The Journal of Craniofacial Surgery • Volume 26, Number 2, March 2015
Brief Clinical Studies
The acceptable approach to the management of these cases remains controversial, and there exist no uniform strategies.1 Prudent observation is the preferred approach for most cases because any small- or medium-sized orbital cyst can produce orbital expansion. A favorable cosmetic effect can be achieved by prosthesis fitting in cases of unsightly microphthalmos with no visible cyst. Surgical intervention would be required in cases where the prosthesis cannot be fitted to achieve an acceptable cosmetic outcome. Cyst aspiration is an option in cases where a small orbital cyst is present or a high surgical risk exists. The enlarging orbital cyst should be excised with great caution because of the close anatomic relationship between the microphthalmic globe and the orbital cyst. If the microphthalmia is moderate to severe, both the cyst and the globe should be excised and the orbital volume should be replaced.1Our patient presented a remarkable cosmetic problem that resulted in considerable psychologic distress for family members. However, satisfactory clinical and cosmetic outcomes were achieved after the severe microphthalmos, orbital cyst, and huge ocular surface dermolipoma were completely removed, followed by prosthesis fitting.
REFERENCES 1. Chaudhry IA, Arat YO, Shamsi FA, et al. Congenital microphthalmos with orbital cysts: distinct diagnostic features and management. Ophthal Plast Reconstr Surg. 2004;20:452–457 2. Kurbasic M, Jones FV, Cook LN. Bilateral microphthalmos with colobomatous orbital cyst and de-novo balanced translocation t(3;5). Ophthalmic Genet. 2000;21:239–242 3. Guterman C, Abboud E, Mets MB. Microphthalmos with cyst and Edward's syndrome. Am J Ophthalmol. 1990;109:228–230 4. McLean CJ, Ragge NK, Jones RB, et al. The management of orbital cysts associated with congenital microphthalmos and anophthalmos. Br J Ophthalmol. 2003;87:860–863 5. Tucker S, Jones B, Collin JRO. Systemic anomalies in 77 patients with congenital anophthalmos or microphthalmos. Eye. 1996;10:310–314 6. Shields JA, Bakewell B, Augsburger JJ, et al. Classification and incidence of space-occupying lesions of the orbit. a survey of 645 biopsies. Arch Ophthalmol. 1984;102:1606–1611 7. Agrawal PK, Kumar H. Microphthalmos with cyst: a clinical study. Indian J Ophthalmol. 1993;41:177–179
Immunoglobulin G4–Related Disease in the Skull Base Mimicking Nasopharyngeal Carcinoma Jianfeng Liu, MD, PhD,* Binglin Zhang, MD, PhD,† Hongliang Sun, MD,‡ Jun Han, MD, PhD,* Dazhang Yang, MD*
From the Departments of *Otolaryngology, †Pathology, and ‡Radiology, ChinaJapan Friendship Hospital, Beijing, China. Received August 14, 2014. Accepted for publication October 9, 2014. Address correspondence and reprint requests to Dazhang Yang, MD, Department of Otolaryngology, China-Japan Friendship Hospital, 2 Yinghuadong St, Chaoyang, Beijing, China 100029; E-mail: [email protected] The authors report no conflicts of interest. Copyright © 2015 by Mutaz B. Habal, MD ISSN: 1049-2275 DOI: 10.1097/SCS.0000000000001381
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Abstract: Immunoglobulin G4–related disease (IgG4-RD) is a rare clinical condition. Although it has been described in the head and neck region, skull base involvement is exceedingly uncommon. We present a clinical report of a patient with IgG4-RD of the skull base that mimicked nasopharyngeal cancer. This case highlights challenges in the clinical diagnosis of this rare condition. The diagnosis could be made only on histopathologic evaluation, which showed dense fibrosis with lymphoplasmacytic infiltration by IgG4-positive plasma cells. Serum IgG4 level was also elevated. Once IgG4-RD was confirmed, treatment with glucocorticoid yielded a good clinical outcome. Key Words: Immunoglobulin G4–related disease, skull base, nasopharyngeal malignance
I
mmunoglobulin G4–related disease (IgG4-RD) is a recently defined clinical entity, characterized by single or multiple masses involving 1 or multiple organs, tissue infiltration by IgG4-positive plasma cells, tissue fibrosclerosis, and elevated serum IgG4 concentration.1 Immunoglobulin G4–related disease has been shown to involve the head and neck region,2–4 but cases involving the skull base are rare.5,6 We present a case with IgG4-RD in the skull base, which mimicked nasopharyngeal cancer.
CLINICAL REPORT A 71-year-old man presented to our clinic with a 5-month history of hearing loss, ringing in his right ear, and upper neck pain. He had been diagnosed at another institution as having chronic otitis media with effusion and had been treated with antibiotics, mucolytics, and nasal steroids for several weeks. However, his symptoms did not improve, and he was referred to another institution. In that institution, prednisone was administered for 2 weeks, which alleviated the patient's symptoms. Computed tomography (CT) was performed, which revealed a mass originating in the right nasopharynx, which blocked the eustachian tube, resulting in mastoiditis (Fig. 1A). Magnetic resonance imaging (MRI) showed the nasopharyngeal mass with moderate diffuse enhancement on gadolinium diethylene triamine penta acetate–enhanced T1-weighted image. The mass had infiltrated the bone of the skull base and encased the internal carotid artery (Fig. 1B). The patient was admitted to our hospital with a diagnosis of nasopharyngeal tumor. He denied nasal obstruction, rhinorrhea, or vision change. Physical examination revealed swelling of the right external auditory canal, which occluded visualization of the tympanic membrane. Nasal endoscopy showed a bulge of the right tubal torus, with obliteration of the Rosenmuller fossa and obstruction of the orifice of the eustachian tube. A painless mass was palpable in the right side of the upper neck. Laboratory tests such as blood cell count and chemistry were carried out, which showed that the patient had an erythrocyte sedimentation rate of 66 mm/h (reference range,
FIGURE 1. Imaging before (A, B) and 3 months after treatment (C, D). CT scan showed that the nasopharyngeal mass had eroded the bone of the skull base and encased the internal carotid artery (A). MRI revealed the nasopharyngeal mass with moderate diffuse enhancement on T1-weighted images (B). Repeated CT scan and MRI scan with contrast revealed almost complete resolution (C, D).
© 2015 Mutaz B. Habal, MD
Copyright © 2015 Mutaz B. Habal, MD. Unauthorized reproduction of this article is prohibited.
The Journal of Craniofacial Surgery • Volume 26, Number 2, March 2015
0–15) and C-reactive protein level of 2.030 mg/dL (reference range, 40% and >10 IgG4+ plasma cells per high-power field Definite: 1 + 2 + 3 Probable: 1 + 3 Possible: 1 + 2 Umehara et al.7
In our case, the IgG4-related nasopharyngeal mass involved the eustachian tube and extended to the skull base, with bony destruction and encasement of the segment of the carotid artery in the temporal bone. It mimicked nasopharyngeal malignancies such as nasopharyngeal carcinoma. On the basis of the clinical presentation, image scans, histopathologic evaluation, and elevation of serum IgG4, the diagnosis of IgG4-RD was made, and medical therapy with glucocorticoid steroid was administered. The treatment yielded good results. The patient's symptoms disappeared, posttreatment imaging demonstrated significant resolution, and the level of serum IgG4 dropped to a normal level.
CONCLUSIONS Immunoglobulin G4–related disease is an uncommon disease, which can involve the skull base, mimicking common malignancies such as nasopharyngeal carcinoma. The diagnosis is challenging. Once IgG4RD is confirmed on histology, appropriate high-dose steroid treatment yields good clinical result.
REFERENCES 1. Stone JH, Zen Y, Deshpande V. IgG4-related disease. N Engl J Med 2012;366:539–551 2. Moteki H, Yasuo M, Hamano H, et al. IgG4-related chronic rhinosinusitis: a new clinical entity of nasal disease. Acta Otolaryngol 2011;131:518–526 3. Aga M, Kondo S, Yamada K, et al. Warthin's tumor associated with IgG4-related disease. Auris Nasus Larynx 2013;40:514–517 4. Takagi D, Nakamaru Y, Fukuda S. Otologic manifestations of immunoglobulin G4-related disease. Ann Otol Rhinol Laryngol 2014;28:28 5. Alt JA, Whitaker GT, Allan RW, et al. Locally destructive skull base lesion: IgG4-related sclerosing disease. Allergy Rhinol 2012;3:18 6. Cain RB, Colby TV, Balan V, et al. Perplexing lesions of the sinonasal cavity and skull base: IgG4-related and similar inflammatory diseases. Otolaryngol Head Neck Surg 2014;8:8 7. Umehara H, Okazaki K, Masaki Y, et al. Comprehensive diagnostic criteria for IgG4-related disease (IgG4-RD), 2011. Mod Rheumatol 2012;22:21–30 8. Mahajan VS, Mattoo H, Deshpande V, et al. IgG4-related disease. Annu Rev Pathol 2014;9:315–347 9. Pace C, Ward S. A rare case of IgG4-related sclerosing disease of the maxillary sinus associated with bone destruction. J Oral Maxillofac Surg 2010;68:2591–2593 10. Sasaki T, Takahashi K, Mineta M, et al. Immunoglobulin G4-related sclerosing disease mimicking invasive tumor in the nasal cavity and paranasal sinuses. AJNR Am J Neuroradiol 2012;33:5 11. Lu LX, Della-Torre E, Stone JH, et al. IgG4-related hypertrophic pachymeningitis: clinical features, diagnostic criteria, and treatment. JAMA Neurol 2014;14:243
© 2015 Mutaz B. Habal, MD
Copyright © 2015 Mutaz B. Habal, MD. Unauthorized reproduction of this article is prohibited.
e145
Brief Clinical Studies
The acceptable approach to the management of these cases remains controversial, and there exist no uniform strategies.1 Prudent observation is the preferred approach for most cases because any small- or medium-sized orbital cyst can produce orbital expansion. A favorable cosmetic effect can be achieved by prosthesis fitting in cases of unsightly microphthalmos with no visible cyst. Surgical intervention would be required in cases where the prosthesis cannot be fitted to achieve an acceptable cosmetic outcome. Cyst aspiration is an option in cases where a small orbital cyst is present or a high surgical risk exists. The enlarging orbital cyst should be excised with great caution because of the close anatomic relationship between the microphthalmic globe and the orbital cyst. If the microphthalmia is moderate to severe, both the cyst and the globe should be excised and the orbital volume should be replaced.1Our patient presented a remarkable cosmetic problem that resulted in considerable psychologic distress for family members. However, satisfactory clinical and cosmetic outcomes were achieved after the severe microphthalmos, orbital cyst, and huge ocular surface dermolipoma were completely removed, followed by prosthesis fitting.
REFERENCES 1. Chaudhry IA, Arat YO, Shamsi FA, et al. Congenital microphthalmos with orbital cysts: distinct diagnostic features and management. Ophthal Plast Reconstr Surg. 2004;20:452–457 2. Kurbasic M, Jones FV, Cook LN. Bilateral microphthalmos with colobomatous orbital cyst and de-novo balanced translocation t(3;5). Ophthalmic Genet. 2000;21:239–242 3. Guterman C, Abboud E, Mets MB. Microphthalmos with cyst and Edward's syndrome. Am J Ophthalmol. 1990;109:228–230 4. McLean CJ, Ragge NK, Jones RB, et al. The management of orbital cysts associated with congenital microphthalmos and anophthalmos. Br J Ophthalmol. 2003;87:860–863 5. Tucker S, Jones B, Collin JRO. Systemic anomalies in 77 patients with congenital anophthalmos or microphthalmos. Eye. 1996;10:310–314 6. Shields JA, Bakewell B, Augsburger JJ, et al. Classification and incidence of space-occupying lesions of the orbit. a survey of 645 biopsies. Arch Ophthalmol. 1984;102:1606–1611 7. Agrawal PK, Kumar H. Microphthalmos with cyst: a clinical study. Indian J Ophthalmol. 1993;41:177–179
Immunoglobulin G4–Related Disease in the Skull Base Mimicking Nasopharyngeal Carcinoma Jianfeng Liu, MD, PhD,* Binglin Zhang, MD, PhD,† Hongliang Sun, MD,‡ Jun Han, MD, PhD,* Dazhang Yang, MD*
From the Departments of *Otolaryngology, †Pathology, and ‡Radiology, ChinaJapan Friendship Hospital, Beijing, China. Received August 14, 2014. Accepted for publication October 9, 2014. Address correspondence and reprint requests to Dazhang Yang, MD, Department of Otolaryngology, China-Japan Friendship Hospital, 2 Yinghuadong St, Chaoyang, Beijing, China 100029; E-mail: [email protected] The authors report no conflicts of interest. Copyright © 2015 by Mutaz B. Habal, MD ISSN: 1049-2275 DOI: 10.1097/SCS.0000000000001381
e144
Abstract: Immunoglobulin G4–related disease (IgG4-RD) is a rare clinical condition. Although it has been described in the head and neck region, skull base involvement is exceedingly uncommon. We present a clinical report of a patient with IgG4-RD of the skull base that mimicked nasopharyngeal cancer. This case highlights challenges in the clinical diagnosis of this rare condition. The diagnosis could be made only on histopathologic evaluation, which showed dense fibrosis with lymphoplasmacytic infiltration by IgG4-positive plasma cells. Serum IgG4 level was also elevated. Once IgG4-RD was confirmed, treatment with glucocorticoid yielded a good clinical outcome. Key Words: Immunoglobulin G4–related disease, skull base, nasopharyngeal malignance
I
mmunoglobulin G4–related disease (IgG4-RD) is a recently defined clinical entity, characterized by single or multiple masses involving 1 or multiple organs, tissue infiltration by IgG4-positive plasma cells, tissue fibrosclerosis, and elevated serum IgG4 concentration.1 Immunoglobulin G4–related disease has been shown to involve the head and neck region,2–4 but cases involving the skull base are rare.5,6 We present a case with IgG4-RD in the skull base, which mimicked nasopharyngeal cancer.
CLINICAL REPORT A 71-year-old man presented to our clinic with a 5-month history of hearing loss, ringing in his right ear, and upper neck pain. He had been diagnosed at another institution as having chronic otitis media with effusion and had been treated with antibiotics, mucolytics, and nasal steroids for several weeks. However, his symptoms did not improve, and he was referred to another institution. In that institution, prednisone was administered for 2 weeks, which alleviated the patient's symptoms. Computed tomography (CT) was performed, which revealed a mass originating in the right nasopharynx, which blocked the eustachian tube, resulting in mastoiditis (Fig. 1A). Magnetic resonance imaging (MRI) showed the nasopharyngeal mass with moderate diffuse enhancement on gadolinium diethylene triamine penta acetate–enhanced T1-weighted image. The mass had infiltrated the bone of the skull base and encased the internal carotid artery (Fig. 1B). The patient was admitted to our hospital with a diagnosis of nasopharyngeal tumor. He denied nasal obstruction, rhinorrhea, or vision change. Physical examination revealed swelling of the right external auditory canal, which occluded visualization of the tympanic membrane. Nasal endoscopy showed a bulge of the right tubal torus, with obliteration of the Rosenmuller fossa and obstruction of the orifice of the eustachian tube. A painless mass was palpable in the right side of the upper neck. Laboratory tests such as blood cell count and chemistry were carried out, which showed that the patient had an erythrocyte sedimentation rate of 66 mm/h (reference range,
FIGURE 1. Imaging before (A, B) and 3 months after treatment (C, D). CT scan showed that the nasopharyngeal mass had eroded the bone of the skull base and encased the internal carotid artery (A). MRI revealed the nasopharyngeal mass with moderate diffuse enhancement on T1-weighted images (B). Repeated CT scan and MRI scan with contrast revealed almost complete resolution (C, D).
© 2015 Mutaz B. Habal, MD
Copyright © 2015 Mutaz B. Habal, MD. Unauthorized reproduction of this article is prohibited.
The Journal of Craniofacial Surgery • Volume 26, Number 2, March 2015
0–15) and C-reactive protein level of 2.030 mg/dL (reference range, 40% and >10 IgG4+ plasma cells per high-power field Definite: 1 + 2 + 3 Probable: 1 + 3 Possible: 1 + 2 Umehara et al.7
In our case, the IgG4-related nasopharyngeal mass involved the eustachian tube and extended to the skull base, with bony destruction and encasement of the segment of the carotid artery in the temporal bone. It mimicked nasopharyngeal malignancies such as nasopharyngeal carcinoma. On the basis of the clinical presentation, image scans, histopathologic evaluation, and elevation of serum IgG4, the diagnosis of IgG4-RD was made, and medical therapy with glucocorticoid steroid was administered. The treatment yielded good results. The patient's symptoms disappeared, posttreatment imaging demonstrated significant resolution, and the level of serum IgG4 dropped to a normal level.
CONCLUSIONS Immunoglobulin G4–related disease is an uncommon disease, which can involve the skull base, mimicking common malignancies such as nasopharyngeal carcinoma. The diagnosis is challenging. Once IgG4RD is confirmed on histology, appropriate high-dose steroid treatment yields good clinical result.
REFERENCES 1. Stone JH, Zen Y, Deshpande V. IgG4-related disease. N Engl J Med 2012;366:539–551 2. Moteki H, Yasuo M, Hamano H, et al. IgG4-related chronic rhinosinusitis: a new clinical entity of nasal disease. Acta Otolaryngol 2011;131:518–526 3. Aga M, Kondo S, Yamada K, et al. Warthin's tumor associated with IgG4-related disease. Auris Nasus Larynx 2013;40:514–517 4. Takagi D, Nakamaru Y, Fukuda S. Otologic manifestations of immunoglobulin G4-related disease. Ann Otol Rhinol Laryngol 2014;28:28 5. Alt JA, Whitaker GT, Allan RW, et al. Locally destructive skull base lesion: IgG4-related sclerosing disease. Allergy Rhinol 2012;3:18 6. Cain RB, Colby TV, Balan V, et al. Perplexing lesions of the sinonasal cavity and skull base: IgG4-related and similar inflammatory diseases. Otolaryngol Head Neck Surg 2014;8:8 7. Umehara H, Okazaki K, Masaki Y, et al. Comprehensive diagnostic criteria for IgG4-related disease (IgG4-RD), 2011. Mod Rheumatol 2012;22:21–30 8. Mahajan VS, Mattoo H, Deshpande V, et al. IgG4-related disease. Annu Rev Pathol 2014;9:315–347 9. Pace C, Ward S. A rare case of IgG4-related sclerosing disease of the maxillary sinus associated with bone destruction. J Oral Maxillofac Surg 2010;68:2591–2593 10. Sasaki T, Takahashi K, Mineta M, et al. Immunoglobulin G4-related sclerosing disease mimicking invasive tumor in the nasal cavity and paranasal sinuses. AJNR Am J Neuroradiol 2012;33:5 11. Lu LX, Della-Torre E, Stone JH, et al. IgG4-related hypertrophic pachymeningitis: clinical features, diagnostic criteria, and treatment. JAMA Neurol 2014;14:243
© 2015 Mutaz B. Habal, MD
Copyright © 2015 Mutaz B. Habal, MD. Unauthorized reproduction of this article is prohibited.
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