Orbit, 2014; 33(3): 196–198 ! Informa Healthcare USA, Inc. ISSN: 0167-6830 print / 1744-5108 online DOI: 10.3109/01676830.2013.871299
C ASE REPORT
Orbital Involvement in Systemic Mastocytosis Manju Meena1, Ross Benger2, Irina Karnaukhvoa3, Dale Waring4, and Yi-Chiao Li1 1
Oculoplastic Unit, Department of Ophthalmology, Sydney Hospital and Sydney Eye Hospital, Macquarie Street, Sydney, NSW, Australia, 2Sydney Eye Hospital, Sydney University, Australian School of Advanced Medicine, Macquarie University, Sydney, NSW, Australia, 3Save Sight Institute, Sydney, NSW, Australia, and 4 South Eastern Area Laboratory Services, Prince of Wales Hospital, Sydney, NSW, Australia
ABSTRACT A 61-year-old female presented with a 3-day history of painful and reddened right eye with painful ocular movements. She had been diagnosed as having systemic mastocytosis 4 years earlier. Ocular examination showed Best Corrected Visual acuity of 6/6 right eye and 6/6 left eye. There was marked conjunctival injection and chemosis. The posterior segment was normal. The left eye was normal. Exophthalmometry showed 2 mm of right proptosis relative to the left eye. Computed tomography (CT) scans showed an ill-defined intra-conal lesion and enlargement of the lacrimal gland in the right orbit. A diagnostic biopsy was performed; the histopathology findings were of orbital mastocytosis. We present what our literature search suggests is the first biopsy-proven case of orbital mastocytosis. Keywords: Computed, diagnostic, exophthalmometry, mastocytosis, tomography
INTRODUCTION
systemic mastocytosis 4 years earlier, and being treated with Fexofenadine hydrochloride and Ranitidine tablets. On examination her visual acuity in right eye was 6/12, improving to 6/6 with a pinhole and 6/6 unaided in left eye. In the right eye there was severe conjunctival injection and chemosis and the posterior segment was normal. There was no RAPD. The left eye was normal. Extraocular movements were normal, and there was no diplopia. Exophthamlometry showed 2 mm proptosis on the right side. The right inferior orbital rim was tender on palpation. Orbital CT scanning showed an ill-defined intraconal lesion in the right orbit, extending into the retrobulbar space and lying inferotemporal to the optic nerve (Figure 1a and 1b). The right lacrimal gland was enlarged. The remainder of orbital structures appeared normal. A differential diagnosis of Wegner’s granulomatosis, lymphoma, idiopathic orbital inflammation and mastocytosis was made. Incisional biopsies from the right lacrimal gland and inferotemporal orbital tissue were taken.
Mastocytosis is characterized by the presence of an excessive number of tissue mast cells, with symptoms related to mast cell mediator release.1 Involvement of the orbit in systemic mastocytosis is rare with only two presumed cases previously reported.1,2 We present a biopsy-proven case of orbital mastocytosis in a female patient.
CASE REPORT A 61-year-old Caucasian woman presented with a 3-day history of pain and redness in her right eye associated with painful ocular movements. There was a history of multiple episodes of anaphylactic reactions to some drugs. Her previous systemic work-up records showed the involved of liver on ultrasound scan. The bone marrow biopsy was positive for mast cells infiltration. The dermatological history revealed the cutaneous involvement by mast cells. Based on these findings, she had been diagnosed as having
Received 20 September 2013; Revised 14 November 2013; Accepted 26 November 2013; Published online 7 January 2014 Correspondence: Manju Meena, Oculoplastic Unit, Department of Ophthalmology, Sydney Eye Hospital, 8 Macquarie St., Sydney NSW 2000, Australia. Tel: +61–424572060. E-mail: [email protected]
196
Orbital Mastocytosis The lacrimal gland showed mild lymphoplasmacytic infiltrates. Very occasional mast cells were seen in both the lacrimal gland and adjacent tissue, whilst the inferotemporal adipose tissue contained a minimal number of mast cells (Figure 2a and 2b). There was no evidence of any malignancy.
197
The flow cytometry was negative for lymphoma. The histopathological diagnosis was of orbital mastocytosis. The patient responded well to systemic steroid and anti-histamine medications and there was complete resolution of orbital symptoms at 6 weeks follow-up visit.
COMMENT
FIGURE 1. (a) The clinical picture of the patient shows periocular edema and conjunctival congestion in the right eye; (b) Orbital CT (Coronal view) scan showing an ill-defined intraconal lesion in the right orbit (red arrow), extending into the retrobulbar space and lying inferotemporal to the optic nerve.
We present a 61-year-old Caucasian woman with a right orbital lesion of acute onset. A clinical/radiological differential diagnosis of Wegner’s granulomatosis, lymphoma, idiopathic orbital inflammation and mastocytosis was made. Although our patient had a history of systemic mastocytosis, we still performed the orbital biopsy to confirm a tissue diagnosis, and thereby provide for definitive rather than empirical treatment. Mastocytosis is an indolent disease which is characterized by an excessive number of tissue mast cells.3 The current classification system divides the mast cell disorders into four categories.4 Our patient belongs to category 2 which includes Mastocytosis (systemic mastocytosis, cutaneous mastocytosis, mastocytoma, and mast cell sarcoma). Systemic mastocytosis is a myeloproliferative disorder characterized by accumulation of abnormal mast cells in one or more organs, primarily skin, bone marrow, liver, spleen, and lymph nodes.5 Mastocytosis is rare in both adults and children and occurs in less than 0.01% of the population.6 Clinical presentation of mastocytosis range from disseminated maculopapular skin lesions (urticaria pigmentosa) that may spontaneously regress to highly aggressive neoplasms such as mast cell sarcoma. The pathogenesis is believed to be related to mutation in Kit, the mast cell receptor for stem cell factor.7
FIGURE 2. (a) Histopathology of the inferotemporal orbital adipose tissue shows mast cell infiltration (black arrow) (Hematoxylin & Eosin, 400); (b) The metachromatic staining of the mast cell granules (red arrow) (May-Gru¨nwald Giemsa 200). !
2014 Informa Healthcare USA, Inc.
198 Meena et al. Therapy for mastocytosis includes avoidance of trigger factors, targeting the symptoms of mast cell mediator release, and therapy of skin lesions.8 Our patient was treated with systemic steroid and antihistamine and she responded well to the treatment. The clinical findings in our patient have not to our knowledge been reported earlier. The ophthalmic literature includes four case reports on ophthalmic involvement in mastocytosis. Scheck et al.9 reported a case of an eyelid nodule present from birth in a 4-month-old child; histopathology revealed mastocytoma. Jacoby and Wesley10 reported the occurrence of painful nodule in an anophthalmic socket in a 15-year-old girl. Although the socket nodule biopsy did not reveal mastocytosis, detailed systemic examination confirmed the diagnosis of mastocytosis. Fine et al.1 reported a case of presumed orbital and choroidal mastocytosis in a 42-year-old man. However, the authors did not perform a biopsy and the diagnosis was presumed on the basis of the systemic history of mastocytosis. Naysan et al.2 reported a case of presumed solitary mastocytoma of the lower eyelid in a young otherwise healthy child. Our patient was known to have systemic mastocytosis and been on treatment for this for 4 years. We performed the diagnostic biopsy in order to confirm our suspicion, and also to rule out the other possible and more aggressive conditions included in our differential diagnosis. Whilst the orbital mastocytosis occurred in a known case of category 2 mastocytosis, we still wished to have a tissue diagnosis before starting treatment.
DECLARATION OF INTEREST The authors report no conflicts of interest.
REFERENCES 1. Fine HF, Akin C, Hematti P, et al. Presumed choroidal and orbital mastocytosis. Arch Ophthalmol 2001; 119(11):1716–1719. 2. Naysan J, Kodsi SR, Kristal L. Solitary mastocytoma of the eyelid. J AAPOS 2013;17(4):443–444. 3. Horan RF, Austen KF. Systemic mastocytosis: retrospective review of a decade’s clinical experience at the Brigham and Women’s hospital. J Invest Dermatol 1991;96: 58–138. 4. Valent P, Akin C, Arock M, et al. Definitions, criteria and global classification of mast cell disorders with special reference to mast cell activation syndromes: a consensus proposal. Int Arch Allergy Immunol 2012;157(3): 215–225. 5. Valent P, Akin C, Escribano L, et al. Standards and recommendations and response criteria. Eur J Clin Invest 2007;37:435–453. 6. Neidoszytko M, Jassem E, Kruszewski J. Mastocytoza: rozpoznanie i leczenie. Bialystok: Benkowski 2007;23. 7. Metcalfe DD. Mast cells and mastocytosis. Blood 2008; 112(4):946–956. 8. Brockow K, Metcalfe DD. Mastocytocytosis. Chem Immunol Allergy 2010;95:110–124. 9. Scheck O, Horny HP, Ruck P, et al. Solitary mastocytoma of the eyelid. A case report with special reference to the immunocytology of human tissue mast cells, and a review of the literature. Virchows Arch A Pathol Anat Histopathol 1987;412(1):31–36. 10. Jacoby BG, Wesley RE. Painful orbital inflammatory lesions and mastocytosis. Ann Ophthalmol 1987;19(4): 146–147, 149.
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
Orbital Involvement in Systemic Mastocytosis Manju Meena1, Ross Benger2, Irina Karnaukhvoa3, Dale Waring4, and Yi-Chiao Li1 1
Oculoplastic Unit, Department of Ophthalmology, Sydney Hospital and Sydney Eye Hospital, Macquarie Street, Sydney, NSW, Australia, 2Sydney Eye Hospital, Sydney University, Australian School of Advanced Medicine, Macquarie University, Sydney, NSW, Australia, 3Save Sight Institute, Sydney, NSW, Australia, and 4 South Eastern Area Laboratory Services, Prince of Wales Hospital, Sydney, NSW, Australia
ABSTRACT A 61-year-old female presented with a 3-day history of painful and reddened right eye with painful ocular movements. She had been diagnosed as having systemic mastocytosis 4 years earlier. Ocular examination showed Best Corrected Visual acuity of 6/6 right eye and 6/6 left eye. There was marked conjunctival injection and chemosis. The posterior segment was normal. The left eye was normal. Exophthalmometry showed 2 mm of right proptosis relative to the left eye. Computed tomography (CT) scans showed an ill-defined intra-conal lesion and enlargement of the lacrimal gland in the right orbit. A diagnostic biopsy was performed; the histopathology findings were of orbital mastocytosis. We present what our literature search suggests is the first biopsy-proven case of orbital mastocytosis. Keywords: Computed, diagnostic, exophthalmometry, mastocytosis, tomography
INTRODUCTION
systemic mastocytosis 4 years earlier, and being treated with Fexofenadine hydrochloride and Ranitidine tablets. On examination her visual acuity in right eye was 6/12, improving to 6/6 with a pinhole and 6/6 unaided in left eye. In the right eye there was severe conjunctival injection and chemosis and the posterior segment was normal. There was no RAPD. The left eye was normal. Extraocular movements were normal, and there was no diplopia. Exophthamlometry showed 2 mm proptosis on the right side. The right inferior orbital rim was tender on palpation. Orbital CT scanning showed an ill-defined intraconal lesion in the right orbit, extending into the retrobulbar space and lying inferotemporal to the optic nerve (Figure 1a and 1b). The right lacrimal gland was enlarged. The remainder of orbital structures appeared normal. A differential diagnosis of Wegner’s granulomatosis, lymphoma, idiopathic orbital inflammation and mastocytosis was made. Incisional biopsies from the right lacrimal gland and inferotemporal orbital tissue were taken.
Mastocytosis is characterized by the presence of an excessive number of tissue mast cells, with symptoms related to mast cell mediator release.1 Involvement of the orbit in systemic mastocytosis is rare with only two presumed cases previously reported.1,2 We present a biopsy-proven case of orbital mastocytosis in a female patient.
CASE REPORT A 61-year-old Caucasian woman presented with a 3-day history of pain and redness in her right eye associated with painful ocular movements. There was a history of multiple episodes of anaphylactic reactions to some drugs. Her previous systemic work-up records showed the involved of liver on ultrasound scan. The bone marrow biopsy was positive for mast cells infiltration. The dermatological history revealed the cutaneous involvement by mast cells. Based on these findings, she had been diagnosed as having
Received 20 September 2013; Revised 14 November 2013; Accepted 26 November 2013; Published online 7 January 2014 Correspondence: Manju Meena, Oculoplastic Unit, Department of Ophthalmology, Sydney Eye Hospital, 8 Macquarie St., Sydney NSW 2000, Australia. Tel: +61–424572060. E-mail: [email protected]
196
Orbital Mastocytosis The lacrimal gland showed mild lymphoplasmacytic infiltrates. Very occasional mast cells were seen in both the lacrimal gland and adjacent tissue, whilst the inferotemporal adipose tissue contained a minimal number of mast cells (Figure 2a and 2b). There was no evidence of any malignancy.
197
The flow cytometry was negative for lymphoma. The histopathological diagnosis was of orbital mastocytosis. The patient responded well to systemic steroid and anti-histamine medications and there was complete resolution of orbital symptoms at 6 weeks follow-up visit.
COMMENT
FIGURE 1. (a) The clinical picture of the patient shows periocular edema and conjunctival congestion in the right eye; (b) Orbital CT (Coronal view) scan showing an ill-defined intraconal lesion in the right orbit (red arrow), extending into the retrobulbar space and lying inferotemporal to the optic nerve.
We present a 61-year-old Caucasian woman with a right orbital lesion of acute onset. A clinical/radiological differential diagnosis of Wegner’s granulomatosis, lymphoma, idiopathic orbital inflammation and mastocytosis was made. Although our patient had a history of systemic mastocytosis, we still performed the orbital biopsy to confirm a tissue diagnosis, and thereby provide for definitive rather than empirical treatment. Mastocytosis is an indolent disease which is characterized by an excessive number of tissue mast cells.3 The current classification system divides the mast cell disorders into four categories.4 Our patient belongs to category 2 which includes Mastocytosis (systemic mastocytosis, cutaneous mastocytosis, mastocytoma, and mast cell sarcoma). Systemic mastocytosis is a myeloproliferative disorder characterized by accumulation of abnormal mast cells in one or more organs, primarily skin, bone marrow, liver, spleen, and lymph nodes.5 Mastocytosis is rare in both adults and children and occurs in less than 0.01% of the population.6 Clinical presentation of mastocytosis range from disseminated maculopapular skin lesions (urticaria pigmentosa) that may spontaneously regress to highly aggressive neoplasms such as mast cell sarcoma. The pathogenesis is believed to be related to mutation in Kit, the mast cell receptor for stem cell factor.7
FIGURE 2. (a) Histopathology of the inferotemporal orbital adipose tissue shows mast cell infiltration (black arrow) (Hematoxylin & Eosin, 400); (b) The metachromatic staining of the mast cell granules (red arrow) (May-Gru¨nwald Giemsa 200). !
2014 Informa Healthcare USA, Inc.
198 Meena et al. Therapy for mastocytosis includes avoidance of trigger factors, targeting the symptoms of mast cell mediator release, and therapy of skin lesions.8 Our patient was treated with systemic steroid and antihistamine and she responded well to the treatment. The clinical findings in our patient have not to our knowledge been reported earlier. The ophthalmic literature includes four case reports on ophthalmic involvement in mastocytosis. Scheck et al.9 reported a case of an eyelid nodule present from birth in a 4-month-old child; histopathology revealed mastocytoma. Jacoby and Wesley10 reported the occurrence of painful nodule in an anophthalmic socket in a 15-year-old girl. Although the socket nodule biopsy did not reveal mastocytosis, detailed systemic examination confirmed the diagnosis of mastocytosis. Fine et al.1 reported a case of presumed orbital and choroidal mastocytosis in a 42-year-old man. However, the authors did not perform a biopsy and the diagnosis was presumed on the basis of the systemic history of mastocytosis. Naysan et al.2 reported a case of presumed solitary mastocytoma of the lower eyelid in a young otherwise healthy child. Our patient was known to have systemic mastocytosis and been on treatment for this for 4 years. We performed the diagnostic biopsy in order to confirm our suspicion, and also to rule out the other possible and more aggressive conditions included in our differential diagnosis. Whilst the orbital mastocytosis occurred in a known case of category 2 mastocytosis, we still wished to have a tissue diagnosis before starting treatment.
DECLARATION OF INTEREST The authors report no conflicts of interest.
REFERENCES 1. Fine HF, Akin C, Hematti P, et al. Presumed choroidal and orbital mastocytosis. Arch Ophthalmol 2001; 119(11):1716–1719. 2. Naysan J, Kodsi SR, Kristal L. Solitary mastocytoma of the eyelid. J AAPOS 2013;17(4):443–444. 3. Horan RF, Austen KF. Systemic mastocytosis: retrospective review of a decade’s clinical experience at the Brigham and Women’s hospital. J Invest Dermatol 1991;96: 58–138. 4. Valent P, Akin C, Arock M, et al. Definitions, criteria and global classification of mast cell disorders with special reference to mast cell activation syndromes: a consensus proposal. Int Arch Allergy Immunol 2012;157(3): 215–225. 5. Valent P, Akin C, Escribano L, et al. Standards and recommendations and response criteria. Eur J Clin Invest 2007;37:435–453. 6. Neidoszytko M, Jassem E, Kruszewski J. Mastocytoza: rozpoznanie i leczenie. Bialystok: Benkowski 2007;23. 7. Metcalfe DD. Mast cells and mastocytosis. Blood 2008; 112(4):946–956. 8. Brockow K, Metcalfe DD. Mastocytocytosis. Chem Immunol Allergy 2010;95:110–124. 9. Scheck O, Horny HP, Ruck P, et al. Solitary mastocytoma of the eyelid. A case report with special reference to the immunocytology of human tissue mast cells, and a review of the literature. Virchows Arch A Pathol Anat Histopathol 1987;412(1):31–36. 10. Jacoby BG, Wesley RE. Painful orbital inflammatory lesions and mastocytosis. Ann Ophthalmol 1987;19(4): 146–147, 149.
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.
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