A Case Report of Craniofacial Intraosseous Xanthoma in a Patient Seeking Facial Feminization Surgery.

BACKGROUND: Fibrous dysplasia (FD) is a benign developmental disorder of the bone that causes normal skeletal tissue to be replaced by excess fibrous tissue and poorly differentiated osteoblasts. Intraosseous xanthomas are benign intraosseous tumor growths characterized microscopically by the presence of lipid-laden foamy histiocytes, often with cortical expansion or disruption. Although FD commonly occurs in craniofacial bones, primary intraosseous xanthomas of the skull or facial skeleton are extremely rare. Although 2 distinct conditions, each may be difficult to differentiate on CT imaging when occurring in the facial skeleton. METHODS: We report a case of an incidental finding on craniofacial CT of a frontal bone lesion originally thought to be FD. The finding was in a 55-year-old transgender woman who was assigned male at birth before receiving multiprocedural facial feminization surgery. RESULTS: The clinical features, radiological findings, and treatment are discussed. Postoperatively, the patient had no sequelae secondary to facial feminization surgery or to the orbital lesion biopsy procedure. Bone graft appeared stable on CT imaging, although FD did not appear to resolve completely. CONCLUSIONS: Diagnosis of such lesions is challenging and may require both radiographic and histopathologic assessment. As in the case of this patient, intraosseous xanthomas may also be misdiagnosed as other benign lesions such as FD. In most known cases, surgical intervention leads to complete resolution without recurrence of the lesion.

Isolated infantile myofibroma of the calvarium: Report of a case with a literature review.

OBJECTIVE: Infantile myofibromatosis is a rare entity of childhood characterized by benign myofibroblastic tumors in the soft tissues, the bones, and occasionally the viscera. Solitary skeletal lesions are relatively uncommon. Calvarial involvement should be distinguished from more aggressive tumors for appropriate treatment. METHODS: We reviewed solitary infantile myofibroma of the calvarium and discussed the relevant computed tomography and magnetic resonance imaging findings along with differential diagnosis. A case study of the frontal bone in a 5-month-old girl was also presented. RESULTS: Fourteen cases were reviewed, including the current case. Of the 13 cases with known sex, eight were male and five female. The mean age was 3.03 with an age range of 0.41-9 years. Nine of the 14 tumors were in the frontal bone. The lesions were intradiploic with tabula interna and/or externa of the calvaria involvement. The mean largest diameter was 22.3 mm. Upon computed tomography, all the lesions were expansile and lytic, and hypoattenuated, isoattenuated or occasionally hyperatenuated. Calcification was not seen. On magnetic resonance imaging, most neoplasms were hypointense on T1-weighted and T2-weighted images. Neoplasms showed hypointense signal on diffusion-weighted imaging and hyperintense on apparent diffusion coefficient, without restricted diffusion in three cases. All lesions were intensely enhanced after gadolinium administration. Treatment was total surgical resection and recurrence was not observed during follow-up. CONCLUSIONS: Infantile myofibromas are rare, typically intradiploic expansile lytic lesions with tabula interna and/or externa involvement. Distinctive imaging features include the presence of hipointense signals on T2-weighted magnetic resonance images without restricted diffusion on diffusion-weighted imaging. A slow-growing, firm, painless, and nontender mass with supportive imaging findings should raise suspicion of the disease.

Secondary aneurysmal bone cyst of the frontal bone with fibrous dysplasia showing rapid expansion: a case report.

A 19-year-old woman presented with swelling of the left forehead without pain. She did not have any relevant past or family history. Computed tomography showed destruction of the outer cortex of the frontal bone. A solitary mass lesion with a fluid collection was detected with magnetic resonance imaging. Because the swelling of the left forehead had enlarged rapidly with osteolytic changes, surgical removal of the lesion was performed. The lesion appeared to be enveloped in a fibrous capsule. The soft lesion was removed from the frontal bone. The outer frontal bone was absent, although the inner frontal bone was preserved. Then, the frontal bone was resected with margins from the edge of the erosion. The dura mater under the lesion was intact. A cranioplasty was performed using titanium mesh. On histological examination, the trabecular bones revealed irregular shapes and arrangements, indicating fibrous dysplasia. There was a continuous high-cell-concentration pathological lesion outside the fibrous dysplasia. There were numerous cells, such as mononuclear cells, osteoclast-like multinucleated giant cells, foam cells, and red blood cells. The osteoclast-like multinucleated giant cells and other cells did not show significant nuclear atypia. Immunostaining with H3.3G34W was negative, and the ubiquitin-specific peptidase 6/Tre-2 gene showed no rearrangements. The histopathological diagnosis was secondary aneurysmal bone cyst with fibrous dysplasia. Additional postsurgical therapy was not performed. There has been no evidence of recurrence of the lesion for two years.

Intraosseous malignant peripheral nerve sheath tumor at the frontal bone in a child: a rare cause of proptosis.

We report a nine-year-old male having malignant peripheral nerve sheath tumor (MPNST) of the frontal bone, represented with a twelve-month history of ptosis and proptosis in his right eye and enlarged rapidly in the last three months. Except for slight numbness at his one-third of the right forehead, he had no neurological deficit. The patient's both eyes were having normal eye movements, and he had no visual acuity or field loss. After surgery, we observed the patient with no recurrence for 4 years.

Heterotopic Ossification Bone Formation in the Frontal Bones of an African Grey Parrot (Psittacus erithacus).

A 5-year-old, male African grey parrot (Psittacus erithacus) was presented with multiple, slow-growing, firm, bilateral masses around the dorsal orbital rims. Computer tomographic imaging revealed mild, incomplete bridging bone formation on the rostrodorsal aspects of the head. A moderate amount of smooth bone formation was identified at the rostrodorsal aspect to the left orbit, with minimal associated soft tissue swelling. Surgical biopsies were collected from the masses and histopathological analysis of the most rostral right mass showed well-differentiated bone, surrounded by dense fibrous connective tissue. Scattered, well-differentiated osteocytes were present within the bone. No evidence of neoplastic changes or infectious agents were identified. The histopathological changes were consistent with metaplastic bone formation. History obtained from the owner revealed recent head trauma, which likely induced the cranial heterotopic ossification in the African grey parrot.

Frequency of hyperostosis frontalis interna in patients with active acromegaly: is there a possible role of GH excess or hyperprolactinemia in its etiopathogenesis?

PURPOSE: Acromegaly is characterized by bone changes due to excessive growth hormone (GH) secretion. Hyperostosis frontalis interna (HFI) is described as an overgrowth in the inner plate of the frontal bone. An increased incidence of HFI has been reported in patients with acromegaly. Since the etiology of HFI is poorly understood, we have analyzed whether there is a relationship between the hormonal and metabolic status of patients with acromegaly (with or without hyperprolactinemia) and the pathogenesis of HFI. METHODS: Forty-five patients with acromegaly and two control groups consisting of 25 patients with prolactinoma (group 1) and 47 healthy subjects (group 2) were included in this retrospective study. Baseline hormonal data and cranial imaging were obtained from medical records and analyzed. RESULTS: Mean frontal bone thickness was 6.75 mm in acromegaly, 4.85 mm in group 1, and 5.1 mm in group 2 of controls (p < 0.001). The frequency of HFI was higher in acromegalic patients than in the controls (22%, 0%, and 2.2%, respectively). There was no difference between the HFI positive and negative acromegalic patients in basal GH, IGF-1, and PRL levels, IGF-1 index, diagnosis lag time, and insulin resistance. There was no difference between groups regarding parietal and occipital bone thickness. CONCLUSION: Although the frequency of HFI is 22% in patients with acromegaly, neither excess GH nor hyperprolactinemia plays a role in its etiopathogenesis. Various genetic or epigenetic factors may contribute to its etiology.

Frontal Bone Osteomyelitis in Adult.

Frontal bone osteomyelitis is a rare clinical disease which occurs as a result of frontal sinusitis, penetrating injury on head, post-operative complication after sinus surgery and hematogenous spread from distant site. Early diagnosis, appropriate surgical debridement and antibiotic are keys to prevent from life threatening intracranial complications. We report a 63 years old male patient with osteomyelitis of outer cortex of frontal bone. The wound was thoroughly debrided after computer tomography scan showed an osteolytic lesion on outer table of fontal bone and antibiotic was continued for 2 months until inflammatory markers become normal. Keywords: Frontal bone; Intracranial complications; osteomyelitis; pott's puffy tumour.

Resolution of persistent traumatic supraorbital pain after neuroma excision.

We describe a case of an 18-year-old male who developed a supraorbital neuroma following facial trauma that occurred 2 years earlier. He presented with complaints of persistent facial pain and migraines despite successful laceration repair and removal of foreign bodies at the time of injury. A non-contrast computed tomography (CT) scan of the orbits revealed an enlarged supraorbital nerve with remodeling and expansion of the supraorbital notch, suggesting a neuroma. The patient underwent orbitotomy with excision of neuroma (confirmed histologically) and experienced a complete resolution of periorbital pain.

Skull shape abnormalities in ischemic cerebrovascular and mental diseases in adults.

Morphological changes in the child skull due to mechanical and metabolic stimulation and synostosis of the suture are well known. On the other hand, few studies have focused on clinical conditions relevant for adult skull deformity. We retrospectively reviewed computed tomography (CT) findings obtained from 365 cases that were treated for head injuries, moyamoya disease, cervical internal carotid artery stenosis, and mental diseases, and investigated the morphological changes in the skull associated with these diseases. The findings from head injuries were used not only for control subjects, but also for the analysis of generational changes in skull shape based on birth year. Head shape had a brachiocephalic tendency with occipital flattening in people born from the 1950s onwards. Cases of moyamoya disease, cervical internal carotid artery stenosis, and mental diseases showed significantly thicker frontal and occipital bone than those of control subjects. The skull thickening was especially noticeable in the frontal bone in moyamoya disease. Plagiocephaly was significantly frequent in moyamoya disease. These uncommon skull shapes are useful CT findings in screening subjects for early evidence of mental diseases and intracranial ischemic diseases with arterial stenosis.

Computer-Aided Design and Manufacturing versus Conventional Surgical Planning for Head and Neck Reconstruction: A Systematic Review and Meta-Analysis.

BACKGROUND: Virtual surgical planning and computer-aided design/computer-aided manufacturing (CAD/CAM) for complex head and neck reconstruction has a number of cited advantages over conventional surgical planning, such as increased operative efficiency, fewer complications, improved osseous flap union, immediate osseointegrated dental implant placement, and superior functional and aesthetic outcomes. The authors performed a systematic review and meta-analysis of the available evidence on CAD/CAM maxillofacial reconstruction with the primary purpose of determining which approach is more efficacious. METHODS: In accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines, a PubMed and Embase database search was performed to identify English-language, human-subject studies of CAD/CAM-assisted head and neck reconstruction. All comparative studies were included in a meta-analysis to identify differences in operative time, ischemia time, surgical-site occurrence, microvascular complication, and partial or total flap loss between the two groups. All included studies (comparative and noncomparative) were used in the systematic review, summarizing the various flap characteristics, technical nuances, and functional and aesthetic outcomes. RESULTS: Twelve articles were included in the meta-analysis, representing 277 patients in the CAD/CAM group and 419 patients in the conventional group. CAD/CAM was associated with 65.3 fewer minutes of operating room time (95 percent CI, -72.7 to -57.9 minutes; p < 0.0001) and 34.8 fewer minutes of ischemia time (95 percent CI, -38 to -31.5 minutes; p < 0.0001). There were no significant differences in surgical-site occurrence, nonunion, flap loss, microvascular complications, or hardware-related complications. CONCLUSIONS: CAD/CAM is associated with shorter operating room and ischemia times. There are no significant differences in flap or hardware-related complications between CAD/CAM and conventional surgical planning.

A rare case of hyperostosis frontalis interna in an 86-year-old Japanese female cadaver.

Hyperostosis frontalis interna (HFI) is a condition characterized by abnormal bone outgrowth on the inner surface of the frontal bone. Most HFI cases occur in post-menopausal elderly women. The pathology of HFI development is uncertain. The estimated incidence of HFI ranges from 5 to 12% in Western countries, but few cases have been reported in the Japanese population. Here, we report a case of HFI in an 86-year-old Japanese female cadaver. Macroscopically, the internal surface of the frontal bone exhibited bilateral nodular protrusion with sparing of the midline, while the external surface was normal. According to the morphological classification of HFI proposed by Hershkovitz et al. this case belongs to type D, the most severe type. Using computed tomography (CT), we defined five layers, designated as I-V from the inner to the outer layer, in the nodular region of HFI; however, the normal frontal bone is composed of three layers. Histological results demonstrated that layers I, III, and V consisted of the cortical bone, and layers II and IV consisted of the trabecular bone. We also observed increases in the numbers of lamellar bone and blood vessels on the dural side of layer I, indicating increased vascularization and active osteogenesis. These results indicate that layer II represents a new diploe within the inner table, which split into layers I and III, suggesting that diploization within the inner table by activated remodeling may be involved in the development of hyperostosis in this case.

Autopsy or anatomical dissection: evidence of a craniotomy in a 17th-eighteenth century burial site (Ravenna, Italy).

Surgical procedures undergone in life, autopsies and anatomical preparations can all leave clearly identifiable traces on human skeletal remains. Several studies on skeletons from archeological contexts have identified traces of these practices. However, the distinction between medical/forensic autopsy and anatomical dissections for scientific research can be challenging. We report the case of a middle-aged female skeleton from the cemetery of the church of San Biagio (Ravenna, Italy), dating back to the 17th-19th centuries, that shows signs of a complete craniotomy. In an attempt to clarify the reason for this practice, we analyzed all pathological and non-pathological markers on the skeleton. We carried out anthropological analyses and osteometric measurements to determine the biological profile and the cranial capacity of the individual. Paleopathological investigation and analyses of traumatic injury patterns were carried out using both a morphological and a microscopic approach. While we observed that the craniotomy was performed with a rip saw, we identified perimortem blunt force trauma to the frontal bone and an osteolytic lesion on the inner surface of the frontal bone. No other pathology was recognizable on the skeleton. Our differential diagnosis confidently proved that the craniotomy was due to an autoptsy procedure and was not the result of an anatomical dissection. We believe that, among other possible reasons, failed surgery could likely be the motive behind the ordering of the autopsy.

Comparative Analysis of Femoral Macro- and Micromorphology in Males and Females With and Without Hyperostosis Frontalis Interna: A Cross-Sectional Cadaveric Study.

We hypothesized that subjects with hyperostosis frontalis interna (HFI), which represents local, endocranial thickening of the frontal bone, would express extra-calvarial manifestations of this condition. Therefore, we compared femoral bone mineral density, geometry, and microarchitecture of males and females with HFI to those without this condition as well as between males and females with HFI. The sample was taken from human donor cadavers, 38 males (19 with and 19 without HFI) and 34 females (17 with and 17 without HFI) that were age-matched within the same sex. The specimens of femoral bones were scanned using microcomputed tomography and dual-energy X-ray absorptiometry (DXA). Parameters of hip structure analysis (HSA) were calculated from data derived from DXA scans. Females with HFI had increased cortical bone volume fraction and their cortical bone was less porous compared to females without HFI. Males with HFI showed microarchitectural differences only with the trabecular bone. They had increased bone volume fraction and decreased trabecular separation compared to males without HFI, although with borderline significance. These microarchitectural changes did not have significant impact on femoral geometry and bone mineral density. The same, still unknown etiological factor behind HFI might be inducing changes at the level of bone microarchitecture at a remote skeletal site (femoral bone), in both sexes. These alterations still do not have the magnitude to induce obvious, straightforward overall increase of bone mineral density measured by DXA. HFI could be a systemic phenomenon that affects both males and females in a similar manner.

Multilobular tumor of bone on the forehead of a guinea pig.

Multilobular tumor of bone (MLTB) is an infrequent, slow-growing, bone neoplasm formed predominantly on the head. These tumors can behave as malignant neoplasms clinically and pathologically and can metastasize occasionally. No cases of MLTB in rodents have been reported, to our knowledge. We describe a novel case of an MLTB in a guinea pig. An adult guinea pig had an exophytic mass fixed on the frontal bone, maxilla, and nasal bone. On radiography, the mass had a spherical contour and variable density and was formed on the surface of the cranial bones. The mass was excised surgically. The cut surface was light-yellow to milky-white and had a granular texture with fine fibrous septa. Histologically, the neoplasm had a multilobular pattern, which consisted of many islands of bone and/or cartilage matrix surrounded by small cells and separated by fibrous septa, which closely resembles the equivalent neoplasm in dogs.

Micro-computed Tomography Study of Frontal Bones in Males and Females with Hyperostosis Frontalis Interna.

Hyperostosis frontalis interna (HFI) represents irregular thickening of the endocranial surface of the frontal bone, mostly seen in postmenopausal females. The microarchitecture of this condition is poorly studied. The aim of this cross-sectional autopsy study was to investigate and compare microarchitectural structure of the frontal bone affected with HFI in both sexes and to test whether HFI severity could be distinguished at the microarchitectural level. The sample was taken from human donor cadavers, 19 males (61 ± 15 years old) and 17 females (75 ± 15 years old). After classification of HFI severity (type A, B, C or D), samples of the frontal bone were taken and scanned using micro-computed tomography. Bone volume fraction was higher and total porosity lower only in the outer table of males with HFI, compared to females with HFI. Mean total sample thickness differed only between males with HFI type A and D. Bone microarchitecture between males and females with corresponding HFI types (e.g., male with type A versus female with type A) differed only in HFI type C regarding the fractal dimension of diploe. The degree of anisotropy differed between HFI subtypes in males, but the post hoc analysis revealed no significant differences between individual groups. Other microarchitectural parameters did not differ among males with different HFI subtypes, as well in females, in any part of the frontal bone. There is no difference in microarchitectural structure of the frontal bone between males and females with HFI, in general aspect and within corresponding HFI subtypes. HFI severity could not be distinguished at the microarchitectural level, neither in males nor in females.

Epithelioid and spindle cell rhabdomyosarcoma with FUS-TFCP2 or EWSR1-TFCP2 fusion: report of two cases.

The WHO Classification of Tumors of Soft Tissue and Bone divides rhabdomyosarcoma (RMS) into alveolar, embryonal, pleomorphic, and spindle cell/sclerosing types. Advances in molecular diagnostics have allowed for further refinement of RMS classification including the identification of new subtypes. Very rare RMS with epithelioid and spindle cell morphology, female predominance, marked osseous predilection, ALK expression, EWSR1/FUS-TFCP2 gene fusions, and highly aggressive clinical behavior have recently been recognized with only 23 cases reported in the English language literature. Herein, we report two additional cases with detailed clinicopathologic description and molecular confirmation. In brief, two young women presented each with a primary bone tumor-one with a frontal bone tumor and another with an osseous pelvic tumor. Both tumors showed epithelioid to spindle cell morphology, ALK expression, and EWSR1/FUS-TFCP2 gene fusions. Both patients died of disease less than 17 months from diagnosis despite administration of multiple lines of aggressive treatment. In addition, we review the literature and discuss differential diagnostic and potential treatment considerations.

Radiological evaluation of Hyperostosis frontalis interna: is it of clinical importance?

Hyperostosis frontalis interna (HFI) presents irregular thickening of the frontal bone. Even though HFI is frequently seen during routine radiological imaging, it usually remains unrecorded owing to a common belief that it just represents an incidental finding or anatomical variant. Recent studies implied that HFI may be clinically relevant. Etiology of HFI is still debated, while presumptions are mainly based on altered sex steroids impact on skull bone growth. Some authors implied that frontal bone might be particularly affected by this condition due to specificity of its underlying dura. In this paper we present a 27-years old female patient with a treatment resistant headache. Head CT showed massive, irregular bony mass, with lobulated contours arising from the right frontal bone, but did not cross the fronto-parietal suture, spearing the superior sagittal sinus and skull midline. After surgery, histopathological analysis of the frontal bone sample in our patient showed thickening pattern similar to those described in micro-CT studies of HFI. Furthermore, in an attempt to test speculation of the possible role of estrogen in pathogenesis of HFI, we investigated the expression of α-estrogen receptors on dura of the frontal region. These analyses confirmed nuclear expression of estrogen on frontal region dural tissue, supporting previous speculation of the development mechanisms of HFI and contributing to a better understanding of this common condition of the frontal bone. Additionally, the presence of HFI may result in severe symptomatology, which could be misinterpreted and related to other disorders if HFI is not radiologicaly recognized and reported.

A rare case of orbital tuberculosis with cold abscess and frontal bone lesion.

Tuberculosis is a multisystem infectious disease caused by Mycobacterium tuberculosis and a leading infectious cause of morbidity and mortality worldwide. Orbital tuberculosis is a rare form of extra pulmonary tuberculosis, even in endemic areas. It may involve the soft tissue, lacrymal gland, periosteum, or bones of the orbital wall and can extend to adjacent paranasal sinuses or intracranial cavities. The delay in diagnosis can be due to the fact that the clinical signs simulate any inflammatory disease. The diagnosis is usually based on tissue examination in histopathological evidence presenting as granulomatous lesion or presence of acid fast bacilli (AFB). The long term anti tuberculosis therapy is the effective treatment. Here we present the case of orbital tuberculosis on a young man operated in our department and who had a good outcome under anti tuberculosis drugs for 12 months.