Otology & Neurotology 37:e189–e191 ß 2015, Otology & Neurotology, Inc.
Imaging Case of the Month
Rosai-Dorfman Disease Involving the Ear and Lateral Skull Base Diana G. Douleh, Matthew L. Carlson, yElizabeth B. Rinker, and David S. Haynes Department of Otolaryngology–Head and Neck Surgery; and yPathology, Microbiology, and Immunology, Vanderbilt University, Nashville, Tennessee
Rosai-Dorfman disease (RDD), also known as sinus histiocytosis with massive lymphadenopathy, is a rare idiopathic disorder characterized by benign histiocytic proliferation, first described in 1969 (1). Although there is no correlation with ethnicity or gender, the disease primarily affects children and young adults, with the typical presentation characterized by cervical lymphadenopathy often accompanied by fever and elevated erythrocyte sedimentation rate (1). Extranodal involvement is also possible, occurring either with accompanying lymphadenopathy or exclusively. The course of disease is variable, with most patients experiencing spontaneous remission, although recurring disease and a more aggressive course can also be observed (1). In cases of extranodal disease, head and neck manifestations are of highest prevalence, with nasal cavity and paranasal sinus involvement being most common (1,2). Extranodal disease is more likely to be chronic and relapsing, carrying a poorer prognosis (3). Middle ear involvement is extremely rare, with only one welldescribed case in the literature. We present the case of a patient presenting with bloody otorrhea and otalgia manifesting from an isolated extranodal RDD tumor originating from the middle ear.
erosive process involving the left mastoid and middle ear, prompting incisional biopsy. Permanent section pathology confirmed the diagnosis of RDD, and the patient underwent a canal wall-down tympanomastoidectomy with subtotal resection. During the course of the next 5 years, the patient received a total of six separate debulking procedures with laser; however, despite aggressive surgical treatment and frequent ototopic antibiotic therapy, the patient suffered from chronic bloody otorrhea and otalgia with disequilibrium, prompting referral to the authors’ center. On examination, a soft fleshy mass was seen filling the ear canal (Fig. 1), and magnetic resonance imaging (MRI) demonstrated a large lesion occupying the entire tympanomastoid cavity with invasion of the otic capsule, internal auditory canal, and
CASE PRESENTATION A 39-year-old diabetic woman presented to an outside facility with pain and bleeding from the left external ear. Physical examination revealed an ulcerated firm mass occupying the external auditory canal (EAC), and a preliminary diagnosis of necrotizing otitis externa was made. Imaging was obtained that revealed an extensive Address correspondence and reprint requests to David S. Haynes, M.D., Department of Otolaryngology–Head and Neck Surgery, The Bill Wilkerson Center for Otolaryngology and Communication Sciences, 7209 Medical Center East, South Tower, 1215 21st Ave South, Nashville, TN, U.S.A.; E-mail: [email protected] The authors disclose no conflicts of interest. IRB approval 131789
FIG. 1. Left ear after canal wall-down tympanomastoidectomy. A pink soft tissue mass can be seen filling the middle ear and mastoid cavity, protruding from the meatus.
e189
Copyright © 2016 Otology & Neurotology, Inc. Unauthorized reproduction of this article is prohibited.
e190
D. G. DOULEH ET AL.
FIG. 2. Contrast-enhanced axial (A) and coronal (B) T1-weighted MRI sequences demonstrating an infiltrative enhancing left temporal bone mass (white arrows) with middle and posterior fossa invasion.
across 10 fractions, and four cycles of cladribine, there was a marked reduction in tumor size with resolution of bleeding and pain (Fig. 4). She has now been followed for more than 6 years without evidence of local recurrence. DISCUSSION
FIG. 3. An immunohistochemical stain for CD68 highlights increased numbers of large histiocytes. Emperipolesis, a lymphocyte seen within the cytoplasm of a CD68þ histiocyte, can be seen (black arrow) (S10–26420 R-D 100 ).
middle and posterior fossa dura (Fig. 2). Audiometric evaluation confirmed profound ipsilateral sensorineural hearing loss. A review of outside pathology confirmed the diagnosis of RDD (Fig. 3). A multidisciplinary team evaluated the patient and, given the extensive and refractory nature of the patient’s disease, a trial of low-dose fractionated radiation with adjuvant chemotherapy was recommended. After a total dose of 20 Gy, administered
In 2001, Ahsan et al. (4) described a case of RDD involving the bilateral middle ears and EACs with concurrent obstructive tracheobronchial lesions in a patient initially diagnosed as having hearing loss and asthma. In this case, the diagnosis of RDD required several biopsies, illustrating the challenge of achieving a diagnosis in the absence of lymphadenopathy. Laser excision of airway disease was performed given symptoms of obstruction; however, the ear lesions were observed. Given the possibility of spontaneous regression, the authors recommended intervention only in cases of aggressive disease, functional obstruction, or for correction of cosmetic deformity (4). MRI of paranasal sinus and intracranial RDD typically reveals an isointense mass on both T1- and T2-weighted imaging that avidly enhances with gadolinium. Intracranial lesions frequently exhibit dural attachments that mimic meningioma. Finally, computed tomography commonly reveals a hyperdense mass to gray matter with variable degrees of surrounding bony erosion (5). The nonspecific radiologic features of RDD combined with the rare disease prevalence underscores the need for
FIG. 4. Axial (A) and coronal (B) T1-weighted MRI with contrast demonstrating a significant reduction in tumor volume (white arrows) 41 months after treatment with radiation therapy and 1 month after completing chemotherapy. Otology & Neurotology, Vol. 37, No. 6, 2016
Copyright © 2016 Otology & Neurotology, Inc. Unauthorized reproduction of this article is prohibited.
ROSAI-DORFMAN DISEASE OF THE EAR biopsy to confirm diagnosis. The histopathologic hallmark of RDD is the engulfment of lymphocytes by large histiocytes, a phenomenon termed emperipolesis (1). Although there is currently no standard treatment for RDD, options include surgery, radiotherapy, chemotherapy, and observation (4). RDD, although a rare disease entity, should be considered in the differential diagnosis for patients presenting with isolated middle ear and EAC lesions. Careful review of imaging and a low threshold for biopsy are warranted to ensure correct diagnosis and avoid unnecessary risks of resection or mismanagement. Longterm follow-up is necessary given the possibility of local recurrence after intervention or spontaneous regression.
e191 REFERENCES
1. Gaitonde S. Multifocal, extranodal sinus histiocytosis with massive lymphadenopathy: an overview. Arch Pathol Lab Med 2007;131: 1117–21. 2. Bist SS, Bisht M, Varshney S, Kishore S, Rosai-Dorfman disease. Ear Nose Throat J 2008;87:16–7. 3. Geara AR, Ayoubi MA, Achram MC, Chamseddine NM. RosaiDorfman disease mimicking neurofibromatosis: case presentation and review of the literature. Clin Radiol 2004;59:625–30. 4. Ahsan SF, Madgy DN, Poulik J. Otolaryngologic manifestations of Rosai-Dorfman Disease. Int J Pediatr Otorhinolaryngol 2001;59: 221–7. 5. Raslan OA, Schellingerhout D, Fuller GN, Ketonen LM. RosaiDorfman disease in neuroradiology: imaging findings in a series of 10 patients. AJR Am J Roentgenol 2011;196:W187–93.
Otology & Neurotology, Vol. 37, No. 6, 2016
Copyright © 2016 Otology & Neurotology, Inc. Unauthorized reproduction of this article is prohibited.
Imaging Case of the Month
Rosai-Dorfman Disease Involving the Ear and Lateral Skull Base Diana G. Douleh, Matthew L. Carlson, yElizabeth B. Rinker, and David S. Haynes Department of Otolaryngology–Head and Neck Surgery; and yPathology, Microbiology, and Immunology, Vanderbilt University, Nashville, Tennessee
Rosai-Dorfman disease (RDD), also known as sinus histiocytosis with massive lymphadenopathy, is a rare idiopathic disorder characterized by benign histiocytic proliferation, first described in 1969 (1). Although there is no correlation with ethnicity or gender, the disease primarily affects children and young adults, with the typical presentation characterized by cervical lymphadenopathy often accompanied by fever and elevated erythrocyte sedimentation rate (1). Extranodal involvement is also possible, occurring either with accompanying lymphadenopathy or exclusively. The course of disease is variable, with most patients experiencing spontaneous remission, although recurring disease and a more aggressive course can also be observed (1). In cases of extranodal disease, head and neck manifestations are of highest prevalence, with nasal cavity and paranasal sinus involvement being most common (1,2). Extranodal disease is more likely to be chronic and relapsing, carrying a poorer prognosis (3). Middle ear involvement is extremely rare, with only one welldescribed case in the literature. We present the case of a patient presenting with bloody otorrhea and otalgia manifesting from an isolated extranodal RDD tumor originating from the middle ear.
erosive process involving the left mastoid and middle ear, prompting incisional biopsy. Permanent section pathology confirmed the diagnosis of RDD, and the patient underwent a canal wall-down tympanomastoidectomy with subtotal resection. During the course of the next 5 years, the patient received a total of six separate debulking procedures with laser; however, despite aggressive surgical treatment and frequent ototopic antibiotic therapy, the patient suffered from chronic bloody otorrhea and otalgia with disequilibrium, prompting referral to the authors’ center. On examination, a soft fleshy mass was seen filling the ear canal (Fig. 1), and magnetic resonance imaging (MRI) demonstrated a large lesion occupying the entire tympanomastoid cavity with invasion of the otic capsule, internal auditory canal, and
CASE PRESENTATION A 39-year-old diabetic woman presented to an outside facility with pain and bleeding from the left external ear. Physical examination revealed an ulcerated firm mass occupying the external auditory canal (EAC), and a preliminary diagnosis of necrotizing otitis externa was made. Imaging was obtained that revealed an extensive Address correspondence and reprint requests to David S. Haynes, M.D., Department of Otolaryngology–Head and Neck Surgery, The Bill Wilkerson Center for Otolaryngology and Communication Sciences, 7209 Medical Center East, South Tower, 1215 21st Ave South, Nashville, TN, U.S.A.; E-mail: [email protected] The authors disclose no conflicts of interest. IRB approval 131789
FIG. 1. Left ear after canal wall-down tympanomastoidectomy. A pink soft tissue mass can be seen filling the middle ear and mastoid cavity, protruding from the meatus.
e189
Copyright © 2016 Otology & Neurotology, Inc. Unauthorized reproduction of this article is prohibited.
e190
D. G. DOULEH ET AL.
FIG. 2. Contrast-enhanced axial (A) and coronal (B) T1-weighted MRI sequences demonstrating an infiltrative enhancing left temporal bone mass (white arrows) with middle and posterior fossa invasion.
across 10 fractions, and four cycles of cladribine, there was a marked reduction in tumor size with resolution of bleeding and pain (Fig. 4). She has now been followed for more than 6 years without evidence of local recurrence. DISCUSSION
FIG. 3. An immunohistochemical stain for CD68 highlights increased numbers of large histiocytes. Emperipolesis, a lymphocyte seen within the cytoplasm of a CD68þ histiocyte, can be seen (black arrow) (S10–26420 R-D 100 ).
middle and posterior fossa dura (Fig. 2). Audiometric evaluation confirmed profound ipsilateral sensorineural hearing loss. A review of outside pathology confirmed the diagnosis of RDD (Fig. 3). A multidisciplinary team evaluated the patient and, given the extensive and refractory nature of the patient’s disease, a trial of low-dose fractionated radiation with adjuvant chemotherapy was recommended. After a total dose of 20 Gy, administered
In 2001, Ahsan et al. (4) described a case of RDD involving the bilateral middle ears and EACs with concurrent obstructive tracheobronchial lesions in a patient initially diagnosed as having hearing loss and asthma. In this case, the diagnosis of RDD required several biopsies, illustrating the challenge of achieving a diagnosis in the absence of lymphadenopathy. Laser excision of airway disease was performed given symptoms of obstruction; however, the ear lesions were observed. Given the possibility of spontaneous regression, the authors recommended intervention only in cases of aggressive disease, functional obstruction, or for correction of cosmetic deformity (4). MRI of paranasal sinus and intracranial RDD typically reveals an isointense mass on both T1- and T2-weighted imaging that avidly enhances with gadolinium. Intracranial lesions frequently exhibit dural attachments that mimic meningioma. Finally, computed tomography commonly reveals a hyperdense mass to gray matter with variable degrees of surrounding bony erosion (5). The nonspecific radiologic features of RDD combined with the rare disease prevalence underscores the need for
FIG. 4. Axial (A) and coronal (B) T1-weighted MRI with contrast demonstrating a significant reduction in tumor volume (white arrows) 41 months after treatment with radiation therapy and 1 month after completing chemotherapy. Otology & Neurotology, Vol. 37, No. 6, 2016
Copyright © 2016 Otology & Neurotology, Inc. Unauthorized reproduction of this article is prohibited.
ROSAI-DORFMAN DISEASE OF THE EAR biopsy to confirm diagnosis. The histopathologic hallmark of RDD is the engulfment of lymphocytes by large histiocytes, a phenomenon termed emperipolesis (1). Although there is currently no standard treatment for RDD, options include surgery, radiotherapy, chemotherapy, and observation (4). RDD, although a rare disease entity, should be considered in the differential diagnosis for patients presenting with isolated middle ear and EAC lesions. Careful review of imaging and a low threshold for biopsy are warranted to ensure correct diagnosis and avoid unnecessary risks of resection or mismanagement. Longterm follow-up is necessary given the possibility of local recurrence after intervention or spontaneous regression.
e191 REFERENCES
1. Gaitonde S. Multifocal, extranodal sinus histiocytosis with massive lymphadenopathy: an overview. Arch Pathol Lab Med 2007;131: 1117–21. 2. Bist SS, Bisht M, Varshney S, Kishore S, Rosai-Dorfman disease. Ear Nose Throat J 2008;87:16–7. 3. Geara AR, Ayoubi MA, Achram MC, Chamseddine NM. RosaiDorfman disease mimicking neurofibromatosis: case presentation and review of the literature. Clin Radiol 2004;59:625–30. 4. Ahsan SF, Madgy DN, Poulik J. Otolaryngologic manifestations of Rosai-Dorfman Disease. Int J Pediatr Otorhinolaryngol 2001;59: 221–7. 5. Raslan OA, Schellingerhout D, Fuller GN, Ketonen LM. RosaiDorfman disease in neuroradiology: imaging findings in a series of 10 patients. AJR Am J Roentgenol 2011;196:W187–93.
Otology & Neurotology, Vol. 37, No. 6, 2016
Copyright © 2016 Otology & Neurotology, Inc. Unauthorized reproduction of this article is prohibited.
