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J Bone Miner Res 2020 Jul 9. Epub 2020 Jul 9.

Skeletal Diseases and Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, Maryland.

Optic neuropathy (ON) is a highly disabling complication of fibrous dysplasia (FD). The optimal test for identifying and monitoring ON in FD is unknown. Optical coherence tomography (OCT) is an imaging modality that detects retinal nerve fiber layer (RNFL) thinning, a sign of optic nerve atrophy. Read More

Neurology 2020 Jun 30. Epub 2020 Jun 30.

Department of Neurology, The Royal London Hospital, London, UK

A 57-year-old woman was admitted with a tonic-clonic seizure on a background of systemic sarcoidosis with uveitis and hilar lymphadenopathy. She had previously been well and stopped steroids one year before presentation. CT showed a sclerotic lesion with focal lucent areas in the skull base MRI revealed a frontal FLAIR hyperintense oedematous lesion with meningeal enhancement in gadolinium T1 This appearance on imaging evokes broad differential diagnoses such as sarcoidosis, fungal (although she had increasing lesion size despite six-month treatment with amphotericin B), craniofacial fibrous dysplasia, atypical lymphoma, nasopharyngeal carcinoma, myeloma and tuberculosis, therefore necessitating biopsy for definitive evaluation. Read More

Vet Radiol Ultrasound 2020 Jun 25. Epub 2020 Jun 25.

Radiology Department, Willows Referral Centre, Solihull, UK.

Constrictive myelopathy has been described in pugs with paraparesis and is characterized by fibrous connective and granulation tissue within the dura mater causing spinal cord compression and focal gliosis. An association between constrictive myelopathy and caudal articular process (CAP) dysplasia is suspected; however, some studies have reported CAP dysplasia as an incidental finding. The imaging appearance of constrictive myelopathy is currently limited to a small number of cases. Read More

FP Essent 2020 Jun;493:11-21

UNC Department of Family Medicine, 590 Manning Drive, Chapel Hill, NC 27599.

Primary benign bone tumors are uncommon and most often affect children and young adults. They typically are detected incidentally on imaging, though some patients present with pain, swelling, or other symptoms. The four main categories of benign bone tumor are: bone-forming (eg, osteoid osteoma, osteoblastoma, fibrous dysplasia, enostosis), cartilage-forming (eg, osteochondroma, enchondroma), connective tissue, and vascular; the latter two are rare. Read More

Radiologe 2020 Jul;60(7):655-668

Klinik für Orthopädie und Unfallchirurgie, Comprehensive Cancer Center Freiburg CCCF, Medizinische Fakultät, Universitätsklinikum Freiburg, Albert-Ludwigs-Universität Freiburg, Freiburg, Deutschland.

Tumor-like bony lesions are, by definition bony lesions, which can be clinically, radiologically and histologically mistaken for real bone tumors. This article presents the aneurysmal bone cyst (ABC), solitary bone cyst (SBC), fibrous dysplasia, osteofibrous dysplasia Campanacci and non-ossifying fibroma (NOF). Many tumor-like bony lesions are often incidental findings. Read More

J Eur Acad Dermatol Venereol 2020 May 12. Epub 2020 May 12.

Department. of Dermatology, Hospital Infantil Universitario Niño Jesús, Madrid, Spain.

In patients with tuberous sclerosis we can today distinguish between two different categories of segmental mosaicism. The well-known simple segmental mosaicism is characterized by a unilateral or otherwise localized arrangement of the ordinary lesions of the disorder, reflecting heterozygosity for an early postzygotic new mutation. By contrast, superimposed mosaicism is defined by a pronounced segmental involvement in a patient with ordinary nonsegmental lesions of the same disorder, resulting in a heterozygous embryo from loss of the corresponding wild-type allele that occurred at a very early developmental stage. Read More

World Neurosurg 2020 Apr 18. Epub 2020 Apr 18.

Division of Neurosurgery, McMaster University, Hamilton, Ontario, Canada. Electronic address:

Background: The endoscopic endonasal approach (EEA) has been increasing in popularity as an alternative to traditional transcranial and transorbital approaches in the treatment of orbital pathological entities. The purpose of the present study was to examine the outcomes of patients who had undergone EEA resection of orbital lesions at our center.

Methods: We performed a retrospective medical record review of patients who had undergone the EEA for resection of orbital lesions and orbital apex decompression from January 1, 2006 to December 1, 2019. Read More

Eur J Nucl Med Mol Imaging 2020 Apr 16. Epub 2020 Apr 16.

Department of Nuclear Medicine, Klinikum rechts der Isar, Technical University of Munich, School of Medicine, Ismaninger Straße 22, 81675, Munich, Germany.

J Nucl Med 2020 Apr 13. Epub 2020 Apr 13.

Skeletal Disorders and Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research, United States.

McCune-Albright syndrome (MAS) is a mosaic disorder arising from gain-of-function mutations in the GNAS gene, which encodes the 3', 5'-cyclic adenosine monophosphate (cAMP) pathway-associated G-protein, Gsα. Clinical manifestations of MAS in a given individual, including fibrous dysplasia, are determined by the timing and location of the GNAS mutation during embryogenesis, the tissues involved, and the role of Gsα in the affected tissues. The Gsα mutation results in dysregulation of the cAMP signaling cascade, leading to upregulation of phosphodiesterase type 4 (PDE4), which catalyzes the hydrolysis of cAMP. Read More

Eur J Nucl Med Mol Imaging 2020 Jun 25;47(6):1351-1352. Epub 2020 Feb 25.

Section of Nuclear Medicine, Dept. of Radiology, Leiden University Medical Center (LUMC), Leiden, the Netherlands.

Zhonghua Bing Li Xue Za Zhi 2020 Feb;49(2):122-128

Department of Maxillofacial Surgery, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, Chengdu 610072, China.

To investigate the clinicopathological and radiological features of benign fibro-osseous lesion (BFOL). Sixty-five cases of craniofacial BFOL, eight cases of peripheral ossifying fibroma (POF) and one case of low-grade central osteosarcoma diagnosed at Sichuan Provincial People's Hospital between January 2010 and March 2019 were collected. The clinicopathologic features, hematoxylin-eosin and immunohistochemical (IHC) staining and radiographic features were analyzed. Read More

J Surg Case Rep 2020 Feb 11;2020(2):rjz406. Epub 2020 Feb 11.

Department of Orthopaedic Surgery, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, Nagano, 390-8621, Japan.

Fibrous dysplasia generally stops growing when patients reach adulthood. Locally aggressive fibrous dysplasia is an extremely rare subtype of fibrous dysplasia that is characterized by progressive enlargement after bone maturation, cortical bone destruction and soft tissue invasion but without malignant transformation. At 50 years of age, a tumor was found in the rib of a patient. Read More

Insights Imaging 2020 Feb 13;11(1):23. Epub 2020 Feb 13.

Department of Neuroradiology, Hospital Universitari de Bellvitge, C. Feixa Llarga SN, 08907, L'Hospitalet de Llobregat, Spain.

The skull vault, formed by the flat bones of the skull, has a limited spectrum of disease that lies between the fields of neuro- and musculoskeletal radiology. Its unique abnormalities, as well as other ubiquitous ones, present particular features in this location. Moreover, some benign entities in this region may mimic malignancy if analyzed using classical bone-tumor criteria, and proper patient management requires being familiar with these presentations. Read More

Skeletal Radiol 2020 Jun 10;49(6):837-845. Epub 2020 Feb 10.

Department of Clinical Radiology, Kuopio University Hospital, Kuopio, Finland.

Objective: To examine the demographics, lesion location, and characteristic magnetic resonance imaging (MRI) findings in patients with histopathologically proven fibrous dysplasia (FD).

Materials And Methods: A systematic literature search of the MRI findings in patients with histologically proven FD was performed. Altogether, 76 articles with 136 patients were evaluated. Read More

Clin Imaging 2020 Jun 30;62:23-32. Epub 2020 Jan 30.

Department of Radiology and Biomedical Imaging, University of California, San Francisco, 505 Parnassus Ave, San Francisco, CA 94143, United States of America.

Purpose: To describe the imaging, anatomic, and clinical features of a series of secondary aneurysmal bone cysts (ABC) and to ascertain their most commonly associated primary bone lesions.

Methods: Forty-nine cases of histopathologically proven secondary ABCs were retrospectively reviewed. Demographic data and clinical history were obtained. Read More

BMC Med Genet 2020 01 21;21(1):15. Epub 2020 Jan 21.

Department of Endocrinology, ShenZhen Hospital, Southern Medical University, No. 1333, Xinhu Road, Shenzhen, 518100, Guangdong, China.

Background: Proteus syndrome (PS) is an extremely rare disease characterized by excessive chimeric growth of cells, and progressive and irregular asymmetrical hyperplasia.

Case Presentation: Herein, a PS case with atypical clinical features and syndromes was reported, to improve the understanding of the diagnosis and treatment of the disease. The case was a 3-year-and-11-month-old male child. Read More

World J Nucl Med 2019 Oct-Dec;18(4):409-412. Epub 2019 Dec 18.

Department of Urology, A. C. Camargo Cancer Center, São Paulo, Brazil.

Positron emission tomography/computed tomography (PET/CT) using Ga-labeled prostate-specific membrane antigen (Ga-PSMA) has become an important tool in restaging patients with prostate cancer (PCa). Despite its high sensitivity and specificity, this method may produce false-positive findings, as indicated by previous studies. This case report aims to warn nuclear medicine physicians, oncologists, and urologists about the possibility of false-positive findings using this imaging modality, especially when the detected site is unusual for bone metastasis. Read More

Eur J Nucl Med Mol Imaging 2020 Jun 10;47(6):1349-1350. Epub 2020 Jan 10.

Division of Nuclear Medicine, Department of Radiology and Oncology, Medical School of University of São Paulo (FMUSP), São Paulo, Brazil.

Radiographics 2020 Jan-Feb;40(1):44-71

From the American Institute for Radiologic Pathology, 1100 Wayne Ave, Suite 1020, Silver Spring, MD 20910 (M.A.M.); Department of Radiology (M.A.M., A.D.L.) and Division of Gastroenterology and Hepatology (S.S.), MedStar Georgetown University Hospital, Washington, DC; the Joint Pathology Center, Silver Spring, Md (A.K.M.); and Georgetown University School of Medicine, Washington, DC (R.E.G.).

Gastroesophageal reflux disease (GERD) is a common condition and impairs the quality of life for millions of patients, accounts for considerable health care spending, and is a primary risk factor for esophageal adenocarcinoma. There have been substantial advances in understanding the pathogenesis of GERD and its complications and much progress in diagnosis and management of GERD; however, these have not been comprehensively discussed in the recent radiology literature. Understanding the role of imaging in GERD and its complications is important to aid in multidisciplinary treatment of GERD. Read More

BMJ Case Rep 2019 Dec 29;12(12). Epub 2019 Dec 29.

Otorhinolaryngology and Head & Neck Surgery, All India Institute of Medical Sciences, New Delhi, India.

A 12-year-old girl presented with left-sided decreased vision of 2-month duration. Clinical evaluation and imaging revealed fibrous dysplasia compressing the left optic nerve with no underlying endocrinological abnormalities. Best-corrected visual acuity showed progressive deterioration of vision over 2-month follow-up. Read More

Eur J Nucl Med Mol Imaging 2020 Jun 24;47(6):1527-1537. Epub 2019 Dec 24.

Section of Nuclear Medicine, dept. of Radiology, Leiden University Medical Center (LUMC), Leiden, the Netherlands.

Purpose: To quantify NaF-PET/CT uptake in relation to clinical and biochemical parameters of fibrous dysplasia (FD) severity and healthy bone (HB) metabolism. Secondary aims: comparing normalization for volume of distribution and determining reproducibility of NaF-PET/CT uptake parameters in HB and FD. Relating NaF uptake to skeletal burden score (SBS), bisphosphonate therapy and pain measured by Brief Pain Inventory (BPI). Read More

Medicine (Baltimore) 2019 Dec;98(51):e18389

Department of Orthopedic Surgery, Chonbuk National University Medical School, Research Institute of Clinical Medicine of Chonbuk National University-Biomedical Research Institute of Chonbuk National University Hospital, Jeonju, South Korea.

Rationale: Fibrous dysplasia (FD) is a benign bone tumor due to developmental failure in the process of primitive bone remodeling to mature lamellar bone. The most common locations of monostotic FD of the extremity bones are the proximal femur, tibia, humerus and the radius. FD in the calcaneus is extremely rare and usually manifests clinically as a single bone lesion. Read More

Anticancer Res 2019 Dec;39(12):6769-6780

Institute of Pathology, Eppendorf University Hospital, University of Hamburg, Hamburg, Germany.

Background: Certain constitutive chromosomal abnormalities of the human X chromosome are relatively common in conspicuous neuropsychiatric findings. Although tumors or tumor-like lesions are occasionally reported in diseases of the X chromosome, they are numerically negligible, for example, in aneuploidy such as the triple X syndrome (TXS).

Case Report: A 16-year-old female patient with a known TXS and premutation stage of fragile X syndrome was referred by her dentist for diagnosis and treatment of unilateral cheek swelling. Read More

Ann Saudi Med 2019 Nov-Dec;39(6):441-443. Epub 2019 Dec 5.

From the Department of Otolaryngology, King Fahad Specialist Hospital, Dammam, Saudi Arabia.

We encountered an extremely rare case where a patient with cat eye syndrome (CES) who presented with symptoms of posterior semicircular canal dehiscence (PSCD). CES is a rare genetic disorder, resulting from duplication of chromosome 22. Patients may present with variable phenotypes, including characteristic of coloboma, heart defect, periauricular skin pit/tag, microtia, anal atresia and mildly retarded mental development in some cases. Read More

Endocr J 2020 Mar 4;67(3):353-359. Epub 2019 Dec 4.

Department of Endocrinology and Metabolism, Hirosaki University Graduate School of Medicine and Hospital, Hirosaki, Aomori, Japan.

McCune-Albright syndrome (MAS) is a rare disorder. MAS is classically defined by the occurrence of fibrous dysplasia, café-au-lait skin macules, and precocious puberty. In addition to precocious puberty, other hyperfunctioning endocrinopathies may occur. Read More

J Neurosurg Spine 2019 Nov 29:1-4. Epub 2019 Nov 29.

Departments of1Neurosurgery and.

Intramuscular myxomas (IMMs) are rare benign tumors of mesenchymal origin that are most often located in large skeletal muscles, particularly of the thigh. They have also been reported within the paraspinal musculature and should be considered in the differential diagnosis of a paraspinal mass. These lesions can cause neurological symptoms due to mass effect. Read More

Int J Pediatr Otorhinolaryngol 2020 Feb 19;129:109785. Epub 2019 Nov 19.

Department of Otolaryngology - Head & Neck Surgery, Division of Pediatric Otology & Hearing Program, Nationwide Children's Hospital, Columbus, OH, USA; Department of Otolaryngology - Head & Neck Surgery, Division of Otology, Neurotology & Cranial Base Surgery, The Ohio State University, Columbus, OH, USA. Electronic address:

A 15-year-old female presented for evaluation of progressive hearing loss over a year. Computed tomographic imaging revealed a 11 x 6 × 6 mm osseous lesion with 'groundglass' appearance within the left posterior petrous bone lateral to vestibular aqueduct suspicious for an endolymphatic sac tumor. Surgical excision revealed fibrous dysplasia on histological analysis. Read More

Probl Sotsialnoi Gig Zdravookhranenniiai Istor Med 2019 Aug;27(Special Issue):608-622

Russian Children's Clinical Hospital of Pirogov Russian National Research Medical University, 119571, Moscow, Russia.

The family form of giant cell reparative granuloma or cherubism is a rare benign lesion of the jaws which causes face deformation reminiscent of the cherubs portrayed in Renaissance art. Radical surgery, especially in children before puberty, is impossible or irrational, because it leads to disablement. For four years, a child with cherubism was undergoing an outpatient supervision in the Department of Maxillofacial Surgery in Russian Children Clinical Hospital. Read More

J Pak Med Assoc 2019 11;69(11):1755-1756

Department of Nuclear Medicine, Shaukat Khanum Memorial Cancer Hospital and Research Centre.

Cureus 2019 Sep 27;11(9):e5782. Epub 2019 Sep 27.

Ophthalmology, School of Medical Sciences, Universiti Sains Malaysia, Kubang Kerian, MYS.

Despite being among the common primary intracranial tumors, intraosseous craniofacial meningioma is the least common subtype of meningioma accounting for only 1-2% of intracranial meningiomas. Interestingly, it can display clinical and radiologic features that can be confused for fibrous dysplasia. Scan imaging and biopsy are crucial for the diagnosis as well as for further proper treatment. Read More

World J Surg Oncol 2019 Nov 9;17(1):186. Epub 2019 Nov 9.

Department of Magnetic Resonance Imaging, Hong Hui Hospital of Xi'an Jiaotong University, Xi'an, 710054, Shaanxi Province, People's Republic of China.

Background: Monostotic fibrous dysplasia (MFD) involving the spine is rare, and the treatment options are controversial. Surgery is needed when patients suffer from persistent pain, spinal cord compression/injury, and vertebral collapse/instability. Treatment methods include biopsy/observation, corpectomy with instrumented fusion, posterior fusion, vertebroplasty (VP), curettage and bone graft, and complete removal of the vertebra with a combined anterior and posterior fusion procedure. Read More

J Vet Cardiol 2019 Oct 3;25:61-73. Epub 2019 Oct 3.

Department of Clinical Sciences, Colorado State University, Campus Delivery 1678, Fort Collins, CO, 80523-1678, USA. Electronic address:

Introduction: This case series describes early experience and technical aspects of cutting balloon dilation followed by high-pressure balloon pulmonary valvuloplasty in dogs with dysplastic pulmonary valve stenosis.

Animals: Seven client-owned dogs were enrolled in this study.

Methods: Dogs were prospectively enrolled based on echocardiographic diagnosis of severe pulmonary valve dysplasia, defined as marked valve thickening with variable degrees of annular hypoplasia or subvalvar fibrous obstruction and a peak echocardiography-derived transpulmonary pressure gradient higher than 100 mmHg. Read More

Radiol Bras 2019 Sep-Oct;52(5):344-345

Canakkale Onsekiz Mart University, Faculty of Medicine, Canakkale, Turkey.

J Radiol Case Rep 2019 Feb 28;13(2):26-33. Epub 2019 Feb 28.

Department of Orthopedic Surgery, King Abdulaziz Medical City, Riyadh, Saudi Arabia.

Fibrous Dysplasia is a benign fibro-osseous lesion occurring throughout the skeletal system with a predilection for craniofacial bones, long bones, and ribs. Fibrous dysplasia develops during bone formation and growth with a variable natural evolution. It is considered a genetic nonheritable disease resulting from missense mutations that occur postzygotically in the GNAS1 gene. Read More

J Orthop Case Rep 2019 ;9(3):26-29

Department of Medicine, PGIMER and Dr. Ram Manohar Lohia Hospital, New Delhi, India.

Introduction: Mazabraud's syndrome is a rare benign disorder characterized by the association of single or multiple intramuscular myxomas with monostotic or polyostotic form of fibrous dysplasia. Around 80 cases have been described till date; however, a higher incidence may be expected due to silent nature of the disease and missed diagnosis. The authors report one such case of a missed diagnosis. Read More

Radiol Case Rep 2019 Nov 6;14(11):1356-1359. Epub 2019 Sep 6.

Department of Radiology, Ar-Razi Hospital, Med VI University Hospital Center, Marrakech 40000, Morocco.

Aneurysmal bone cyst is a non-neoplastic lesion consisting of blood filled sinusoidal spaces that expand from the affected bone. The most common locations of aneurysmal bone cysts are the metaphysis of long bones, followed by flat bones. Only 2% of all are found in the head and neck area, with mandible and maxilla being the most frequent sites involved, involvement of the ethmoidal bone is extremely rare. Read More

World J Radiol 2019 Jun;11(6):81-93

Department of Radiology, University of Pennsylvania, Philadelphia, PA 19104, United States.

Background: Classic "do not touch" and benign osseous lesions are sometimes detected on -F-fluorodeoxyglucose (F-FDG) positron emission tomography/computed tomography (PET/CT) studies. These lesions are often referred for biopsy because the physician interpreting the PET/CT may not be familiar with the spectrum of F-FDG uptake patterns that these lesions display.

Aim: To show that "do not touch" and benign osseous lesions can have increased F-FDG uptake above blood-pool on PET/CT; therefore, the CT appearance of these lesions should dictate management rather than the standardized uptake values (SUV). Read More

BMC Oral Health 2019 08 8;19(1):180. Epub 2019 Aug 8.

Department of oral and maxillofacial surgery, Muhimbili University of Health and Allied Sciences, P.O. Box 65001, Dar es Salaam, Tanzania.

Background: McCune-Albright syndrome (MAS) is a rare multisystem disorder that classically was defined by the triad of polyostotic fibrous dysplasia of bone, café-au-lait skin pigmentation, and precocious puberty. It is a condition that has a gradual onset, slow growth rate and remain painless throughout. The clinical phenotype of MAS is highly variable and no definite treatment is available. Read More

Zhonghua Nei Ke Za Zhi 2019 Aug;58(8):599-601

Department of Neurology, the First Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou 310003, China.

Carotid web is a rare risk factor of ischemic stroke. A total of 32 (0.54%) patients with carotid web were finally diagnosed in 5 943 patients who underwent carotid computerized tomography angiography (CTA) in two hospitals. Read More

Indian Dermatol Online J 2019 Jul-Aug;10(4):447-452

Department of Dermatology, Venereology and Leprosy, Dr. R. P. Govt. Medical College, Kangra, (Tanda), Himachal Pradesh, India.

CLOVES syndrome characterized by ongenital ipomatous vergrowth, ascular malformations, pidermal nevi, and keletal anomalies is a recently described sporadic syndrome from postzygotic activating mutations in . This 3-year-old boy, born to nonconsanguineous and healthy parents, had epidermal verrucous nevus, lower limb length discrepancy and bilateral genuvalgum, anterior abdominal wall lipomatous mass, central beaking of L2 and L3, and fibrous dysplasia of the left frontal bone. Ocular and dental abnormalities (ptosis, esotropia, delayed canine eruption, dental hypoplasia), ipsilateral asymmetrical deformity of skull, and large left cerebral hemisphere with mild ipsilateral ventriculomegaly were peculiar to him denoting an uncommon phenotype. Read More

BMJ Case Rep 2019 Jul 19;12(7). Epub 2019 Jul 19.

Department of Ophthalmology, Kasturba Medical College Mangalore, Manipal Academy of Higher Education, Manipal, Karnataka, India.

World Neurosurg 2019 Oct 12;130:439-443. Epub 2019 Jul 12.

Department of Neurosurgery, Kobe University Graduate School of Medicine, Kobe, Japan.

Background: The aneurysmal bone cyst (ABC) is a rare osteolytic lesion that is often associated with osseous disease such as fibrous dysplasia (FD).

Case Description: A 66-year-old woman previously diagnosed with FD presented with suddenly reduced visual acuity. Computed tomography and magnetic resonance imaging revealed a large osteolytic lesion in the middle cranial fossa that had invaded the left orbit. Read More

Acta Med Port 2019 Jun;32(6):466-468

Department of Neurosurgery. Hospital de Santa Maria. Centro Hospitalar de Lisboa Norte. Lisbon. Portugal.

Fibrous dysplasia is a bone disease characterized by an osteoblastic dysfunction resulting in a fibrous replacement of the normal medullary bone. We describe the case of a 33-year-old who presented with low back pain irradiating to her right leg. Both the computed tomography scan and magnetic resonance imaging showed an osteolytic, multicystic lesion of the right hemi-sacrum with invasion of the right S1 foramen. Read More

J Neurosurg 2019 Jun 21:1-10. Epub 2019 Jun 21.

5Department of Neurosurgery, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

Objective: Primary intraosseous meningioma (PIM) is a rare manifestation of meningioma, a benign, neoplastic lesion of the meninges. Its characteristic appearance is hyperostosis, while no or only minimal dural changes can be observed. This study aims to characterize this rare entity from both a clinical and histopathological point of view in order to improve clinical management. Read More

J Dent Sci 2019 Jun 14;14(2):219-222. Epub 2019 May 14.

Division of Oral Pathology & Maxillofacial Radiology, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan.

Indian J Pediatr 2019 11 17;86(11):1074-1075. Epub 2019 Jun 17.

Pediatric Neurology Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, 160012, India.

Oxf Med Case Reports 2019 May 31;2019(5):omz039. Epub 2019 May 31.

Department of Neurosurgery, Children's Hospital 'Agia Sofia', Athens, Greece.

Fibrous dysplasia is a rare non-malignant condition where fibrous tissue replaces the normal bone architecture. Involvement of temporal and occipital bones is exceptionally rare and is associated with unique complications. A 10-year-old boy presented with right retroauricular enlargement and pain. Read More

Orphanet J Rare Dis 2019 06 13;14(1):139. Epub 2019 Jun 13.

Skeletal Disorders and Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research, Bethesda, MD, USA.

Fibrous Dysplasia / McCune Albright syndrome (FD/MAS) represents a wide spectrum of diseases due to somatic gain-of-function mutations of the GNAS gene. The mutation leads to overactivity in the target tissues and to a wide phenotype of clinical features that vary in severity and age of onset. The rarity of the disease and its variable presentation to multiple specialities often leads to misdiagnosis and inappropriate variability in investigations and treatments. Read More

J Cancer Res Ther 2019 Jul-Sep;15(3):700-703

Department of Oral Pathology, A.J. Institute of Dental Sciences, Mangalore, Karnataka, India.

Desmoplastic ameloblastoma (DA) exhibits important differences in gender, anatomic distribution, radiographic findings, and histologic appearance compared to other types of ameloblastoma. Radiologically, DA is seen either as ill-defined mass containing osteolytic and sclerotic areas or as multifocal radiodense flecks within radiolucent background resembling a honeycomb. The radiographic differential diagnosis includes fibro-osseous lesions such as cemento-ossifying fibroma, fibrous dysplasia, calcifying odontogenic cyst, and chronic sclerosing osteomyelitis. Read More

J Bone Miner Res 2019 09 22;34(9):1619-1631. Epub 2019 May 22.

Skeletal Disorders and Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research (NIDCR), National Institutes of Health, Bethesda, MD, USA.

Fibrous dysplasia (FD) is a mosaic skeletal disorder resulting in fractures, deformity, and functional impairment. Clinical evaluation has been limited by a lack of surrogate endpoints capable of quantitating disease activity. The purpose of this study was to investigate the utility of F-NaF PET/CT imaging in quantifying disease activity in patients with FD. Read More