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Cureus 2021 Mar 28;13(3):e14159. Epub 2021 Mar 28.

Internal Medicine, Detroit Medical Center (DMC) Harper Hospital, Detroit, USA.

McCune Albright Syndrome (MAS) is caused by a mutation in the GNAS gene that results in multiple endocrinopathies such as Cushing syndrome, acromegaly, hyperthyroidism, and precocious puberty. Despite the presence of pleiotropy coupled with a GNAS gene mutation, malignancy is a rare occurrence in MAS. There is minimal literature showcasing squamous cell carcinoma (SCC) of the lung in patients with MAS. Read More

J Craniofac Surg 2021 Apr 29. Epub 2021 Apr 29.

Department of Maxillofacial Radiology, Faculty of Dentistry, Yeni Yuzyil University, Istanbul Department of Orthopedics and Traumatology, Van Training and Research Hospital, Van Department of Orthopedics and Traumatology, Tepecik Training and Research Hospital Department of Maxillofacial Radiology, Faculty of Dentistry, Ege University, Izmir, Turkey.

Abstract: Fibrous dysplasia (FD), a benign fibro-osseous bone tumor commonly involving the craniofacial region, presents a wide spectrum of radiographic patterns. When FD lesions are suspected, various imaging modalities and histopathologic analyses may be required to reach a firm diagnosis. Here, the authors report the case of a 10-year-old male patient presenting with polyostotic type of FD with follow-up data for the next 9 years. Read More

Bone Rep 2021 Jun 9;14:101058. Epub 2021 Apr 9.

Department of Internal Medicine, Division of Endocrinology, Center for Bone Quality, LUMC, Albinusdreef 2, 2333ZA Leiden, the Netherlands.

We present two patients with fibrous dysplasia who showed a decrease in lesional size and activity after denosumab therapy. Both patients also experienced a reduction in pain and bone turnover markers, which had not been accomplished during previous bisphosphonate therapy. These cases highlight the potential of denosumab to decrease lesional size in fibrous dysplasia. Read More

Int J Spine Surg 2021 Feb 29;14(s4):S46-S51. Epub 2020 Dec 29.

Department of Orthopaedics and Traumatology, Faculty of Medicine, Padjadjaran University, Bandung, Indonesia.

Fibrous dysplasia of the spine in a polyostotic form is very rare, with fewer than 36 cases discussed in the literature and there is no such case in Indonesia that has been reported. The aim of this report is to present a case from Indonesia of polyostotic fibrous dysplasia isolated in the spine. We report a case of a 38-year-old Sundanese man with a 1-year history of progressive back pain and weakness of both lower extremities. Read More

Case Reports Plast Surg Hand Surg 2021 Feb 5;8(1):12-17. Epub 2021 Feb 5.

Department of Oral Maxillofacial Surgery and Pathology, School of Dentistry - University of Mississippi Medical Center, Jackson, MS, USA.

Processed nerve allografts (PNA) have increasingly been used as alternative to autogenous nerve grafts to repair nerve injuries in oral-maxillofacial surgeries. This case report describes an immediate PNA reconstruction of infraorbital nerve injury sustained during the ablation of a large expansile polyostotic fibrous dysplasia centered in the left maxilla. Read More

BMC Pediatr 2021 Apr 14;21(1):173. Epub 2021 Apr 14.

Department of Sociology, Loyola University Maryland, 4501 North Charles St., Baltimore, MD, 20210, USA.

Background: Stigma, both enacted and internalized, is part of the illness experience of many chronic conditions / diseases and has been found to increase psychological distress, lower self-esteem, and impact social engagement lowering quality of life (QOL). Stigma among pediatric patients is of particular concern due to its potential impact on identity formation. Using patient data from the online FD/MAS Alliance Patient Registry (FDMASAPR), this study seeks to 1) determine levels of enacted and self-stigma in a pediatric population of fibrous dysplasia (FD) / McCune Albright syndrome (MAS) patients and 2) to explore the relationship between stigma and anxiety and depression. Read More

J Clin Res Pediatr Endocrinol 2021 Apr 14. Epub 2021 Apr 14.

Glasgow University School of Medicine, Glasgow, United Kingdom.

Ovarian causes of precocious pseudo-puberty (PPP) include McCune-Albright syndrome (MAS) and juvenile granulosa cell tumour (JGCT). We describe a case of PPP in which bilateral ovarian enlargement with multiple cysts progressed to unilateral JGCT. A girl aged 2. Read More

J Patient Rep Outcomes 2021 Apr 12;5(1):34. Epub 2021 Apr 12.

Department of Sociology, Loyola University Maryland, 4501 Charles St., Baltimore, MD, 21210, USA.

Purpose: The International FD/MAS Consortium recently encouraged using the Pediatric Quality of Life Inventory (PEDS-QL) and the Hospital Anxiety and Depression scales (HADS) in clinical care. This study examines scores on these measures among pediatric fibrous dysplasia and McCune Albright (FD/MAS) patients to initiate consideration of their use in clinical treatment.

Methods: This is a retrospective analysis of pediatric data from 39 minors, ages 2-17, entered in the Fibrous Dysplasia Foundation Patient Registry from July 2016 to December 2018. Read More

J Clin Med 2021 Mar 29;10(7). Epub 2021 Mar 29.

Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London EC1M 6BQ, UK.

Growth hormone (GH)-secreting pituitary tumours represent the most genetically determined pituitary tumour type. This is true both for germline and somatic mutations. Germline mutations occur in several known genes (, , , , , , , ) as well as familial cases with currently unknown genes, while somatic mutations in are present in up to 40% of tumours. Read More

J Clin Endocrinol Metab 2021 Mar 31. Epub 2021 Mar 31.

Center for Bone Quality, dept. of Internal Medicine, division of Endocrinology, Leiden University Medical Center (LUMC), Leiden, the Netherlands.

Context: The correlation between Fibrous Dysplasia/McCune-Albright syndrome (FD/MAS) skeletal disease burden on Na[18F]F-PET-CT and serum bone turnover markers (BTMs) was recently described. The effect of treatment on lesional fluoride burden in FD/MAS is unknown.

Objective: To investigate treatment response measurements in FD/MAS patients who underwent Na[18F]F-PET-CT and treatment with antiresorptives. Read More

Radiol Imaging Cancer 2020 03 13;2(2):e190020. Epub 2020 Mar 13.

Departments of Diagnostic Radiology (A.C.M., A.K.H., S.Y., S.R.P.) and Pathology (N.S.R.), The University of Texas MD Anderson Cancer Center, 1400 Pressler St, Unit 1473, Houston, TX 77030-4009; Department of Radiology, University of Texas at San Antonio, San Antonio, Tex (V.S.K.); and Department of Radiology, University of Pittsburgh Medical Center, Pittsburgh, Pa (A.K.D.).

Pancreatic ductal adenocarcinoma (PDAC) is a genetically heterogeneous, biologically aggressive malignancy with a uniformly poor prognosis. While most pancreatic cancers arise sporadically, a small subset of PDACs develop in patients with hereditary and familial predisposition. Detailed studies of the rare hereditary syndromes have led to identification of specific genetic abnormalities that contribute to malignancy. Read More

Front Endocrinol (Lausanne) 2021 12;12:632543. Epub 2021 Mar 12.

Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, United States.

The genetic alterations that cause the development of glucocorticoid and/or mineralocorticoid producing benign adrenocortical tumors and hyperplasias have largely been elucidated over the past two decades through advances in genomics. In benign aldosterone-producing adrenocortical tumors and hyperplasias, alteration of intracellular calcium signaling has been found to be significant in aldosterone hypersecretion, with causative defects including those in , and In benign cortisol-producing adrenocortical tumors and hyperplasias abnormal cyclic adenosine monophosphate-protein kinase A signaling has been found to play a central role in tumorigenesis, with pathogenic variants in , and being implicated. The role of this signaling pathway in the development of Cushing's syndrome and adrenocortical tumors was initially discovered through the study of the underlying genetic defects causing the rare multiple endocrine neoplasia syndromes McCune-Albright syndrome and Carney complex with subsequent identification of defects in genes affecting the cyclic adenosine monophosphate-protein kinase A pathway in sporadic tumors. Read More

Osteoporos Int 2021 Mar 27. Epub 2021 Mar 27.

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

Denosumab has been advocated as a potential treatment for the rare skeletal disorder fibrous dysplasia (FD); however, there is limited data to support safety and efficacy, particularly after drug discontinuation. We report a case of successful treatment of aggressive craniofacial FD with denosumab, highlighting novel insights into the duration of efficacy, surrogate treatment markers, and discontinuation effects. A 13-year-old girl presented with persistent pain and expansion of a maxillary FD lesion, which was not responsive to repeated surgical procedures or bisphosphonates. Read More

World J Clin Pediatr 2021 Mar 9;10(2):7-14. Epub 2021 Mar 9.

Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka 565-0871, Japan.

Background: McCune-Albright syndrome (MAS) is caused by postzygotic somatic mutations of the gene. It is characterized by the clinical triad of fibrous dysplasia, café-au-lait skin spots, and endocrinological dysfunction. Myriad complications in MAS, including hepatobiliary manifestations, are also reported. Read More

J Mother Child 2021 Mar 9. Epub 2021 Mar 9.

Center for Metabolic Diseases, University Hospital Leuven, Leuven, Belgium.

The patient, a boy born in 1991, showed pronounced polyostotic fibrous dysplasia due to McCune-Albright syndrome, as well as Gilbert syndrome and Charcot-Marie-Tooth neuropathy caused by a mutation. In addition, the patient, his sister, mother and maternal grandfather had intermittently increased plasma arginine and lysine levels, most probably due to heterozygosity for a novel pathogenic variant. Read More

Acta Biomed 2020 10 13;92(1):e2021018. Epub 2020 Oct 13.

Department of Neurosciences, Section of Otolaryngology and Regional Centre for Head and Neck Cancer, University of Padova, Treviso, Italy; Department of Surgery, Oncology and Gastroenterology, Section of Oncology and Immunology, University of Padova, Padova, Italy.

Background And Aim Of The Work: Fibrous dysplasia is a fibro-osseous osteopathy in which the normal bone architecture is replaced by fibrous tissue and non-functional trabeculae-like osseous structures. In head and neck area monostotic or polyostotic lesions cause a progressively expanding destructive bone swelling producing cosmetic deformities and functional impairments. The aim of this article is to present a retrospective review of a clinical case series with pathologically confirmed jawbone fibrous dysplasia for over an 8-year-period. Read More

Curr Osteoporos Rep 2021 Apr 22;19(2):141-150. Epub 2021 Feb 22.

Skeletal Disorders and Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Building 30 Room 228 MSC 4320, Bethesda, MD, 20892, USA.

Purpose Of Review: This review summarizes current understanding of the role of denosumab, an inhibitor of receptor activator of nuclear kappa-B ligand (RANKL), in the management of 3 skeletal neoplasms: giant cell tumors, aneurysmal bone cysts, and fibrous dysplasia.

Recent Findings: A growing body of literature supports denosumab use in giant cell tumors, a neoplasm in which RANKL plays a clear pathogenic role. Comparatively less data is available in aneurysmal bone cysts and fibrous dysplasia; however, the pathogenic similarity of these disorders to giant cell tumors, as well as encouraging preliminary data, suggests denosumab may be useful. Read More

Pan Afr Med J 2020 25;37:271. Epub 2020 Nov 25.

Département d´Imagerie Médicale, Hôpital Principal de Dakar, Dakar, Sénégal.

Fibrous dysplasia (FD) of bone is a benign, congenital and rare disease in which normal bone is replaced by fibrous bone tissue, resulting in bone deformities. It can affect any bone in the body, however craniofacial fibrous dysplasia is characterized by specific clinical manifestations, progression and therapeutic issues. The purpose of our study was to describe the diagnostic, therapeutic and evolutionary features of craniofacial FD. Read More

Neurosci Biobehav Rev 2021 May 10;124:267-290. Epub 2021 Feb 10.

Department of Anesthesiology, Critical Care and Pain Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA; Department of Psychiatry, McLean Hospital, Harvard Medical School, Belmont, MA, 02478, USA. Electronic address:

For patients diagnosed with a rare musculoskeletal or neuromuscular disease, pain may transition from acute to chronic; the latter yielding additional challenges for both patients and care providers. We assessed the present understanding of pain across a set of ten rare, noninfectious, noncancerous disorders; Osteogenesis Imperfecta, Ehlers-Danlos Syndrome, Achondroplasia, Fibrodysplasia Ossificans Progressiva, Fibrous Dysplasia/McCune-Albright Syndrome, Complex Regional Pain Syndrome, Duchenne Muscular Dystrophy, Infantile- and Late-Onset Pompe disease, Charcot-Marie-Tooth Disease, and Amyotrophic Lateral Sclerosis. Through the integration of natural history, cross-sectional, retrospective, clinical trials, & case studies we described pathologic and genetic factors, pain sources, phenotypes, and lastly, existing therapeutic approaches. Read More

Endocrine 2021 Mar 4;71(3):663-674. Epub 2021 Feb 4.

Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine, Queen Mary University of London, London, UK.

Background: Pituitary tumours are usually benign and relatively common intracranial tumours, with under- and overexpression of pituitary hormones and local mass effects causing considerable morbidity and increased mortality. While most pituitary tumours are sporadic, around 5% of the cases arise in a familial setting, either isolated [familial isolated pituitary adenoma, related to AIP or X-linked acrogigantism], or in a syndromic disorder, such as multiple endocrine neoplasia type 1 or 4, Carney complex, McCune-Albright syndrome, phaeochromocytoma/paraganglioma with pituitary adenoma, DICER1 syndrome, Lynch syndrome, and USP8-related syndrome. Genetically determined pituitary tumours usually present at younger age and show aggressive behaviour, and are often resistant to different treatment modalities. Read More

J Clin Endocrinol Metab 2021 Apr;106(5):1482-1490

Skeletal Disorders and Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, Maryland 20892, USA.

Context: Fibrous dysplasia/McCune-Albright syndrome (FD/MAS) is a rare bone and endocrine disorder resulting in fractures, pain, and disability. There are no targeted or effective therapies to alter the disease course. Disease arises from somatic gain-of-function variants at the R201 codon in GNAS, replacing arginine by either cysteine or histidine. Read More

JBJS Case Connect 2020 10 16;10(4):e20.00157. Epub 2020 Oct 16.

Department of Diagnostic Pathology, Kanazawa University Hospital, Kanazawa, Japan.

Case: We report the case of a 78-year-old woman with undifferentiated pleomorphic sarcoma (UPS) of the proximal femur arising in a previous site of fibrous dysplasia (i.e., a liposclerosing myxofibrous tumor) that had been treated 4 years earlier with curetted surgery. Read More

Clin Nucl Med 2021 Jan 7;Publish Ahead of Print. Epub 2021 Jan 7.

From the Radiation Medicine Centre, Bhabha Atomic Research Centre, Mumbai Spandan Superspeciality Clinic, Aurangabad, India.

Abstract: A 43-year-old man diagnosed with fibrous dysplasia with McCune-Albright syndrome was subjected to 18F-fluoride bone scan and 68Ga-PSMA-HBED-CC PET/CT as per the institution protocol. 18F-bone scan revealed extensive involvement of axial and appendicular skeleton confirming polyostotic fibrous dysplasia. 68Ga-PSMA PET/CT showed increased tracer uptake in corresponding lesions of fibrous dysplasia. Read More

World J Clin Cases 2020 Dec;8(23):6197-6205

Department of Musculoskeletal Oncology, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou 510080, Guangdong Province, China.

Background: Polyostotic fibrous dysplasia (PFD) is an uncommon developmental bone disease in which normal bone and marrow are replaced by pseudotumoral tissue. The etiology of PFD is unclear, but it is generally thought to be caused by sporadic, post-zygotic mutations in the gene. Herein, we report the case of a young female with bone pain and lesions consistent with PFD, unique physical findings, and gene mutations. Read More

Front Pediatr 2020 24;8:582316. Epub 2020 Nov 24.

All India Institute of Medical Sciences Bhubaneswar, Bhubaneswar, India.

This retrospective study evaluated the outcome and safety of long-term treatment with zoledronic acid, in both polyostotic and mono-ostotic fibrous dysplasia (FD) of children. The case records of children and adolescents with symptomatic FD who received zoledronic acid (0.1 mg/kg IV infusion over 1 h) and have completed at least 2 years follow-up were analyzed. Read More

Int J Radiat Biol 2021 6;97(3):317-328. Epub 2021 Jan 6.

Institut National des Sciences et de la Recherche Médicale, UA8 Research Unit 'Radiations: Defense, Health, Environment', Centre Anti-Cancer Léon-Bérard, Lyon, France.

Purpose: MacCune-Albright syndrome (MAS) is a rare autosomal dominant osteo-hormonal disorder. MAS is characterized by a severe form of polyostotic fibrous dysplasia, 'café-au-lait' pigmentation of the skin and multiple endocrinopathies. MAS was shown to be caused by mosaic missense somatic mutations in the gene coding for the alpha-subunit of the stimulatory G-protein. Read More

Curr Med Imaging 2020 Dec 8. Epub 2020 Dec 8.

Ankara University, Faculty of Dentistry, Department of Dentomaxillofacial Radiology, Ankara. Turkey.

Background: McCune-Albright Syndrome (MAS) is a genetic disorder with a triad of endocrine diseases, caféau-lait macules and fibrous dysplasias. Craniofacial fibrous dysplasia is a term that is used to describe the fibrous dysplasia which were localized at the craniofacial skeleton and it is common in MAS patients.

Objective: The objective of this review is to determine the involvement frequency of cranial and facial bones in the patients with MAS and CFD. Read More

Bone 2021 02 2;143:115784. Epub 2020 Dec 2.

INSERM UMR 1033, Université de Lyon, Hôpital E Herriot, Lyon cedex 03, France.

Introduction: Fibrous dysplasia of bone (FD) is a rare congenital bone disease, due to a somatic mutation of GNAS. This mutation results in a defect of osteoblast differentiation and mineralization and also an increase in bone resorption by large active osteoclasts. Bone pain is present in half of patients and is the main determinant of quality of life of patients with FD. Read More

J Orthop Surg Res 2020 Dec 3;15(1):583. Epub 2020 Dec 3.

Musculoskeletal Tumor Center, Peking University People's Hospital, No. 11 Xizhimen South Street, Beijing, 100044, China.

Background: Fibrous dysplasia (FD) is a rare bone disorder in which normal intramedullary bone is replaced by fibro-osseous tissue, which is complicated by the progression of Shepherd's crook deformity. How to predict the progression of Shepherd's crook deformity is still a challenging for the orthopedic surgeon.

Methods: A total of 159 cases were reviewed in the retrospective study between January 2000 and September 2016. Read More

Horm Res Paediatr 2020 2;93(6):402-408. Epub 2020 Dec 2.

Department of Endocrinology, The Royal Children's Hospital, Parkville, Victoria, Australia,

Introduction: McCune-Albright syndrome (MAS) is a rare condition, in which GNAS mutations affect multiple organs. Fibrous dysplasia (FD), affecting only one or multiple skeletal territories, may severely affect craniofacial structures. Concomitant occurrence of acromegaly aggravates skull deformity, leading to eye, ear, and posterior cranial fossa compromise. Read More