British Journal of Radiology (2004) 77, 197-203
© 2004 British Institute of Radiology
doi: 10.1259/bjr/88438282
Hereditary intraosseous vascular malformation of the craniofacial region: imaging findings
I Vargel, MD, PhD1,
B E Çil, MD2,
P Kiratli, MD3,
D Akinci, MD2 and
Y Erk, MD1
Hacettepe University Hospitals, 1 Plastic and Reconstructive Surgery, Departments of 2 Radiology and 3 Nuclear Medicine, 06100, Samanpazari, Ankara, Turkey
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Abstract
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Benign vascular lesions can be classified into two categories depending on clinical behaviour and endothelial cell characteristics: neoplasms (haemangiomas) and vascular malformations. However, intraosseous vascular anomaly, previously called intraosseous haemangioma, is a very rare malformation. In our previous study, we described the first hereditary form of intraosseous vascular malformation of the craniofacial region, vascular malformation osseous (VMOS). Characteristic findings are autosomal recessive inheritance, severe and diffuse intraosseous vascular malformation in all craniofacial bones without soft tissue involvement and associated mid-line abnormalities such as umbilical hernia and supra-umbilical raphe. In this paper, we discuss the imaging findings of this new disorder in detail.
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Introduction
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In the literature, osseous haemangiomas of the craniofacial bones are reported as rare solitary lesions involving the mandible, maxilla, zygomatic bone and calvarium [1–4]. In 1982, the classification of cutaneous haemangiomas and vascular malformations was reviewed and up-dated according to biological criteria [5]. By correlating clinical behaviour and endothelial cell characteristics, Mulliken and Glowacki classified these lesions into two major categories: vascular neoplasms (haemangiomas) and malformations [5]. According to this classification, cutaneous vascular neoplasms are benign endothelial cell neoplasm of soft tissue that appear in infancy and usually have a natural history of proliferation and involution. This classification does not cover bony vascular malformations and there is no classification in the English literature for intraosseous vascular malformations. Vascular malformations are errors of vascular morphogenesis that are present at birth, grow with the child, and never involute but often expand [5, 6]. According to Kaban and Mulliken, "intraosseous haemangioma" term should be used carefully and they report that the majority of "haemangiomas" of the maxillofacial skeleton that they reviewed in the literature are venous malformations [7].
There are features on histology that may allow differentiation of the two lesions using MRI, angiography and Doppler ultrasound [8–10].
Recently, using a total of 4 cases from two distinct families, we described a new disorder which we called hereditary intraosseous vascular malformation of the craniofacial region, vascular malformation osseous (VMOS) [11]. Characteristic clinical findings of these patients are severe craniofacial bone expansions, life-threatening gingival bleeding, anaemia, atypic tooth eruptions, impaction and displacement with bony enlargement, malocclusion and contour deformity of the craniofacial region. The other findings are mid-line abnormalities such as diastasis recti, umbilical hernia and supra-umbilical raphe. Malformation progresses to the skull from the mandibular and maxillary area after puberty. Bone enlargement was restricted to the mandible and maxilla until the patient was 12- to 13-years-old. From this age on, deformity rapidly progressed to involve all the bones of the head and face. Histopathological and immunohistochemical evaluation supported vascular malformation demonstrating saccular blood vessel expansions without endothelial proliferation.
Here we discuss the imaging findings of these 4 cases (3 of them are from the same family) of this diffuse intraosseous vascular malformation affecting the craniofacial bones.
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Materials and methods
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Only radiological evaluation has been included in this paper as detailed clinical, histopathological and molecular biological results have been described elsewhere [11]. All the patients had CT scanning, MRI, angiography, scintigraphy and plain radiography performed.
Scintigraphic imaging of the patients' calvarium were performed immediately after intravenous injection of 740 MBq semi-in vivo labelled red blood cells with technetium-99m. Dynamic imaging was performed using a low energy all purpose collimator.
2 min images were performed in anterior and both lateral projections as well as late static views at 1 h post injection.
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Report of cases
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Case 1
A 22-year-old male was referred to the Department of Plastic and Reconstructive Surgery for correction of severe craniofacial asymmetry and deformity. Physical examination revealed diastasis recti and supra-umbilical raphe. He had initially been seen 15 years earlier. On examination painless expansion involving all of the craniofacial bones was present. There was severe expansion of the bony orbit on the left side leading to marked exophthalmia and vision loss. Severe deformity of the skull with protruded frontal bone was also present. Surgical curettage of the involved bones was performed but caused life threatening bleeding. A direct lateral and anteroposterior head roentgenogram demonstrated diffuse expansion of the craniofacial bones, coarse trabeculations, and a soap bubble appearance (Figure 1
). Axial CT sections of the head and neck region showed partial or total expansion of all of the craniofacial bones with loss of normal shapes, obliteration of paranasal sinuses and severe exophthalmia on the left side (Figure 2). Cortical thinning and cavern-like low density areas in the involved bones were seen. There was no soft tissue involvement. MRI revealed heterogeneous high signal intensity on unenhanced T1 weighted (T1W) images with multiple scattered round areas of low signal intensity in the involved bones. On post contrast T1W images, these cavern-like round areas showed homogeneous contrast enhancement (Figure 3). On T2W and fluid attenuated inversion recovery (FLAIR) images, high signal intensity of the involved bones was seen and the contrast enhancing cavern-like areas were homogeneously hyperintense (Figure 4). Cerebral angiography demonstrated bilaterally enlarged external carotid arteries with abnormal multilocular bony staining from its branches. On late phase images, there was pooling of contrast material (Figure 5). Scintigraphic demonstration of accumulation of radioactivity on early images with delayed wash-out, on the areas of abnormality seen on CT (Figure 6).
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Figure 1. (a) Direct lateral and (b) anteroposterior radiographs show expansion of all craniofacial bones, rarefaction, coarse trabecular pattern and "soap bubble" appearance (Case 1).
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Figure 2. (a) Axial CT sections in bone settings at the level of foramen magnum shows lytic expansion of the maxilla and paranasal bones, obliteration of the nasal cavity and mastoid cells on the left side and severe exophthalmia due to expansion of the bony orbit on the left. (b) CT section at the level of parietal bones shows marked increase in the diploic space and patchy cavern-like lucent areas (Case 1).
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Figure 3. (a) Coronal T1W cranial MRI demonstrates high signal intensity of the involved cranial bones with nodular cavern-like low signal intensity areas on the frontal bone and posterior part of the parietal bone. Involvement of the maxilla and mandible is also seen. (b) On post-contrast image of the same plane demonstrates contrast enhancement of these cavern-like nodular areas. Contrast enhancement of the involved maxilla and mandible is also seen (Case 1).
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Figure 4. Axial T2W cranial MR section at the level of centrum semiovales demonstrates high signal intensity characteristic of the involved cranial bones and indentations of expanded bones on brain parenchyma (Case 1).
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Figure 5. (a) Right external carotid arteriogram shows enlargement of the external carotid artery and its branches, multiple areas of abnormal staining of the craniofacial bones and (b) on late phase images, multiple areas of pooling of the contrast material (Case 1).
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Figure 6. 1st and 10th min anterior dynamic images with semi-in vivo labelled red blood cells by technetium-99m pertechnetate demonstrate accumulation of the radioactivity in multiple craniofacial bones mainly in the left orbital, maxillary and mandible regions.
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Case 2
The 14-year-old sister of Case 1 was admitted to the hospital with a similar history and symptoms of progressively increasing facial deformity, ectopic tooth eruptions and gingival bleeding. Physical examination revealed diastasis recti and supra-umbilical raphe similar to Case 1. Plain skull radiographs showed enlargement, deformity and soap bubble appearance with coarse trabeculations of maxilla and mandible. CT scan demonstrated diffuse involvement of mandible, maxilla, bilateral zygomatic bones and the left orbital plate of the frontal bone. CT, MRI, angiographic and scintigraphic findings were similar to Case 1. After diagnostic carotid angiograms (Figure 8), bilateral external carotid artery branches supplying the tumour were embolised with polyvinyl-alcohol (PVA) particles. After embolisation, a near total mandibulectomy was performed without significant blood loss.
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Figure 7. Haematoxylin-eosin stained pathological specimen (mandible, Case 2) demonstrates innumerable varying calibre vascular channels within bone tissue, with thinning of and decreased number of bony trabecula. The walls of the blood vessels were usually very thin, single cell layer and no muscular coat. (MB, mandibular bone; ICVC, innumerable calibre vascular channels).
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Figure 8. (a) Right external carotid arteriogram shows enlargement of the external carotid artery branches supplying the involved maxillofacial bones, abnormal staining of the involved bones and (b) contrast pooling on late phase images (Case 2).
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Case 3
The 12-year-old sister of Case 1 was admitted to hospital with similar history and symptoms of progressively increasing face deformity, ectopic tooth eruptions and gingival bleeding. Physical examination revealed diastasis recti and supra-umbilical raphe. CT scan of the head and neck showed diffuse severe expansion and deformity of mandible, maxilla, bilateral zygomatic bones and the body of the sphenoid bone. The maxillary sinuses were full of secretions, due to obliteration of the maxillary ostia. The bilateral orbital volumes were decreased (more severe on the right side) due to compression by the enlarged maxilla (Figure 9). MRI scans revealed mixed signal intensity of the involved bones on T1W images. On post-contrast T1W images, marked contrast enhancement was seen (Figure 10 a, b). The involved bones showed high signal intensity on T2W images. The angiographic and scintigraphic findings were similar to Case 1 and, consistent with intraosseous vascular malformation.
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Figure 9. Coronal reconstruction of the CT scan demonstrates severe expansion of the maxillae and zygomatic bones, obliteration of nasal cavity, obliteration of maxillary sinuses due to secretions, and decrease of the orbital volumes (Case 3).
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Figure 10. (a) Axial T1W MRI of the mandible shows mixed signal intensity of the expanded and deformed mandible. (b) On post-contrast image, marked contrast enhancement is seen (Case 3).
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Case 4
A 14-year-old boy, with no relationship to the other cases, was admitted to hospital for investigation after a life threatening gingival haemorrhage after tooth extraction, and severe anaemia and growth retardation. On physical examination, severe maxillofacial contour deformity due to painless expansion of the maxilla and mandible, ectopic tooth eruption, impaction and displacement, marginal gingival bleeding, diastasis recti and supra-umbilical raphe was seen. CT scan of the head and neck showed diffuse, severe expansion and deformity of the mandible, maxilla, body of the sphenoid bone, clivus and petrous part of the temporal bones. The maxillary sinuses were full of secretions bilaterally, due to obliteration of the maxillary ostia. MRI revealed heterogeneous low signal intensity of the involved bones on T1W images. On post-contrast T1W images, contrast enhancement was seen. The involved bones showed high signal intensity on T2W images. The scintigraphic findings were similar to the other cases. Angiographic findings were also similar and consistent with osseous vascular malformation. But additionally, internal carotid arteriogram revealed bilateral ophthalmic internal carotid artery aneurysms.
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Discussion
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The cases reported here represent unique characteristics such as familial occurrence, confinement to maxillofacial region until puberty and then involvement of all bones of the cranium with a rapid expansion, and total involvement of the affected bone rather than focal lesions. Direct radiographic findings of our patients were similar to the findings reported osseous haemangioma in the literature [12]. The "sunburst" appearance due to radiating trabecula on tangential views and "soap bubble" appearance due to multilocular regions of rarefaction were seen on radiographs [12, 13]. CT scan more precisely demonstrates the involved bones. CT showed primarily lytic, variably expansile lesions with lattice-like coarse trabecular pattern, which were similar to the CT findings of extraspinal osseous haemangiomas reported by Wenger and Wold [12].
MRI findings of vertebral haemangiomas are considered to be characteristic, and they exhibit high signal intensity on T1 and T2W images owing to the presence of fat [12]. MRI features of extraspinal osseous haemangiomas are not well-defined. Khanam et al have reported two cases of calvarial haemangioma with MRI findings of mixed signal intensity on T1W images, high signal intensity on T2W images, and contrast enhancement [1]. Also in our series, all patients showed mixed signal intensity on T1W images (Figures 3, 10
). Local or diffuse contrast enhancement was another MRI finding reflecting the vascularity of the tumour. Early accumulation of radioactivity with delayed wash-out at the involved areas on the radionuclide study with 99Tcm labelled red blood cells, was also consistent with hypervascularity of the tumour.
Burrows et al suggest that haemangiomas and vascular malformations can be differentiated with angiographic findings [14]. The authors reviewed the pre-operative angiograms of 14 children who had cellular analyses of soft tissue vascular lesions and concluded that haemangiomas appear angiographically as organized, gland-like vascular neoplasms with staining of a "parenchymal" component while vascular malformations consists of collections of abnormal vessels without a "parenchymal" mass [14]. In the English literature, angiographic findings of osseous vascular malformations are not clearly defined. In all of our patients, angiograms showed enlargement of the external carotid artery and abnormal multifocal bony staining due to pooling of contrast in the ectatic vascular spaces consistent with slow-flow in a vascular malformation.
Although there is a wide variety of imaging modalities, absolute differentiation of a haemangioma from a vascular malformation is not possible, and histopathological examination is required.
The differentiation of a vascular tumour from a vascular malformation is therapeutically important. Soft tissue haemangiomas being the result of abnormal cellular proliferation, often respond to treatment with corticosteroids and radiotherapy. It is not known whether these treatment options are also effective for bony haemangiomas. Vascular malformations are stable cellular lesions, and therapeutic approaches include percutaneous catheter embolisation and surgical resection in selected patients as in Case 2 [15, 16]. Histopathological examination of surgical specimens of 3 of our cases (Cases 1, 2, and 4) demonstrated intraosseous saccular blood vessel expansions (data not shown). A surgical specimen was not obtained from Case 3. Endothelial cell characteristics (no proliferation present) and mast cell counts (not increased) were consistent with vascular malformations [11].
Received for publication January 6, 2003.
Revision received August 4, 2003.
Accepted for publication November 20, 2003.
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References
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Abstract
Introduction
