Craniofacial Manifestations of Systemic Disorders: CT and MR Imaging Findings and Imaging Approach

HomeRadioGraphicsVol. 38, No. 3 PreviousNext Neurologic/Head and Neck ImagingFree AccessCraniofacial Manifestations of Systemic Disorders: CT and MR Imaging Findings and Imaging ApproachV. Carlota Andreu-Arasa, Margaret N. Chapman, Hirofumi Kuno2, Akifumi Fujita2, Osamu Sakai V. Carlota Andreu-Arasa, Margaret N. Chapman, Hirofumi Kuno2, Akifumi Fujita2, Osamu Sakai Author AffiliationsFrom the Departments of Radiology (V.C.A.A., M.N.C., H.K., A.F., O.S.), Otolaryngology–Head and Neck Surgery (O.S.), and Radiation Oncology (O.S.), Boston University Medical Center, Boston University School of Medicine, 820 Harrison Ave, 3rd Floor, Boston, MA 02118.Address correspondence to O.S. (e-mail: [email protected]).V. Carlota Andreu-ArasaMargaret N. ChapmanHirofumi Kuno2Akifumi Fujita2Osamu Sakai Published Online:May 14 2018https://doi.org/10.1148/rg.2018170145MoreSectionsPDF ToolsImage ViewerAdd to favoritesCiteTrack CitationsPermissionsReprints ShareShare onFacebookTwitterLinked InEmail AbstractMany systemic diseases or conditions can affect the maxillofacial bones; however, they are often overlooked or incidentally found at routine brain or head and neck imaging performed for other reasons. Early identification of some conditions may significantly affect patient care and alter outcomes. Early recognition of nonneoplastic hematologic disorders, such as thalassemia and sickle cell disease, may help initiate earlier treatment and prevent serious complications. The management of neoplastic diseases such as lymphoma, leukemia, or Langerhans cell histiocytosis may be different if diagnosed early, and metastases to the maxillofacial bones may be the first manifestation of an otherwise occult neoplasm. Endocrinologic and metabolic disorders also may manifest with maxillofacial conditions. Earlier recognition of osteoporosis may alter treatment and prevent complications such as insufficiency fractures, and identification of acromegaly may lead to surgical treatment if there is an underlying growth hormone–producing adenoma. Bone dysplasias sometimes are associated with skull base foraminal narrowing and subsequent involvement of the cranial nerves. Inflammatory processes such as rheumatoid arthritis and sarcoidosis may affect the maxillofacial bones, skull base, and temporomandibular joints. Radiologists should be familiar with the maxillofacial computed tomographic and magnetic resonance imaging findings of common systemic disorders because these may be the first manifestations of an otherwise unrevealed systemic process with potential for serious complications.Online supplemental material is available for this article.©RSNA, 2018SA-CME LEARNING OBJECTIVESAfter completing this journal-based SA-CME activity, participants will be able to:■ Describe the various systemic diseases or conditions that affect the maxillofacial bones.■ Recognize CT and MR imaging findings of common and uncommon systemic diseases and conditions that affect the craniofacial bones.■ Discuss the imaging approach used to establish a list of differential considerations for underlying conditions involving the maxillofacial bones.IntroductionRegional or systemic disease processes may affect the maxillofacial bones. Although sometimes subtle and unexpected, maxillofacial involvement from a systemic condition may be identified at routine imaging of the brain or head and neck and may serve as a harbinger of an otherwise unrecognized underlying process. Systemic processes often are considered when there is diffuse involvement of the bones, but focal lesions may be confused with a local primary process. Early detection of systemic diseases can allow modification of treatment and prevention of serious complications.In this article, we review the imaging findings of various systemic disease processes that can affect the maxillofacial bones to facilitate recognition of the underlying condition and the development of a differential diagnosis. In this article, systemic conditions are organized into six categories: (a) nonneoplastic hematologic diseases, (b) neoplastic hematologic processes, (c) endocrinologic and metabolic diseases, (d) bone dysplasias, (e) drug-related disorders, and (f) inflammatory disorders. Imaging approaches to systemic disorders that affect craniofacial bones are discussed (Fig 1, Table E1).Figure 1. Diagram shows a diagnostic algorithm for craniofacial manifestations of systemic disorders. CPPD =calcium pyrophosphate dehydrate deposition, LCH = Langerhans cell histiocytosis, SCD = sickle cell disease.Figure 1.Download as PowerPointOpen in Image Viewer Nonneoplastic Hematologic DiseasesMaxillofacial bone marrow comprises a mixture of fatty and red marrow. Children and young adults have abundant red marrow, while adult bone primarily contains yellow marrow (1). Prolonged or severe anemia often results in hematopoietic hyperplasia, persistent red marrow, or red marrow reconversion. When the demand for hematopoietic activity extends beyond the current capacity of the red marrow, conversion of fatty (yellow) marrow into red marrow occurs.At magnetic resonance (MR) imaging, absence of normal fatty marrow from persistence, reconversion, or hyperplasia of red marrow results in diffuse T1 hypointensity, slight short inversion time inversion-recovery (STIR) hyperintensity (relative to muscles) in the bone marrow (2), and impeded diffusion due to high cellularity (3). These imaging features can be seen in patients with severe anemia from hematologic disorders, although similar findings may be seen in patients with anemia from other chronic diseases such as obesity and human immunodeficiency virus (HIV) infection and from heavy smoking (2). Severe anemia may result in expansion of the marrow cavity and cortical thinning. Further extramedullary hematopoiesis may be seen in patients with severe anemia, such as those with sickle cell disease, thalassemia, or myeloproliferative disorders.Sickle Cell DiseaseSickle cell disease is an inherited autosomal disease characterized by abnormally shaped red blood cells resulting from an abnormal β chain twist. Osseous involvement is the most common clinical manifestation of sickle cell disease and can be seen in the maxillofacial bones and skull base, although it is rare owing to the relatively small marrow cavity (4). Clinical manifestations of sickle cell bone disease are attributed to three mechanisms: vaso-occlusion, chronic anemia, and infection (4).Vaso-occlusive crises are the most common and earliest osseous manifestations of sickle cell disease and may lead to bone infarcts and subperiosteal hemorrhages (4). Bone infarcts usually occur in locations with high bone marrow activity, such as the long bones or vertebrae in adults. However, because children have more diffuse bone marrow activity, other locations such as the orbital walls, skull base, or mandible may be affected in this population (5). Characteristic symptoms of bone infarction in the craniofacial region are regional pain and headache (6). MR imaging is useful in evaluation of bone marrow signal intensity changes and may show marrow edema as hyperintensity on T2-weighted STIR images, with heterogeneous or rimlike enhancement correlating with the region of avascularization (4,6) (Fig 2). In addition, MR imaging may allow identification of complications from bone infarcts, such as epidural or subperiosteal hematomas, and can allow differentiation of these conditions from infectious processes such as osteomyelitis and abscesses, which also are common complications in this population (4,5). Computed tomography (CT) is of limited use for diagnosis of early marrow ischemia but is useful for detection of associated subperiosteal hemorrhages or collections. Chronic osseous changes related to prior infarcts may be seen as areas of mixed osteosclerosis and osteolysis at CT and low signal intensity on images with all MR sequences due to sclerosis and fibrosis (7).Figure 2a. Sickle cell disease with acute bone infarct in a 6-year-old boy who presented with a headache and pain in the left temporomandibular joint (TMJ). (a) Axial T1-weighted MR image shows mild expansion of the marrow space of the bilateral mandibular rami (arrows) and absence of the usual T1 hyperintensity. (b) Coronal T2-weighted MR image shows ill-defined areas of high signal intensity in the left mandibular ramus and sphenoid bone (arrowheads), findings indicative of edema secondary to acute bone infarct.Figure 2a.Download as PowerPointOpen in Image Viewer Figure 2b. Sickle cell disease with acute bone infarct in a 6-year-old boy who presented with a headache and pain in the left temporomandibular joint (TMJ). (a) Axial T1-weighted MR image shows mild expansion of the marrow space of the bilateral mandibular rami (arrows) and absence of the usual T1 hyperintensity. (b) Coronal T2-weighted MR image shows ill-defined areas of high signal intensity in the left mandibular ramus and sphenoid bone (arrowheads), findings indicative of edema secondary to acute bone infarct.Figure 2b.Download as PowerPointOpen in Image Viewer Chronic anemia often results in persistent red marrow, red marrow reconversion, or red marrow hyperplasia, identified as hypointensity on T1-weighted images, with mildly increased signal intensity on diffusion-weighted images (b = 1000 sec/mm2). Associated medullary cavity expansion and thinning of the cortex may be seen (8). At CT, loss of normal trabeculation is commonly seen in patients with sickle cell disease (Fig 3). Changes from iron overload, such as fibrosis and iron deposition, are often seen in the marrow of the craniofacial bones and in the soft tissue of the neck in patients with sickle cell disease who have been treated with long-term frequent transfusions (4,9–11).Figure 3a. Sickle cell disease with persistent red marrow and marrow space expansion in a 21-year-old man who presented with swelling of the left eye and parotid. (a) Axial bone algorithm CT image shows expansion of the frontal and sphenoid bones, with loss of normal trabeculation (arrows). (b) Axial T1-weighted MR image shows expanded marrow spaces of the frontal and sphenoid bones (arrows), with absence of normal high signal intensity from fatty marrow representing persistent red marrow.Figure 3a.Download as PowerPointOpen in Image Viewer Figure 3b. Sickle cell disease with persistent red marrow and marrow space expansion in a 21-year-old man who presented with swelling of the left eye and parotid. (a) Axial bone algorithm CT image shows expansion of the frontal and sphenoid bones, with loss of normal trabeculation (arrows). (b) Axial T1-weighted MR image shows expanded marrow spaces of the frontal and sphenoid bones (arrows), with absence of normal high signal intensity from fatty marrow representing persistent red marrow.Figure 3b.Download as PowerPointOpen in Image Viewer Extramedullary hematopoiesis is a compensatory response to increased demand for red blood cells. In the maxillofacial region, the paranasal sinuses (most commonly the maxillary sinus), middle ear, lacrimal fossa, thyroid gland, and lymph nodes are affected most often (4). At imaging, extramedullary hematopoiesis may be seen as a homogeneously enhancing soft-tissue mass, with similar attenuation or isointensity compared with the intramedullary red marrow (4).Osteomyelitis related to sickle cell disease may affect the maxillofacial bones, particularly the mandible, because of the relatively low blood supply (4). The imaging characteristics of osteomyelitis are similar to those of infarction with subperiosteal hemorrhage (4). Evidence of communication between a soft-tissue fluid collection with adjacent bone medullary signal intensity abnormality through cortical defects and osseous enhancement around a nonenhancing center on contrast material–enhanced T1-weighted MR images favor a diagnosis of an infectious process rather than an infarct (4). Both abscess and subperiosteal hematoma may demonstrate diffusion restriction, although strong restricted diffusion is more suggestive of abscess. The presence of a susceptibility effect suggests subperiosteal hemorrhage (4). Organisms frequently responsible for osteomyelitis in patients with sickle cell disease are Salmonella and Staphylococcus aureus (5). Subperiosteal hemorrhages may cause remarkable mass effect on the adjacent structures. Orbital wall infarction with subperiosteal hemorrhage may cause remarkable compression of the intraorbital structures including the optic nerve (4).ThalassemiaThalassemia is a hemoglobinopathy resulting in increased destruction of red blood cells and compensatory bone marrow hypertrophy secondary to increased demand. There is diffuse involvement of all bone marrow, including that of the spine, craniofacial bones, ribs, and long bones (12). The increased marrow activity results in marrow cavity expansion, thinning of cortices and the trabeculae, and osteopenia. Compression fractures and increased incidence of scoliosis and kyphosis in the spine may be seen as complications (12).Radiographic features of thalassemia in the maxillofacial bones include decreased attenuation of the alveolar bone and thinning of the cortical bone, with enlarged marrow spaces and coarse trabeculation. The roots of the teeth may be shortened (13). Remarkable thickening of the frontal bone and increased dimensions of the mandibular ramus, with associated thinning of its inferior border, have been described (14). In the skull, a characteristic "hair-on-end" appearance characterized by cortical erosion, leaving only periosteum because of marrow proliferation, may be seen on radiographs (13). Bone marrow expansion and cortical thinning are well visualized on CT images (Fig 4). On MR images, expansion of the marrow space with decreased T1 signal intensity is seen secondary to red marrow hyperplasia (14).Figure 4a. Thalassemia major in a 10-year-old girl who presented with nasal obstruction. (a) Axial bone algorithm CT image shows severe widening of the marrow space, loss of normal trabeculation, and decreased bone density involving the maxillary sinus walls (arrows), zygomatic arches (*), and pterygoid plates (arrowheads) secondary to medullary cavity expansion, resulting in complete obliteration of the maxillary sinuses. (b) Axial CT image through the skull shows remarkable marrow space expansion and cortical erosion, a characteristic "hair-on-end" appearance.Figure 4a.Download as PowerPointOpen in Image Viewer Figure 4b. Thalassemia major in a 10-year-old girl who presented with nasal obstruction. (a) Axial bone algorithm CT image shows severe widening of the marrow space, loss of normal trabeculation, and decreased bone density involving the maxillary sinus walls (arrows), zygomatic arches (*), and pterygoid plates (arrowheads) secondary to medullary cavity expansion, resulting in complete obliteration of the maxillary sinuses. (b) Axial CT image through the skull shows remarkable marrow space expansion and cortical erosion, a characteristic "hair-on-end" appearance.Figure 4b.Download as PowerPointOpen in Image Viewer Thalassemia is treated with blood transfusion and blood and marrow stem cell transplantation. Because only a small number of individuals with severe thalassemia are able to find a good donor match, transfusion is still the standard treatment in many countries. Complications from iron overload, including fibrosis and iron deposition in the bone marrow, may be seen in patients who have undergone frequent blood transfusions. Iron deposition in the liver and heart may be seen despite chelation therapy (15,16).Neoplastic Hematologic ProcessesHematologic malignancies may manifest as diffuse or focal bone marrow abnormalities or may appear as soft-tissue masses. Maxillofacial manifestations may precede clinically systemic disease. CT and MR imaging are the primary imaging modalities in the identification of marrow abnormalities. Fluorine 18 (18F) fluorodeoxyglucose (FDG) positron emission tomography (PET) provides information regarding metabolic activity and is particularly useful in diagnosing neoplastic hematologic processes. Uptake of FDG in normal hematopoietic marrow is seen, and its pattern and amount can vary with age and the level of marrow function at the time of the examination (17).LymphomaLymphoma can involve the osseous structures, either with or without nodal disease. Hodgkin lymphoma most often involves lymph nodes, whereas non-Hodgkin lymphoma affects nodal and extranodal sites. In the head and neck, non-Hodgkin lymphoma often involves the Waldeyer ring, paranasal sinuses, nasal cavity, oral cavity, orbits, salivary glands, and thyroid and may involve the adjacent bone. However, primary intraosseous non-Hodgkin lymphoma rarely involves the maxillofacial bones. Diagnosis is often delayed because nonspecific symptoms such as minor tooth pain and movement may mimic an odontogenic infection (18).Non-Hodgkin lymphoma may appear as an ill-defined slightly expansile osseous lesion on CT images (18). Extensive marrow infiltration and associated osseous rarefaction may result in a "floating teeth" appearance with widening of the periodontal ligament, often accompanied by mild cortical bone destruction relative to the extent of tumor involvement (19) (Fig 5). MR imaging may show bone marrow infiltration and extraosseous soft-tissue lesions parallel to the bone destruction (20). Lymphoma demonstrates intermediate to low T2 signal intensity on MR images, with diffusion restriction secondary to high cellularity, which can suggest the diagnosis with a high degree of accuracy (18,21) (Fig 6). Pathologic fractures can be seen as a complication (22).Figure 5a. Lymphoma in a 38-year-old man with an enlarged chin. (a) Axial STIR MR image shows a hyperintense lesion centered in the mandibular symphysis, with an associated soft-tissue mass extending through the buccal and lingual cortices of the mandible (arrows). (b) Axial diffusion-weighted image (b = 1000 sec/mm2) shows high signal intensity due to high cellularity of the lesion (arrows), consistent with diffusion restriction. Biopsy revealed diffuse large B-cell lymphoma.Figure 5a.Download as PowerPointOpen in Image Viewer Figure 5b. Lymphoma in a 38-year-old man with an enlarged chin. (a) Axial STIR MR image shows a hyperintense lesion centered in the mandibular symphysis, with an associated soft-tissue mass extending through the buccal and lingual cortices of the mandible (arrows). (b) Axial diffusion-weighted image (b = 1000 sec/mm2) shows high signal intensity due to high cellularity of the lesion (arrows), consistent with diffusion restriction. Biopsy revealed diffuse large B-cell lymphoma.Figure 5b.Download as PowerPointOpen in Image Viewer Figure 6a. Diffuse large B-cell lymphoma in a 73-year-old woman who presented with swelling of the right cheek. (a) Axial contrast-enhanced CT image shows a homogeneously enhancing lesion (arrows) in the region of the right maxilla and the right maxillary sinus with preserved maxillary sinus walls. (b) Axial fat-suppressed T2-weighted MR image shows intermediate signal intensity of the lesion (arrows). (c) Axial diffusion-weighted image (b = 1000 sec/mm2) shows increased signal intensity of the lesion (arrows). (d) Axialapparent diffusion coefficient map shows diffusion restriction of the lesion (arrows). Biopsy revealed diffuse large B-cell lymphoma.Figure 6a.Download as PowerPointOpen in Image Viewer Figure 6b. Diffuse large B-cell lymphoma in a 73-year-old woman who presented with swelling of the right cheek. (a) Axial contrast-enhanced CT image shows a homogeneously enhancing lesion (arrows) in the region of the right maxilla and the right maxillary sinus with preserved maxillary sinus walls. (b) Axial fat-suppressed T2-weighted MR image shows intermediate signal intensity of the lesion (arrows). (c) Axial diffusion-weighted image (b = 1000 sec/mm2) shows increased signal intensity of the lesion (arrows). (d) Axialapparent diffusion coefficient map shows diffusion restriction of the lesion (arrows). Biopsy revealed diffuse large B-cell lymphoma.Figure 6b.Download as PowerPointOpen in Image Viewer Figure 6c. Diffuse large B-cell lymphoma in a 73-year-old woman who presented with swelling of the right cheek. (a) Axial contrast-enhanced CT image shows a homogeneously enhancing lesion (arrows) in the region of the right maxilla and the right maxillary sinus with preserved maxillary sinus walls. (b) Axial fat-suppressed T2-weighted MR image shows intermediate signal intensity of the lesion (arrows). (c) Axial diffusion-weighted image (b = 1000 sec/mm2) shows increased signal intensity of the lesion (arrows). (d) Axialapparent diffusion coefficient map shows diffusion restriction of the lesion (arrows). Biopsy revealed diffuse large B-cell lymphoma.Figure 6c.Download as PowerPointOpen in Image Viewer Figure 6d. Diffuse large B-cell lymphoma in a 73-year-old woman who presented with swelling of the right cheek. (a) Axial contrast-enhanced CT image shows a homogeneously enhancing lesion (arrows) in the region of the right maxilla and the right maxillary sinus with preserved maxillary sinus walls. (b) Axial fat-suppressed T2-weighted MR image shows intermediate signal intensity of the lesion (arrows). (c) Axial diffusion-weighted image (b = 1000 sec/mm2) shows increased signal intensity of the lesion (arrows). (d) Axialapparent diffusion coefficient map shows diffusion restriction of the lesion (arrows). Biopsy revealed diffuse large B-cell lymphoma.Figure 6d.Download as PowerPointOpen in Image Viewer Multiple MyelomaMultiple myeloma is a hematologic malignancy characterized by monoclonal proliferation of mature plasma cells (23). Multiple myeloma is the most common primary osseous malignancy in elderly patients (24). Common symptoms include bone pain, anemia, fatigue, renal insufficiency, hypercalcemia, and weight loss. If lesions involve the mandible, gingival bleeding, dental pain or paresthesia, and chin numbness may be encountered (25). Multiple myeloma may appear on images as an intramedullary soft-tissue mass with osteolytic lesions with a "punched-out" appearance (25) (Fig 7) or as an infiltrative bone marrow process (23) (Fig 8). CT is useful for identification of lesions because only 10%–20% are identified at radiographic examinations (25). CT features of multiple myeloma include endosteal remodeling or cortical dehiscence with an associated soft-tissue mass. Pathologic fractures also are seen frequently because of fragile osteopenic bones.Figure 7a. Multiple myeloma in a 60-year-old man who presented with bilateral lower-limb weakness and bone marrow abnormalities seen at spine MR imaging. (a) Skull radiograph shows multiple punched-out osteolytic lesions (arrowheads). (b) Axial bone algorithm CT image demonstrates multiple lytic lesions in the calvaria (arrows).F