K.E.M.
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Department of Radiology
Seth G.S. Medical College and K.E.M. Hospital, Mumbai , India
Case of the Month
Case of the Month
Rosai-Dorfman disease
Rosai-Dorfman disease
Contributed by: Shirish Deshmukh, Chandranshu Nagvekar
Contributed by: Shirish Deshmukh, Chandranshu Nagvekar
Clinical Profile:
Clinical Profile:
A 29 year old man came with complaints of difficulty in breathing and stridor. The patient also had a painless neck swelling, proptosis and bilateral pedal edema.
A 29 year old man came with complaints of difficulty in breathing and stridor. The patient also had a painless neck swelling, proptosis and bilateral pedal edema.
Radiological investigations:
Radiological investigations:
The frontal chest radiograph showed a soft tissue opacity in the right paratracheal region with base towards mediastinum . The lesion extended above the level of clavicle with indistinct superior margin.(Fig 1A)
The frontal chest radiograph showed a soft tissue opacity in the right paratracheal region with base towards mediastinum . The lesion extended above the level of clavicle with indistinct superior margin.(Fig 1A)
On sonography, enlarged hypoechoic lymph nodes with normal vascularity are seen. (Fig 1B)
On sonography, enlarged hypoechoic lymph nodes with normal vascularity are seen. (Fig 1B)
CECT showed enlarged homogeneously enhancing cervical lymph nodes extending into the superior mediastinum in right paratracheal region. (Fig 1C)
CECT showed enlarged homogeneously enhancing cervical lymph nodes extending into the superior mediastinum in right paratracheal region. (Fig 1C)
Figure 1 A-B-C
CECT showed homogenously enhancing left paravertebral soft tissue mass in posterior mediastinum at T8-T11 level with no calcifications or necrotic areas (Fig 2 )
CECT showed homogenously enhancing left paravertebral soft tissue mass in posterior mediastinum at T8-T11 level with no calcifications or necrotic areas (Fig 2 )
Figure 2
Ultrasonography of the abdomen showed bilateral hydronephrosis with hydroureter with an ill-defined hypoechoic soft tissue lesion encasing both proximal ureters. (Fig 3A)
Ultrasonography of the abdomen showed bilateral hydronephrosis with hydroureter with an ill-defined hypoechoic soft tissue lesion encasing both proximal ureters. (Fig 3A)
CECT showed homogeneously enhancing soft tissue lesion encasing both the proximal ureters and pelvicalyceal systems with no necrotic or haemorrhagic areas. The distal ureters and urinary bladder were normal.(Fig 3B, 3C)
CECT showed homogeneously enhancing soft tissue lesion encasing both the proximal ureters and pelvicalyceal systems with no necrotic or haemorrhagic areas. The distal ureters and urinary bladder were normal.(Fig 3B, 3C)
Figure 3 A-B-C
Ultrasonography of the globes revealed hypoechoic soft tissue lateral to both the globes. (Fig 4A)
Ultrasonography of the globes revealed hypoechoic soft tissue lateral to both the globes. (Fig 4A)
MRI of the brain and orbits showed T2 heterogeneously hyperintense bulky both lacrimal glands with homogenous post contrast enhancement. (Fig 4B, 4C)
MRI of the brain and orbits showed T2 heterogeneously hyperintense bulky both lacrimal glands with homogenous post contrast enhancement. (Fig 4B, 4C)
Figure 4 A-B-C
The CT scan of the neck showed a soft tissue lesion in sub glotti area abutting the inferior surface of true vocal cords and causing severe narrowing of subglottic airway. (Fig 5)
The CT scan of the neck showed a soft tissue lesion in sub glotti area abutting the inferior surface of true vocal cords and causing severe narrowing of subglottic airway. (Fig 5)
Figure 5
The Waters view and CT of the PNS showed bony remodelling with ground glass appearance of walls of paranasal sinuses with loss of pneumatization (Fig 6A and 6B)
The Waters view and CT of the PNS showed bony remodelling with ground glass appearance of walls of paranasal sinuses with loss of pneumatization (Fig 6A and 6B)
Figure 6 A-B
MRI brain revealed T2 hypointense heterogeneously enhancing lesion in choroid plexus in occipital horn of right lateral ventricle. (Fig 7A, 7B)
MRI brain revealed T2 hypointense heterogeneously enhancing lesion in choroid plexus in occipital horn of right lateral ventricle. (Fig 7A, 7B)
Figure 7 A-B
Radiological diagnosis:
Radiological diagnosis:
Based on imaging features, the differential diagnosis considered were considered were:
Based on imaging features, the differential diagnosis considered were considered were:
• Lymphoma
• Lymphoma
• Multicentric Castleman’s disease
• Multicentric Castleman’s disease
• IgG4 related granulomatous inflammation.
• IgG4 related granulomatous inflammation.
Pathological diagnosis:
Pathological diagnosis:
The patient underwent sonography guided biopsy of the left periureteric mass.
The patient underwent sonography guided biopsy of the left periureteric mass.
This showed infiltration of lymphoplasmacytic cells and histiocytes on histopathology. The histiocytes stained positive for CD68 consistent with a diagnosis of Rosai-Dorfman Disease. (RDD)
This showed infiltration of lymphoplasmacytic cells and histiocytes on histopathology. The histiocytes stained positive for CD68 consistent with a diagnosis of Rosai-Dorfman Disease. (RDD)
Timeline:
Timeline:
Discussion:
Discussion:
Rosai-Dorfman Disease (RDD), also known by the more descriptive name sinus histiocytosis with massive lymphadenopathy, is a rare disorder characterized by macrophage proliferation (1) .
Rosai-Dorfman Disease (RDD), also known by the more descriptive name sinus histiocytosis with massive lymphadenopathy, is a rare disorder characterized by macrophage proliferation (1) .
The most common manifestation of RDD is nonspecific painless lymphadenopathy (most often cervical and less commonly retroperitoneal, mediastinal, axillary, or inguinal) accompanied by fever, an elevated erythrocyte sedimentation rate, and mild anaemia.
The most common manifestation of RDD is nonspecific painless lymphadenopathy (most often cervical and less commonly retroperitoneal, mediastinal, axillary, or inguinal) accompanied by fever, an elevated erythrocyte sedimentation rate, and mild anaemia.
Enlarged lymph nodes in RDD reveal homogeneous enhancement on CT images and hypermetabolism on FDG-PET images (2) .
Enlarged lymph nodes in RDD reveal homogeneous enhancement on CT images and hypermetabolism on FDG-PET images (2) .
Extra nodal disease occurs in nearly half of patients and can involve nearly every organ system, with the head and neck being the most common sites of involvement.
Extra nodal disease occurs in nearly half of patients and can involve nearly every organ system, with the head and neck being the most common sites of involvement.
CNS involvement: intracranial lesions primarily in the epidural or subdural compartments, cerebral convexities, cavernous sinuses, the suprasellar region, and petroclival regions. Choroid plexus involvement is rare but has been described in literature (3,4) .
CNS involvement: intracranial lesions primarily in the epidural or subdural compartments, cerebral convexities, cavernous sinuses, the suprasellar region, and petroclival regions. Choroid plexus involvement is rare but has been described in literature (3,4) .
Paranasal sinus disease manifests at imaging as enhancing polypoid masses or mucosal thickening and may appear aggressive (5) .
Paranasal sinus disease manifests at imaging as enhancing polypoid masses or mucosal thickening and may appear aggressive (5) .
Orbital lesions generally appear as infiltrative soft-tissue masses with variable contrast enhancement, involving the lacrimal gland, or intraconal or extraconal compartments
Orbital lesions generally appear as infiltrative soft-tissue masses with variable contrast enhancement, involving the lacrimal gland, or intraconal or extraconal compartments
Abdominal involvement: Intra abdominal - extra nodal disease is uncommon; the kidney is the most common intra abdominal extra nodal site of RDD.
Abdominal involvement: Intra abdominal - extra nodal disease is uncommon; the kidney is the most common intra abdominal extra nodal site of RDD.
Bilateral infiltrative perihilar masses are the most common renal manifestation, followed by a mass like appearance or subcapsular location (6) .
Bilateral infiltrative perihilar masses are the most common renal manifestation, followed by a mass like appearance or subcapsular location (6) .
Osseous involvement: Bone lesions occur in 5–10% of all cases of RDD. These lesions usually present as lytic intramedullary lesions with sharply or poorly defined margins, most commonly in long bones in a metaphyseal location.
Osseous involvement: Bone lesions occur in 5–10% of all cases of RDD. These lesions usually present as lytic intramedullary lesions with sharply or poorly defined margins, most commonly in long bones in a metaphyseal location.
Thoracic involvement: Enlarged mediastinal lymph nodes are common. In addition to mediastinal and hilar lymphadenopathy, homogeneously enhancing mediastinal masses with a lobular contour can also be seen. Calcifications are usually absent. It may rarely manifest as a lung mass. (7)
Thoracic involvement: Enlarged mediastinal lymph nodes are common. In addition to mediastinal and hilar lymphadenopathy, homogeneously enhancing mediastinal masses with a lobular contour can also be seen. Calcifications are usually absent. It may rarely manifest as a lung mass. (7)
Cutaneous manifestations: The skin is involved in 10% of extra nodal RDD case. Lesions are typically slow growing, painless, nonpruritic nodules, plaques, or papule. Any skin site can be affected.
Cutaneous manifestations: The skin is involved in 10% of extra nodal RDD case. Lesions are typically slow growing, painless, nonpruritic nodules, plaques, or papule. Any skin site can be affected.
Several conditions closely mimic the diagnosis of RDD, primarily those presenting with generalized lymphadenopathy such as lymphoma, Kikuchi disease, and multicentric Castleman’s disease. The differentiation from lymphoma may not be possible on imaging in nodal disease only. Typical extra nodal spread of RCD may aid in reaching a differential diagnosis. Kikuchi disease usually presents with unilateral cervical lymphadenopathy and CT imaging often reveals nodal necrosis and peri-nodal infiltration in Kikuchi disease. In Castleman disease, the presence of hepato-splenomegaly, ascites, and pleural or pericardial effusion, which are not usually seen in RDD helps in differentiation.
Several conditions closely mimic the diagnosis of RDD, primarily those presenting with generalized lymphadenopathy such as lymphoma, Kikuchi disease, and multicentric Castleman’s disease. The differentiation from lymphoma may not be possible on imaging in nodal disease only. Typical extra nodal spread of RCD may aid in reaching a differential diagnosis. Kikuchi disease usually presents with unilateral cervical lymphadenopathy and CT imaging often reveals nodal necrosis and peri-nodal infiltration in Kikuchi disease. In Castleman disease, the presence of hepato-splenomegaly, ascites, and pleural or pericardial effusion, which are not usually seen in RDD helps in differentiation.
Imaging is useful in the identification, staging, and monitoring of RDD. The imaging manifestations of the disease overlap with a variety of neoplastic conditions (lymphoma, carcinoma metastases) and inflammatory conditions (Castleman disease, and sarcoidosis). The presence of the most common extra nodal findings—namely, head and neck, skin, subcutaneous, or bone lesions— may help suggest RDD.
Imaging is useful in the identification, staging, and monitoring of RDD. The imaging manifestations of the disease overlap with a variety of neoplastic conditions (lymphoma, carcinoma metastases) and inflammatory conditions (Castleman disease, and sarcoidosis). The presence of the most common extra nodal findings—namely, head and neck, skin, subcutaneous, or bone lesions— may help suggest RDD.
Diagnosis:
Diagnosis:
Characteristic pathologic features include emperipolesis and immunohistochemistry stains positive for S-100 and CD68 and negative for CD1a and factor XIIIa.
Characteristic pathologic features include emperipolesis and immunohistochemistry stains positive for S-100 and CD68 and negative for CD1a and factor XIIIa.
Treatment and prognosis:
Treatment and prognosis:
Although the prognosis varies from patient to patient, RDD has an overall good prognosis, with many patients having an indolent clinical course and even spontaneous resolution. The need for treatment remains uncertain, and treatment is likely unnecessary in most cases. If treatment is deemed necessary because of vital organ involvement or complications, the mainstay is surgical resection (8). Radiation therapy and long-term corticosteroid therapy have been used with mixed results, while chemotherapy has generally proven ineffective (9). Extra nodal involvement has a worse prognosis than nodal involvement.
Although the prognosis varies from patient to patient, RDD has an overall good prognosis, with many patients having an indolent clinical course and even spontaneous resolution. The need for treatment remains uncertain, and treatment is likely unnecessary in most cases. If treatment is deemed necessary because of vital organ involvement or complications, the mainstay is surgical resection (8). Radiation therapy and long-term corticosteroid therapy have been used with mixed results, while chemotherapy has generally proven ineffective (9). Extra nodal involvement has a worse prognosis than nodal involvement.
Conclusion:
Conclusion:
In conclusion, RDD is a rare histiocytic disorder with multisystem involvement manifesting with a broad spectrum of imaging findings. Awareness of the protean imaging manifestations of RDD could enable clinicians to consider this rare disease as a diagnostic differential in patients with multisystem involvement. Nevertheless, the definitive diagnosis of RDD should be multidisciplinary and must include a holistic analysis of clinical presentations, imaging manifestations, and histopathologic findings.
In conclusion, RDD is a rare histiocytic disorder with multisystem involvement manifesting with a broad spectrum of imaging findings. Awareness of the protean imaging manifestations of RDD could enable clinicians to consider this rare disease as a diagnostic differential in patients with multisystem involvement. Nevertheless, the definitive diagnosis of RDD should be multidisciplinary and must include a holistic analysis of clinical presentations, imaging manifestations, and histopathologic findings.
References:
References:
- Osama Raslan, Dawid Schellingerhout, Fuller GN, Ketonen L. Rosai-Dorfman Disease in Neuroradiology: Imaging Findings in a Series of 10 Patients. American Journal of Roentgenology. 2011 Feb 1;196(2):W187–93.
2. Ali A, Mackay D. Rosai-Dorfman disease of the lung. Thorax 2009;64(10):908–909.
2. Ali A, Mackay D. Rosai-Dorfman disease of the lung. Thorax 2009;64(10):908–909.
3. Rosai J, Dorfman RF. Sinus histiocytosis with massive lymphadenopathy: a newly recognized benign clinicopathological entity. Arch Pathol 1969;87(1): 63–70
3. Rosai J, Dorfman RF. Sinus histiocytosis with massive lymphadenopathy: a newly recognized benign clinicopathological entity. Arch Pathol 1969;87(1): 63–70
4. La Barge DV 3rd, Salzman KL, Harnsberger HR, et al. Sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman disease): imaging manifestations in the head and neck. AJR Am J Roentgenol 2008;191(6)
4. La Barge DV 3rd, Salzman KL, Harnsberger HR, et al. Sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman disease): imaging manifestations in the head and neck. AJR Am J Roentgenol 2008;191(6)
5. McAlister WH, Herman T, Dehner LP. Sinus histiocytosis with massive lymphadenopathy (Rosai Dorfman disease). Pediatr Radiol 1990;20(6): 425–43
5. McAlister WH, Herman T, Dehner LP. Sinus histiocytosis with massive lymphadenopathy (Rosai Dorfman disease). Pediatr Radiol 1990;20(6): 425–43
6. Konishi E, Ibayashi N, Yamamoto S, Scheithauer BW. Isolated intracranial Rosai-Dorfman disease (sinus histiocytosis with massive lymphadenopathy). AJNR Am J Neuroradiol 2003;24(3):515–518.
6. Konishi E, Ibayashi N, Yamamoto S, Scheithauer BW. Isolated intracranial Rosai-Dorfman disease (sinus histiocytosis with massive lymphadenopathy). AJNR Am J Neuroradiol 2003;24(3):515–518.
7. Henter JI, Horne A, Aricó M, et al. HLH-2004: di-agnostic and therapeutic guidelines for hemophago-cytic lymphohistiocytosis. Pediatr Blood Cancer 2007;48(2):124–131.
7. Henter JI, Horne A, Aricó M, et al. HLH-2004: di-agnostic and therapeutic guidelines for hemophago-cytic lymphohistiocytosis. Pediatr Blood Cancer 2007;48(2):124–131.
8. Vaidya T, Mahajan A, Rane S. Multimodality imaging manifestations of Rosai-Dorfman disease. Acta Radiologica Open. 2020 Aug;9(8):205846012094671.
8. Vaidya T, Mahajan A, Rane S. Multimodality imaging manifestations of Rosai-Dorfman disease. Acta Radiologica Open. 2020 Aug;9(8):205846012094671.