalmic Pathology Laboratory, Emory Eye Center. BT 428, 1365 Clifton Rd., NE, Atlanta GA 30322. E-mail: [email protected]
FIG. 1. CT of orbits shows a mass in the lacrimal gland area (arrow) demonstrated by the transverse (top) and coronal (bottom) views.
© 2014 The American Society of Ophthalmic Plastic and Reconstructive Surgery, Inc.
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Ophthal Plast Reconstr Surg, Vol. 31, No. 1, 2015
Case Reports
FIG. 2. A, The mass is composed of a diffuse sheet of histiocytes with ground glass cytoplasm. B, The histiocytes contain vesiculated nuclei with prominent nucleoli (arrowhead). C, There are occasional giant cells present (arrow). D, There are intervening bundles of collagen between collections of histiocytes. Immunohistochemical stains are positive for vimentin (E) and CD68 (F) in the histiocytes. A, hematoxylin-eosin, ×100; B, hematoxylin-eosin, ×150; C, periodic acid-Schiff, ×100; D, Masson trichrome, ×100; E, and F, peroxidase anti-peroxidase, ×100.
DISCUSSION RH, also known as solitary epithelioid histiocytoma, is a rare histiocytic proliferation of the skin or soft tissue.1 It is a nonneoplastic entity arising from macrophages rather than dendritic histiocytes. Histologically, RHs are composed of large mononuclear and multinucleated histiocytes with “ground glass” cytoplasm. The histiocytes are surrounded by a mixture of various inflammatory cells2 including granulocytes and T lymphocytes (not B lymphocytes).3 There have been 2 clinicopathologic reports of epibulbar solitary RHs and 2 reports of solitary RHs of the eyelid.3,4 The 2 epibulbar cases were localized to the limbus and cornea without skin involvement.2 RH and multicentric reticulohistiocytosis are 2 diseases that fall under the spectrum of reticulohistiocytosis. RH is an isolated lesion without systemic involvement.2 In contrast, multicentric reticulohistiocytosis is manifest by multiple nodules5 and can be differentiated from solitary RH by its association with systemic disease. Sometimes referred to as “lipoid dermatoarthritis,” patients with multicentric reticulohistiocytosis may have arthropathy,1 and there may be an associated internal malignancy.6 Both entities occur predominantly in adults. Historically, RHs occur in young adults with a slight male
e14
predominance.1 RHs are thought to be nonneoplastic, localized, cytokine-induced collection of histiocytes reacting to an unknown stimulus.1 Goette et al.7 proposed a classification system for reticulohistiocytic lesions that include the following 3 categories: solitary cutaneous RH, multiple cutaneous RHs, and multicentric reticulohistiocytosis. In response to this classification system after 2 cases of ocular reticulohistiocytosis were discovered, Allaire et al.2 proposed a fourth category of solitary noncutaneous RH. This case of RH of the orbit falls in this fourth category of reticulohistiocytic lesions. There are several entities in the differential diagnosis for histiocytic lesions involving the eye and orbit including RosaiDorfman disease, Langerhans cell histiocytosis, juvenile xanthogranuloma, histiocytic sarcoma, and Erdheim-Chester disease (Table). According to the WHO committee and the Histiocyte Society,8 histiocytic lesions are classified according to their cell of origin. The dendritic cell-derived diseases include Langerhans cell histiocytosis, juvenile xanthogranuloma, and solitary histiocytomas of dendritic cell phenotypes. Macrophage-derived diseases include Rosai-Dorfman disease and solitary histiocytoma with the macrophage phenotype. Immunohistochemistry
© 2014 The American Society of Ophthalmic Plastic and Reconstructive Surgery, Inc.
Ophthal Plast Reconstr Surg, Vol. 31, No. 1, 2015
Case Reports
Differential diagnosis of histiocytic lesions1,2,10–13 Disease
Age
Predominant sex
Reticulohistiocytoma (Solitary epithelioid histiocytoma)
Young adults (can occur Male from childhood to adulthood)
Langerhans Cell Histiocytosis
Children
No sex predilection
Rosai-Dorfman Disease
Child/young adults
Male
Juvenile xanthogranuloma
Children/young adults
Male
Histiocytic sarcoma
Middle aged
No sex predilection
Erdheim-Chester disease
Middle aged
No sex predilection
Clinical presentation
Pathology
Solitary skin or soft Large, mononuclear tissue nodule, reports and multinucleated of orbital involvement histiocytes with limited to corneal and “ground glass” limbal involvement appearing cytoplasm admixed with inflammatory cells Clinical variability Histiocytes admixed (small bony lesion to with eosinophils, multisystem disease); lymphocytes, plasma orbital involvement cells and neutrophils. includes lytic defects Langerhans cells in the orbit commonly contain Birbeck found in the sphenoid granules. wing Skin lesions associated Histiocytes with with bilateral, massive, polymorphism with painless cervical pale or eosinophilic lymphadenopathy; cytoplasm and low-grade fever, weight emperipolesis loss, leukocytosis Dermal or subcutaneous Touton-type histiocytic mass (eyelid) cells; numerous eosinophilic granulocytes Skin or soft tissues mass Epithelioid histiocytes with nuclear atypia and mitotic activity Systemic disease with Dense infiltrates of ophthalmic foamy histiocytes, involvement limited lymphocytes, to exophthalmos monocytes, and secondary to Touton giant cells retrobulbar infiltration and xanthelasma-like lesion on the eyelid
has elucidated these histiocytic lesions by highlighting the cell of origin. Macrophages stain positive for lysozyme, CD45, and CD14; Langerhans cells stain positive for CD45, S100, and CD1a; Dendritic cells stain positive for CD45 and S100.8 As mentioned above and shown in Table, RHs exhibit a macrophage, histiocytic immunophenotype and therefore express CD68, CD163, and lysozyme. Rosai-Dorfman disease, otherwise known as sinus histiocytosis with massive lymphadenopathy, is associated with multiple skin nodules and lymphadenopathy. The histiocytes in this disease are nonLangerhans cells and usually S100 positive.1 Langerhans cell histiocytosis is a histiocytic disease that occurs in children and commonly presents as a lytic defect affecting the superotemporal orbit or sphenoid wing.9 In contrast to Rosai-Dorfman disease, Langerhans cell histiocytosis cells bear the Langerhans cell granule (Birbeck granule) and are CD1a and S100 positive. Juvenile xanthogranuloma is an uncommon inflammatory condition that is predominantly found in children2 and classically contain Touton-type histiocytic giant cells with numerous eosinophilic histiocytes.1 The cells in juvenile xanthogranuloma immunostain for CD68 and usually Factor XIIIa; however, they do not contain Birbeck granules. Histiocytic sarcoma is a rare tumor that can present in any tissue. It is composed of epithelioid histiocytes with nuclear atypia and mitotic activity.1 Erdheim-Chester disease is a rare form of histiocytosis characterized by bone, heart, lung, liver, kidney, and brain involvement. It can rarely present with retrobulbar infiltration causing proptosis or xanthelasma-like
Immunohistochemistry CD163, CD68, alpha-1 antitrypsin+
S100, CD1a +
S100, CD68+
CD68, Factor XIIIa+
Lysozyme, KiM8, S100, CD21, CD35+ CD68 +, negative S100 and Cd1a
lesions on the eyelid.10,11 This case was interpreted to represent a solitary RH by its positive staining for CD68, vimentin, alpha-1 antitrypsin and negative staining for CD1a and S100. The case presented above is an unusual case of RH of the orbit. The patient presented has an isolated orbital nodule unassociated with systemic disease. Histopathologically, the lesion was composed of large mononuclear cells, histiocytes with vacuolated cytoplasm, and a few dispersed multinucleated cells. Immunohistochemical stains for CD68 and vimentin along with negative stains for S100 and CD1a confirmed the diagnosis as a RH with a macrophage histiocytic origin. RH should be considered in the differential of a benign, painless orbital lesion.
REFERENCES 1. Miettinen M, Fetsch JF. Reticulohistiocytoma (solitary epithelioid histiocytoma): a clinicopathologic and immunohistochemical study of 44 cases. Am J Surg Pathol 2006;30:521–8. 2. Allaire GS, Hidayat AA, Zimmerman LE, et al. Reticulohistiocytoma of the limbus and cornea. A clinicopathologic study of two cases. Ophthalmology 1990;97:1018–22. 3. Jakobiec FA, Kirzhner M, Tollett MM, et al. Solitary epithelioid histiocytoma (reticulohistiocytoma) of the eyelid. Arch Ophthalmol 2011;129:1502–4. 4. Bakri SJ, Carlson JA, Meyer DR. Recurrent solitary reticulohistiocytoma of the eyelid. Ophthal Plast Reconstr Surg 2003;19:162–4. 5. Eagle RC Jr, Penne RA, Hneleski IS Jr. Eyelid involvement in multicentric reticulohistiocytosis. Ophthalmology 1995;102: 426–30.
© 2014 The American Society of Ophthalmic Plastic and Reconstructive Surgery, Inc.
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Case Reports
6. Suwabe H, Tsutsumi Y. Reticulohistiocytoma involving the skin, subcutaneous tissue and a regional lymph node. Pathol Int 1996;46:531–7. 7. Goette DK, Odom RB, Fitzwater JE, Jr. Diffuse cutaneous reticulohistiocytosis. Arch Dermatol 1982;118:173–6. 8. Favara BE, Feller AC, Pauli M, et al. Contemporary classification of histiocytic disorders. The WHO Committee On Histiocytic/ Reticulum Cell Proliferations. Reclassification Working Group of the Histiocyte Society. Med Pediatr Oncol 1997;29:157–66. 9. Woo KI, Harris GJ. Eosinophilic granuloma of the orbit: understanding the paradox of aggressive destruction responsive to minimal intervention. Ophthal Plast Reconstr Surg 2003;19:429–39. 10. Hoffmann EM, Müller-Forell W, Pitz S, et al. Erdheim-Chester disease: a case report. Graefes Arch Clin Exp Ophthalmol 2004;242:803–7. 11. Alexiev BA, Staats PN. Erdheim-Chester disease with prominent pericardial effusion: cytologic findings and review of the literature. Diagn Cytopathol. [published online ahead of print February 28, 2013] doi: 10.1002/dc.22957. 12. Strehl JD, Stachel KD, Hartmann A, et al. Juvenile xanthogranuloma developing after treatment of Langerhans cell histiocytosis: case report and literature review. Int J Clin Exp Pathol 2012;5:720–5. 13. Pileri SA, Grogan TM, Harris NL, et al. Tumours of histiocytes and accessory dendritic cells: an immunohistochemical approach to classification from the International Lymphoma Study Group based on 61 cases. Histopathology 2002;41:1–29.
Recurrent Orbital Adult-Type Fibrosarcoma in a 3-Year-Old Girl Rehan M. Hussain, M.D.*†, Benjamin P. Erickson, M.D.*, Andrew E. Rosenberg, M.D.‡, Sander R. Dubovy, M.D.*†, and Thomas E. Johnson, M.D.* Abstract: A 3-year-old Filipino girl presented with progressive left-sided ptosis and proptosis after resection of a superomedial orbital tumor 2.5 years ago. She had been followed with serial MRI, which demonstrated interval growth of a recurrent lesion. Repeat resection was undertaken via an eyelid-splitting anterior orbitotomy. The patient’s pediatric oncologist and sarcoma specialist did not recommend adjuvant chemotherapy, and the family declined proton radiotherapy. The patient will continue to be monitored with serial imaging. Histopathology, immunohistochemistry, and reverse transcriptase polymerase chain reaction were most consistent with a diagnosis of adult-type fibrosarcoma. This is the first reported case of adult-type fibrosarcoma presenting in the orbit of a child. Fibrosarcoma is a fibroblast-derived tumor that commonly presents in the extremities, usually in patients in their fourth to sixth decades. It is rarely seen in the orbit, with the largest case series to date only including 5 patients.
underwent partial resection of the mass at that time at an outside institution. She did not receive chemotherapy or radiation therapy and was followed by a pediatric oncologist with serial MRI exams. Her medical history was also notable for hydronephrosis. On examination, the child was able to fixate and follow and did not object to covering of either eye. There was mild left-sided proptosis and ptosis of the left upper eyelid. Extraocular muscle function was difficult to assess due to lack of cooperation. The pupils were round and reactive, with no afferent pupillary defect. The palpebral fissure measurements were 8 and 6 mm in the OD and OS, respectively. The marginal reflex distance 1 (MRD1) measurements were 3 mm in the right eye and 1 mm in the left eye. Levator function and Hertel’s exophthalmometry could not be assessed. The anterior segment and fundus examinations were otherwise unremarkable. A MRI scan performed 3 months prior to presentation showed 2 superior left orbital nodules located between the superior rectus muscle and the levator palpebrae muscle. One nodule was hyperintense (tumor) and the other hypointense (postsurgical scar) on T2-weighted MRI (Fig 1). The tumor had enlarged since her last MRI performed 6 months prior, most recently measuring 11 × 8 mm. The original biopsy demonstrated a hypercellular spindle cell neoplasm containing intersecting long and short fascicles that were focally arranged in cartwheel and herringbone patterns (Fig. 2). There was increased nuclear to cytoplasmic ratio, with up to 5 mitotic figures per high power field (Fig. 3). The tumor was moderately vascular, with foci of hemorrhage and necrosis. Immunohistochemistry showed that the tumor cells stained diffusely and strongly positive for vimentin. There was focal positivity for smooth muscle actin (SMA) and muscle specific actin (MSA), particularly in cells surrounding blood vessels. Stains for CD34, S100, CD99, Pancytokeratin, EMA, desmin, B CL-2, and MyoD1 were predominantly negative in neoplastic cells. Reverse transcription polymerase chain reaction (PCR) was performed on total ribonucleic acid extracted from the paraffin-embedded tumor and was found to be negative for the SYT/synovial sarcoma X fusion transcripts that usually arise
CASE REPORT A 3-year-old Filipino girl presented with progressive left-sided proptosis and ptosis. She had been previously diagnosed with a left orbital tumor at 6 months of age, and she Accepted for publication September 7, 2013. *Bascom Palmer Eye Institute, University of Miami Miller School of Medicine; †Florida Lions Eye Bank; and ‡Department of Pathology, University of Miami Hospital, Miami, Florida, U.S.A. Presented at the Advances in Orbital Oncology and Oculofacial Plastic Surgery, M.D. Anderson Hospital, Houston, Texas, on September 2, 2013. This was project was funded by the Florida Lions Eye Bank and Ocular Pathology Laboratory. The authors have no financial or conflicts of interest to disclose. Address correspondence and reprint requests to Thomas E. Johnson, M.D., 900 NW 17th St., Miami, FL 33136. E-mail: [email protected]
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FIG. 1. T2-weighted MRI shows a hyperintense nodule in the superior left orbit between the superior rectus muscle and the levator palpebrae muscle.
© 2014 The American Society of Ophthalmic Plastic and Reconstructive Surgery, Inc.
