Ossifying fibroma (OF) and fibrous dysplasia (FD) are two fibro-osseous lesions with overlapping clinicopathological features, making diagnosis challenging. In this study, we applied a whole-genome shallow sequencing approach to facilitate differential diagnosis via precise profiling of copy number alterations (CNAs) using minute amounts of DNA extracted from morphologically correlated microdissected tissue samples. Freshly frozen tissue specimens from OF (n = 29) and FD (n = 28) patients were obtained for analysis. Lesion fibrous tissues and surrounding normal tissues were obtained by laser capture microdissection (LCM), with ~30-50 cells (5 000-10 000 µm
DNA Copy Number Variations ; Diagnosis, Differential ; Fibroma, Ossifying/genetics* ; Fibrous Dysplasia of Bone/genetics* ; Galactosyltransferases ; Humans ; Jaw ; Neoplasm Recurrence, Local ; Nuclear Proteins

Fibrous dysplasia (FD) is a non-malignant bone tumor that typically behaves as a slow and indolent growing mass lesion. We report the case of a female patient presenting with headache and facial deformity and later diagnosed with polyostotic fibrous dysplasia (PFD). A 29-year-old woman visited Mealhada Primary Health Care Unit complaining of headache, nasal congestion, and hyposmia for several weeks. She also presented with facial deformity and painful swelling of the upper left orbit. X-ray imaging revealed a suspicious opacity in the left frontal sinus and a right shift of the nasal septum. Computed tomography and bone scintigraphy later confirmed a tumor involving the ethmoid and frontal bone. The patient was referred to the neurosurgery and otorhinolaryngology departments of a central hospital and the suspected diagnosis of PFD was confirmed. A watchful waiting approach with regular imaging screenings was proposed and accepted by the patient, who is now free of symptoms and more acceptant of the benign condition of her tumor. With this case, we aim to make family physicians more aware of this rare but relevant condition that can be difficult to diagnose. FD is a rare but benign tumor that occurs mainly in adolescents and young adults. Symptoms depend on the location and type of the tumor and include facial deformity, vision changes, nasal congestion, and headache. No clear guidelines exist for its treatment, and options include monitoring the progression of the tumor, in addition to medical or surgical approaches.
Adolescent ; Adult ; Bone Neoplasms ; Congenital Abnormalities ; Diagnosis ; Estrogens, Conjugated (USP) ; Female ; Fibrous Dysplasia of Bone ; Fibrous Dysplasia, Polyostotic* ; Frontal Bone ; Frontal Sinus ; Headache ; Humans ; Mass Screening ; Nasal Septum ; Neurosurgery ; Orbit ; Otolaryngology ; Physicians, Family ; Primary Health Care* ; Radionuclide Imaging ; Watchful Waiting ; Young Adult

Fibrous dysplasia of the spine is very rarely observed. We reported a case of a 57-year-old woman, who presented with neck and bilateral shoulder pain with histologically confirmed fibrous dysplasia, involving the first and second thoracic vertebrae. Clinical and radiological findings were not specific for fibrous dysplasia. The histological biopsy was required for a confirmed diagnosis. Endocrine and metabolic evaluations are required to rule out diseases such as hyperthyroidism, Cushing syndrome and osteomalacia. Fibrous dyplasia can be managed by appropriate medical and surgical treatments based on the patient's neurological status and symptoms. Our patient was given intravenous pamidronate 60mg/day for 3 days. After 9 months, her initial symptoms were improved, but computed tomography scan of the thoracic spine showed no change of the lesions.
Biopsy ; Cushing Syndrome ; Diagnosis ; Female ; Fibrous Dysplasia of Bone ; Fibrous Dysplasia, Polyostotic* ; Follow-Up Studies* ; Humans ; Hyperthyroidism ; Middle Aged ; Neck ; Osteomalacia ; Shoulder Pain ; Spine* ; Thoracic Vertebrae

Fibrous dysplasia is a benign, bony abnormality that is usually asymptomatic. A 41-year-old male with minimal symptoms presented at this hospital with abnormal findings incidentally seen in his ribs on the chest radiograph. A skeletal survey showed numerous, osteolytic lesions throughout multiple bones. Diagnostic processes for malignancy of undefined primary origin (MUO) were performed in order to identify the underlying primary neoplasm, although abnormal findings were not seen except for multiple bone lesions. A computed tomography guided bone biopsy was performed on his left rib. The final diagnosis was fibrous dysplasia. This case demonstrates that fibrous dysplasia should be considered in the differential diagnosis in young patients with multiple, osteolytic lesions and without a prior history suggesting malignancy.
Adult ; Biopsy ; Bone Neoplasms ; Diagnosis ; Diagnosis, Differential ; Fibrous Dysplasia, Polyostotic* ; Humans ; Male ; Neoplasm Metastasis* ; Radiography, Thoracic ; Ribs

A 65-year-old male presented with a 3-year history of orbital symptoms. An imaging-based diagnosis of fibrous dysplasia involving the skull base was made at another institution. CT showed a diffuse sinonasal mass and ground-glass appearance of the bones of the anterior skull base with bony defects and mucocele formation. MRI demonstrated an accompanying intracranial and orbital rind of soft tissue mass along the hyperostotic bones. FDG-PET showed corresponding intense hypermetabolism. Small cysts were observed at the tumor-brain interface. Biopsy revealed esthesioneuroblastoma with bone infiltration that is compatible with the hyperostotic variant of esthesioneuroblastoma. There are a few cases of hyperostotic esthesioneuroblastoma reported in the literature.
Aged ; Fatal Outcome ; Fibrous Dysplasia of Bone/*diagnosis ; Humans ; Hyperostosis/*diagnosis ; Magnetic Resonance Imaging ; Male ; Neuroblastoma/*diagnosis ; Positron-Emission Tomography ; Skull Neoplasms/*diagnosis ; Tomography, X-Ray Computed

The distinction of some particular forms of periapical area, involving diseases from regular periapical disease, is a matter of considerable importance when choosing a correct treatment. The aim of this study is to describe the differential diagnosis of periapical diseases from six rare cases in clinical practice. The six rare cases are examples of situations where it is difficult to make a differential diagnosis in clinical practice. By retrospective surveys on the clinical examination, radiographs and pathological results, six patients referred to endodontic treatment in our department were analyzed for the accuracy of diagnosis and therapy. The pathoses of the six cases included two atypical radical cysts, periapical cemental dysplasia, cemento-ossifying fibroma, thymus cancer metastasis in the periapical site and tuberculosis. This report indicates that endodontists should be cognizant of a few particular circumstances when clinically treating periapical diseases.
Adult ; Aged ; Bone Neoplasms ; diagnosis ; secondary ; Diagnosis, Differential ; Female ; Fibroma, Ossifying ; diagnosis ; Fibrous Dysplasia of Bone ; diagnosis ; Humans ; Male ; Middle Aged ; Periapical Diseases ; diagnosis ; Radicular Cyst ; diagnosis ; Tuberculosis, Osteoarticular ; diagnosis

Diagnosis, Differential ; Femur ; Fibrosarcoma ; metabolism ; pathology ; Fibrous Dysplasia of Bone ; diagnosis ; diagnostic imaging ; metabolism ; pathology ; surgery ; Follow-Up Studies ; Humans ; Leg ; Liposarcoma, Myxoid ; metabolism ; pathology ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Muscle Neoplasms ; diagnosis ; diagnostic imaging ; metabolism ; pathology ; surgery ; Myxoma ; diagnosis ; diagnostic imaging ; metabolism ; pathology ; surgery ; Neurilemmoma ; metabolism ; pathology ; Neurofibroma ; metabolism ; pathology ; Syndrome ; Tomography, X-Ray Computed ; Vimentin ; metabolism ; beta Catenin ; metabolism

OBJECTIVEto study the clinicopathologic features and differential diagnosis of low-grade central osteosarcoma (LGCOS).

METHODSnine cases of LGCOS were retrieved from the archival consultation files. The clinical, radiologic and pathologic features were analyzed, with literature review.

RESULTSthe mean age of the patients was 31 years. The male-to-female ratio was 3:6. All of the patients presented with painful mass and/or swelling. The sites of involvement included thigh (n = 4), tibia (n = 1), fibula (n = 1), cervical vertebra (n = 1), lumbar vertebra (n = 1) and maxilla (n = 1). Radiologic examination showed mixed lytic/blastic lesions with soft tissue shadow in 5 cases and associated periosteal reaction in 3 cases. The tumors were treated by surgical excision, with no adjuvant therapy given. The duration of follow up ranged from 2 to 43 months. Four cases had recurrence which occurred at 8 to 25 months after the operation. Gross examination showed that the tumors were fragmented on submission in 5 cases and en bloc in 4 cases. They had solid and firm cut surface, with various degree of grittiness. Histologically, LGCOS was characterized by the presence of hypocellular fibroblastic stroma associated with focal osteoid production. The spindly tumor cells showed mild degree of nuclear pleomorphism, with occasional mitotic figures demonstrated in all of the 9 cases. The newly formed neoplastic woven bone did not have any osteoblastic rimming. The bony trabeculae were slender and seam-like. Parallel arrays of woven bone were seen in 6 cases. Some of the bony trabeculae appeared irregularly branched and curved. The tumor cells permeated adjoining pre-existing bony trabeculae and bone marrow in all cases. Three cases also showed soft tissue involvement.

CONCLUSIONSLGCOS often posses important diagnostic pitfalls due to the relatively bland-looking tumor cell morphology and associated large woven or longitudinal seams of lamellar-like bone. Thorough understanding of the histologic features, when coupled with clinical and radiologic findings, are essential in arriving at a correct diagnosis.

Adolescent ; Adult ; Bone Neoplasms ; diagnostic imaging ; pathology ; surgery ; Diagnosis, Differential ; Female ; Fibrous Dysplasia of Bone ; pathology ; Fibula ; diagnostic imaging ; Histiocytoma, Benign Fibrous ; pathology ; Humans ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Neoplasm Recurrence, Local ; Osteosarcoma ; diagnostic imaging ; pathology ; surgery ; Radiography ; Radionuclide Imaging ; Reoperation ; Thigh ; diagnostic imaging ; pathology ; Young Adult

Albright's hereditary osteodystrophy (AHO) has a broad spectrum of physical findings, including short stature, flattened nasal bridge, round facies, obesity, skeletal anomalies of the hands with brachydactyly, osteoma cutis, mental retardation, dental defects, cataracts, and calcification in the basal ganglia. It also includes endocrinologic abnormalities such as pseudohypoparathyroidism and pseudopseudohypoparathyroidism. Primary osteoma cutis, which can precede other physical findings of AHO, might be a diagnostic clue for AHO. Therefore, close follow-up and regular laboratory tests should be done to detect the early development of AHO in young children with primary osteoma cutis. Early diagnosis and treatment of AHO can prevent irreversible mental retardation and developmental delay.
Basal Ganglia ; Bone Diseases, Metabolic ; Brachydactyly ; Cataract ; Child ; Early Diagnosis ; Facies ; Fibrous Dysplasia, Polyostotic ; Hand ; Humans ; Intellectual Disability ; Obesity ; Ossification, Heterotopic ; Osteoma ; Pseudohypoparathyroidism ; Pseudopseudohypoparathyroidism ; Skin Diseases, Genetic

OBJECTIVE: To study the clinical manifestation, radiograph features, pathology, diagnosis and treatment of fibrous dysplasia in cranial bone. METHOD: A case of fibrous dysplasia involving sphenoid and occipital is reported and literature were reviewed. RESULT: The most common complaint were headache, proptosis, diplopia, or visual changes. Distinguishing features of fibrous dysplasia on CT include "ground-glass" appearance, bone fiber anisotrophy, aneurysmal bone cyst formation and thickness of the cranial cortices. Fibrous dysplasia could be exactly diagnosed by pathology. Computed tomography was also a choice for diagnosis. CONCLUSION Fibrous dysplasia involving the cranial bone can present in myriad ways. Modern imaging modalities and histopathologic analysis is required to make accurate diagnosis. Surgery, particularly in a challenging region such as sphenoid and occipital bone, should preserve the existing function for the patients with functional impairment or a cosmetic deformity.
Adult ; Fibrous Dysplasia, Polyostotic ; diagnosis ; diagnostic imaging ; pathology ; Humans ; Male ; Occipital Bone ; Radiography ; Sphenoid Bone