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J Bone Miner Res 2018 Jun 20. Epub 2018 Jun 20.

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

Fibrous dysplasia (FD) is a mosaic disorder of benign fibro-osseous lesions, which may be associated with extraskeletal features as part of McCune-Albright syndrome (MAS). Cranial base abnormalities, including Chiari I malformation (CM1), in which the cerebellum extends below the foramen magnum, and secondary basilar invagination (BI), in which the odontoid prolapses into the posterior cranial fossa, are potentially serious complications of metabolic bone disorders. The purpose of this study was to determine the prevalence, natural history, and risk factors for CM1 and BI in patients with FD/MAS, and to determine mechanisms of cranial base deformities. Read More

J Craniomaxillofac Surg 2018 May 12. Epub 2018 May 12.

Department of Maxillofacial and Plastic Surgery, (Head: Prof. Dr. Dr. R. H. Reich), University of Bonn, Sigmund-Freud-Str. 25, 53127, Bonn, Germany.

Fibrous dysplasia is a benign bone disease, presenting as monostotic or polyostotic lesions, or as part of a syndrome (McCune-Albright/Mazabraud). Its clinical course shows a variegated picture and the progression of its growth is unpredictable. In the workup of 39 fibrous dysplasia cases in the cranio-facial area, four cases presented fast growth tendencies, of which two patients with McCune-Albright syndrome showed malignant-like rapid growth. Read More

Case Rep Anesthesiol 2018 6;2018:4219187. Epub 2018 May 6.

Department of Emergency and Critical Care Medicine, Hyogo College of Medicine, Hyōgo Prefecture, Japan.

There have been no case reports to date describing the technical aspects of tracheal intubation in a patient with a goitre associated with McCune-Albright syndrome (MAS), even though goitre is frequently observed in this condition. I describe a case of resection of a giant goitre in a patient with MAS, with difficult airway management. Preoperative investigation showed that the trachea was shifted to the right by the goitre, with the narrowest part of the tracheal lumen 4 mm in diameter. Read More

Turk Patoloji Derg 2018 May 10. Epub 2018 May 10.

Department of Surgical Pathology, Uludag University Faculty of Medicine , BURSA, TURKEY.

Objective: Fibrous dysplasia is a slowly progressing bone lesion resulting from displacement of the normal medullary bone with abnormal fibroosseous tissue. The aim of this study was to assess the similarities and differences of our cases in relation to published reports.

Material And Method: In this study, the archives of the Uludag University Medical Faculty Department of Pathology were screened for fibrous dysplasia cases between 2004 and 2016. Read More

Orphanet J Rare Dis 2018 May 2;13(1):72. Epub 2018 May 2.

Department of Orthopaedic Surgery, Centre for Bone Quality, Leiden University Medical Center, Postzone J11R, Postbus 9600, 2300 RD, Leiden, The Netherlands.

Background: Fibrous dysplasia of the proximal femur presents with heterogeneous clinical manifestations dictating different surgical approaches. However, to date there are no clear recommendations to guide the choice of surgical approach and no general guidelines for the optimal orthopedic management of these lesions. The objective of this study was to evaluate treatment outcomes of angled blade plates and intramedullary nails, using as outcome indicators revision-free survival, pain, function and femoral neck-shaft-angle. Read More

Clin Endocrinol (Oxf) 2018 Jul 17;89(1):56-64. Epub 2018 May 17.

Section on Skeletal Disorders and Mineral Homeostasis, NIDCR, NIH, Bethesda, MD, USA.

Context: In fibrous dysplasia (BFD), normal bone and bone marrow are replaced by fibro-osseous tissue, leading to fracture, deformity and pain. BFD may be isolated, or in association with cutaneous hyperpigmentation and/or hyperfunctioning endocrinopathies, termed McCune-Albright syndrome (MAS). GH hypersecretion has been described in 10%-20% of MAS-BFD patients. Read More

J Bone Miner Res 2018 Apr 18. Epub 2018 Apr 18.

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

Scoliosis is a complication of fibrous dysplasia/McCune-Albright syndrome (FD/MAS); however, risk factors and long-term outcomes are unknown. Bisphosphonates are commonly used; however, it is unknown whether their use decrease the risk of progressive scoliosis. Clinical data from the National Institutes of Health (NIH) cohort study was reviewed. Read More

Front Endocrinol (Lausanne) 2018 15;9:96. Epub 2018 Mar 15.

Department of Women's and Children's Health, Karolinska Institute, Stockholm, Sweden.

Objective: Fibrous dysplasia (FD) presents as skeletal lesions in which normal bone is replaced by abnormal fibrous tissue due to mosaic mutation. McCune-Albright syndrome (MAS) refers to FD combined with skin (café-au-lait) and endocrine manifestations. This study describes the clinical childhood manifestations of polyostotic FD and MAS in a Nordic cohort. Read More

P R Health Sci J 2018 Mar;37(1):58-61

Department of Orthopedic Surgery, School of Medicine, University of Puerto Rico, Medical Sciences Campus, San Juan, PR.

Fibrous dysplasia is a benign developmental disorder of bone in which fibrous connective tissue containing abnormal bone with irregular trabeculae replaces normal cancellous bone. It may affect 1 (monostotic) or multiple bones (polyostotic). Polyostotic disease is the less common of the 2, occurring in only 20 to 25% of fibrous dysplasia patients and tending to affect those who are younger than 10 years of age; patients having this form tend to experience bone enlargement beyond normal skeletal maturation, which can cause pain, progressive damage, and increased risk of pathological fracture. Read More

BMC Cancer 2018 03 15;18(1):293. Epub 2018 Mar 15.

Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Verona, Italy.

Background: Mutations activating the α subunit of heterotrimeric Gs protein are associated with a number of highly specific pathological molecular phenotypes. One of the best characterized is the McCune Albright syndrome. The disease presents with an increased incidence of neoplasias in specific tissues. Read More

Pathologe 2018 Mar;39(2):146-153

Pathologisches Institut, Klinikum Region Hannover, Haltenhoffstraße 41, 30167, Hannover, Deutschland.

Fibrous dysplasia of bone is a connatal but not hereditary disease with monostotic or polyostotic manifestations and may be associated either with the extraskeletal disease McCune-Albright syndrome or with myxoma of the skeletal muscle, termed Mazabraud syndrome.The confirmation of recurrent chromosomal aberrations may lead to the conclusion that fibrous dysplasia is a neoplasia rather than a dysplastic skeletal disease.The primary cause of all forms of the described diseases is the activating GNAS mutation, which is detectable in almost all lesions. Read More

J Craniofac Surg 2018 May;29(3):e318-e319

Department of Radiology, Medical Faculty, Ataturk University, Erzurum, Turkey.

Fibrous dysplasia is an unusual benign bone tumor. It is divided into 3 groups as monostotic, polyostotic, and craniofacial form. The authors reported an unusual patient with fibrous dysplasia with an aggressive radiologic appearance. Read More

Bone 2018 May 20;110:230-237. Epub 2018 Feb 20.

Endocrine Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA. Electronic address:

GNAS mutations leading to constitutively active stimulatory G protein alpha-subunit (Gsα) cause different tumors, fibrous dysplasia of bone, and McCune-Albright syndrome, which are typically not associated with short stature. Enhanced signaling of the parathyroid hormone/parathyroid hormone-related peptide receptor, which couples to multiple G proteins including Gsα, leads to short bones with delayed endochondral ossification. It has remained unknown whether constitutive Gsα activity also impairs bone growth. Read More

Clin Perinatol 2018 Mar 12;45(1):103-118. Epub 2017 Dec 12.

Section on Endocrinology and Genetics, Developmental Endocrine Oncology and Genetics Group, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), NIH-Clinical Research Center, 10 Center Drive, Building 10, Room 1-3330, MSC1103, Bethesda, MD 20892, USA; Pediatric Endocrinology Inter-Institute Training Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), NIH-Clinical Research Center, 10 Center Drive, Building 10, Room 1-3330, MSC1103, Bethesda, MD 20892, USA. Electronic address:

Neonatal Cushing syndrome (CS) is most commonly caused by exogenous administration of glucocorticoids and rarely by endogenous hypercortisolemia. CS owing to adrenal lesions is the most common cause of endogenous CS in neonates and infants, and adrenocortical tumors (ACTs) represent most cases. Many ACTs develop in the context of a TP53 gene mutation, which causes Li-Fraumeni syndrome. Read More

Br J Radiol 2018 Jun 7;91(1086):20170826. Epub 2018 Mar 7.

1 The Russell H. Morgan Department of Radiology and Radiological Science, Johns Hopkins University School of Medicine , Baltimore, MD , USA.

Three-dimensional (3D) visualizations of volumetric data from CT have gained widespread clinical acceptance and are an important method for evaluating complex anatomy and pathology. Recently, cinematic rendering (CR), a new 3D visualization methodology, has become available. CR utilizes a lighting model that allows for the production of photorealistic images from isotropic voxel data. Read More

Clin Cases Miner Bone Metab 2017 Sep-Dec;14(3):332-335. Epub 2017 Dec 27.

First Department of Orthopaedics, National and Kapodistrian University of Athens, School of Medicine, ATTIKON University Hospital, Athens, Greece.

Polyostotic fibrous dysplasia in combination with caféau-lait macules and hyperfunctioning endocrinopathies consists of a rare clinical condition termed as McCune-Albright syndrome. Aneurysmal bone cysts are tumor-like cystic lesions, composed of blood-filled compartments. They may occur as primary lesions or secondary to other pathologies; most commonly giant cell tumors of bone. Read More

Pediatr Endocrinol Rev 2017 Dec;15(2):136-141

Department of Pediatrics, Section of Endocrinology/ Diabetology, Riley Hospital for Children, Indiana University School of Medicine, Indianapolis, USA.

The most common endocrinopathy associated with McCune-Albright Syndrome (MAS) is peripheral precocious puberty (PP) which occurs far more often in girls than in boys. We will discuss the latest advancements in the treatment of precocious puberty in MAS that have been achieved during the past 10 years. However, due to the rarity of the condition and the heterogeneity of the disease, research in this field is limited particularly in regards to treatment in boys. Read More

Glob Pediatr Health 2017 21;4:2333794X17742748. Epub 2017 Nov 21.

Baylor College of Medicine, Houston, TX, USA.

Pediatr Neonatol 2017 Nov 13. Epub 2017 Nov 13.

Department of Pediatrics, Cathay General Hospital, Taipei, Taiwan; College of Medicine, Fu-Jen Catholic University, New Taipei City, Taiwan. Electronic address:

JAMA Otolaryngol Head Neck Surg 2018 Feb;144(2):102-107

Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland.

Importance: Fibrous dysplasia (FD) and McCune-Albright syndrome (MAS) are rare bone and endocrine disorders in which expansile fibro-osseous lesions result in deformity, pain, and functional impairment. The effect of FD on hearing and otologic function has not been established.

Objectives: To characterize audiologic and otologic manifestations in a large cohort of individuals with FD/MAS and to investigate potential mechanisms of hearing loss. Read More

Cochlear Implants Int 2018 May 30;19(3):170-179. Epub 2017 Nov 30.

c Department of Medical Imaging (RJR) , St. Peter's Hospital , 315 South Manning Blvd, Albany , NY , USA.

Objective And Importance: To describe cases that illustrate the utility of intraoperative computed tomography (CT) in cochlear implantation of patients with difficult temporal bone anatomy.

Clinical Presentation: A 2-year-old male with congenital X-linked stapes gusher syndrome and a 2-year-old female with enlarged vestibular aqueduct underwent successful cochlear implantation with the help of intraoperative CT. In the latter case, the initial intraoperative C-arm fluoroscopy suggested malposition of the electrode, however, was not able to provide details for adjustments. Read More

Proc Natl Acad Sci U S A 2018 Jan 20;115(3):E418-E427. Epub 2017 Nov 20.

Department of Developmental Biology, Harvard School of Dental Medicine, Boston, MA 02115;

Fibrous dysplasia (FD; Online Mendelian Inheritance in Man no. 174800) is a crippling skeletal disease caused by activating mutations of the gene, which encodes the stimulatory G protein Gα FD can lead to severe adverse conditions such as bone deformity, fracture, and severe pain, leading to functional impairment and wheelchair confinement. So far there is no cure, as the underlying molecular and cellular mechanisms remain largely unknown and the lack of appropriate animal models has severely hampered FD research. Read More

Molecules 2017 Nov 1;22(11). Epub 2017 Nov 1.

Molecular Medicine Research Center, College of Medicine, Chang Gung University, Taoyuan 333, Taiwan.

McCune-Albright syndrome (MAS) is characterized by the triad of precocious puberty, café au lait pigmentation, and polyostotic fibrous dysplasia (FD) of bone, and is caused by post-zygotic somatic mutations-R201H or R201C-in the guanine nucleotide binding protein, alpha stimulating (GNAS) gene. In the present study, a novel peptide nucleic acid (PNA) probe with fluorescent labeling was designed to detect trace amounts of somatic mutant in a single tube reaction. The method was applied to screen mutations in six patients with MAS/FD. Read More

Osteoporos Int 2018 Jan 25;29(1):237-241. Epub 2017 Oct 25.

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

In fibrous dysplasia/McCune-Albright syndrome (FD/MAS), bone and bone marrow are, to varying degrees, replaced by fibro-osseous tissue typically devoid of hematopoietic marrow. Despite the extensive marrow replacement in severely affected patients, bone marrow failure is not commonly associated with FD/MAS. We present a 14-year-old girl with FD/MAS, who developed pancytopenia and extramedullary hematopoiesis (EMH) with no identified cause, in the setting of iatrogenic thyrotoxicosis and hyperparathyroidism. Read More

Calcif Tissue Int 2018 Jan 11;102(1):23-31. Epub 2017 Oct 11.

Division Endocrinology, Department of Medicine, Center for Bone Quality, Leiden University Medical Center, Leiden, The Netherlands.

Fibrous dysplasia (FD) is a rare bone disorder in which normal bone is replaced by fibrous tissue resulting in pain, deformities, pathological fractures or asymptomatic disease. Illness perceptions are patients' cognitions and emotions about their illness and its treatment, which may impact on Quality of Life (QoL). Here, we explore illness perceptions in patients with FD compared to other disorders, identify factors associated with illness perceptions and evaluate their relationship with QoL. Read More

Surg Neurol Int 2017 6;8:209. Epub 2017 Sep 6.

Department of Neurological Surgery, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

Background: Fibrous dysplasia (FD) is a rare developmental disease characterized by the replacement of bone marrow with proliferating fibro-osseous tissue. There exist three forms of FD-monostotic, polyostotic, and that associated with McCune-Albright syndrome. The disease can present in different locations and with a variety of symptoms. Read More

BMJ Case Rep 2017 Sep 28;2017. Epub 2017 Sep 28.

Department of Endocrinology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.

A 38-year-old man presented with excessive height gain and progressive enlargement of the extremities since childhood. This was compounded by lower limb deformities over the past 5 years. On examination, his height was 196 cm, he had macroglossia, acral enlargement, seborrhoea, hyperhidrosis-suggesting acrogigantism. Read More

J Bone Miner Res 2018 Jan 20;33(1):84-90. Epub 2017 Sep 20.

Department of Medicine, Division of Endocrinology, Center for Bone Quality, Leiden University Medical Center, Leiden, The Netherlands.

Fibrous dysplasia (FD) is a rare bone disorder caused by mutations of the GNAS gene, which are also identified in malignancies. We explored the potential relationship between breast cancer and fibrous dysplasia in two fibrous dysplasia cohorts from the Netherlands and the United States. Data on fibrous dysplasia and breast cancer diagnosis were retrieved from hospital records of 134 (Netherlands) and 121 (US) female patients. Read More

Acta Biomed 2017 Aug 23;88(2):198-200. Epub 2017 Aug 23.

Gaetano Pini-CTO, Milano.

Mazabraud syndrome is a very rare benign disorder characterized by the association of monostotic or polyostotic fibrous dysplasia and one or multiple intramuscular myxomas. McCune -Albright syndrome is a rare benign disorder characterized by the association of polyostotic fibrous dysplasia, cafè-au-lait skin pigmentations and endocrine dysfunction, such as precocious puberty, diabetes mellitus, goiter and breast fibroadenomatosis. The association of Mazabraud syndrome and McCune-Albright in the same patient is an anecdotal event. Read More

Surg Neurol Int 2017 1;8:160. Epub 2017 Aug 1.

Department of Neurosurgery, Rasool Akram Hospital, Tehran, Iran.

Clin Nucl Med 2017 Oct;42(10):e454-e456

From the Departments of *Orthopaedic Surgery, and †Radiology, Fukushima Medical University School of Medicine; and ‡Fukushima Pathology Laboratory, Fukushima, Japan.

Fibrous dysplasia rarely transforms into a secondary malignancy. We present the PET/CT findings at pretreatment and posttreatment in an exceedingly rare case of epithelioid angiosarcoma of the bone secondary to polyostotic fibrous dysplasia. Read More

Trends Cancer 2016 06 1;2(6):282-285. Epub 2016 Jun 1.

Laboratory of Translational Surgery, Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics. University of Verona, Verona, Italy. Electronic address:

Over 25 years ago, GNAS mutations were discovered associated with McCune-Albright syndrome (MAS) and pituitary tumors. The mutant gene, encoding the heterotrimeric Gs protein, was named 'derived from Gs Protein' (gsp) oncogene. For a long time, gsp remained associated with specific endocrine tumors. Read More

Clin Endocrinol (Oxf) 2017 Nov 8;87(5):627-634. Epub 2017 Aug 8.

Department of Endocrinology, The Royal Children's Hospital, Melbourne, VIC, Australia.

Context: McCune-Albright syndrome (MAS) is associated with numerous health problems. Comprehensive long-term health problems of adults with MAS are less well defined in the literature.

Objective: Our objective is to report comprehensive health outcomes of adults with MAS (>18 years). Read More

Case Rep Endocrinol 2017 6;2017:7898713. Epub 2017 Jun 6.

Gynecological Endocrinology Unit, Division of Endocrinology, Hospital de Clinicas de Porto Alegre, Rua Ramiro Barcelos 2350, 90035-003 Porto Alegre, RS, Brazil.

McCune-Albright syndrome (MAS) is a rare disease defined by the triad of polyostotic fibrous dysplasia of bone, café-au-lait skin spots, and precocious puberty. No available treatment is effective in changing the course of fibrous dysplasia of bone, but symptomatic patients require therapeutic support to reduce bone pain and prevent fractures and deformities. We report the case of a 27-year-old woman with MAS and severe fibrous dysplasia. Read More

Skeletal Radiol 2017 Oct 28;46(10):1435-1439. Epub 2017 Jun 28.

Dental Physical Sciences, Queen Mary University of London, London, E1 4NS, UK.

Bisphosphonates (BPs) are currently used in the treatment of diverse bone diseases including fibrous dysplasia of bone (FD). In pediatric patients, a radiographic consequence of cyclical administration of BPs is the development of apo-, epi-, and meta-physeal sclerotic bands, otherwise known as zebra lines, which result from the temporary inhibition of osteoclastic activity at the time of drug treatment. We report here on a child with McCune-Albright syndrome (FD in addition to hyperfunctioning endocrinopathies and skin hyperpigmentation) treated with cyclical intravenous infusions of pamidronate in which conventional radiography, contact microradiography, histology, and backscattered electron image analysis demonstrated that zebra lines formed only where bone was normal, were arrested at the boundary between FD-unaffected and FD-affected bone where bone is sclerotic, and were absent within the undermineralized FD bone. Read More

J Pediatr Pharmacol Ther 2017 May-Jun;22(3):233-236

Infantile Cushing syndrome is an infrequent yet potentially fatal manifestation of McCune-Albright syndrome, for which there are few safe treatments available. Ketoconazole is limited by potential hepatotoxicity in this population. Metyrapone may be an effective treatment, but it may not be tolerated when given orally. Read More

Br J Haematol 2017 07 14;178(2):179. Epub 2017 Jun 14.

Department of Paediatric Haematology/Oncology, University Hospital of Wales, Cardiff, UK.

Sci Rep 2017 Jun 6;7(1):2836. Epub 2017 Jun 6.

Department of Pathology, Yonsei University College of Medicine, Seoul, Korea.

Guanine nucleotide-binding protein/α-subunit (GNAS) mutations are involved in fibrous dysplasia (FD) pathogenesis. Here, we analyzed GNAS mutations in FD which were performed by pyrosequencing DNA isolated from formalin-fixed paraffin-embedded (FFPE) tissue. The mutation detection rate was determined in FD specimens with and without decalcification. Read More

Endocrinol Diabetes Metab Case Rep 2017 16;2017. Epub 2017 May 16.

Endocrinology Unit, Department of Medicine, Putrajaya Hospital, PutrajayaMalaysia.

Pachydermoperiostosis is a very rare osteoarthrodermopathic disorder whose clinical and radiographic presentations may mimic those of acromegaly. In the evaluation of patients with acromegaloid appearances, pachydermoperiostosis should be considered as a differential diagnosis. In this article, we report a 17-year-old boy who presented with 2-year history of acral enlargement and facial appearance changes associated with joint pain and excessive sweating. Read More

Indian J Nucl Med 2017 Apr-Jun;32(2):137-139

Department of Nuclear Medicine and PET/CT, Comprehensive Cancer Care Center, Kovai Medical Center and Hospital Limited, Coimbatore, India.

Fibrous dysplasia (FD) of the bone is characterized by the medullary cavity of bones becoming filled with fibrous tissue, and its etiology remains unknown. It is usually asymptomatic and found incidentally on imaging studies that are performed for other purposes. FD may closely mimic the appearance of bony metastatic disease on radiological examinations. Read More

Horm Res Paediatr 2017 19;88(3-4):285-290. Epub 2017 May 19.

Department of Pediatrics, Oita University Faculty of Medicine, Oita, Japan.

Background: Bilateral adrenalectomy is performed in cases with infantile-onset Cushing syndrome due to bilateral adrenal hyperplasia in McCune-Albright syndrome (MAS) because severe Cushing syndrome with heart failure and liver dysfunction can have a lethal outcome. This procedure can completely ameliorate hypercortisolism, although lifetime steroid replacement therapy and steps to prevent adrenal crisis are necessary. Recently, the efficacy of unilateral adrenalectomy has been reported in adult cases of bilateral macronodular adrenal hyperplasia, but there is no consensus regarding the appropriate surgical treatment for bilateral adrenal hyperplasia in MAS. Read More

J Craniofac Surg 2017 May;28(3):801-802

*Department of Neurosurgery, Erzurum Bolge Training and Research Hospital, Erzurum †Department of Neurosurgery, Safa Hospital, Istanbul ‡Department of Pathology, Erzurum Bolge Training and Research Hospital, Erzurum, Turkey.

Fibrous dysplasia (FD) is a rare, benign disease of unclear etiology where normal bone is replaced with abnormal fibrous and weak osseous tissue. Any bone of the skeleton might be involved but skull is one of the most commonly affected sites. Fibrous dysplasia is known to be caused by a genetic mutation leading to inappropriate proliferation and differentiation of osteoblastic cells. Read More

J Craniofac Surg 2017 May;28(3):706-708

*Maxillo-Facial Surgery Unit, at Hôpital Femme Mère Enfant-University Hospital of Lyon, Bron †Rheumatology Unit, at Hôpital Edouard Herriot-University Hospital of Lyon, Lyon, France.

The authors report the case of a 9-year-old child with severe form of hemifacial fibrous dysplasia. The authors review the pathology of this treatment modality through the case description and detail the place of pamidronate in the treatment of fibrous dysplasia. Read More

Orphanet J Rare Dis 2017 04 27;12(1):80. Epub 2017 Apr 27.

Department of Medicine: Division Endocrinology, Center for Bone Quality Leiden University Medical Center, Albinusdreef 2, Postzone J11, PO Box 9600, 2300 RC, Leiden, The Netherlands.

Background: Fibrous dysplasia is a rare bone disorder, commonly associated with pain, deformity and fractures, which may significantly impact on quality of life. In this study we evaluate quality of life in patients with fibrous dysplasia using the Short Form-36 and the Brief Pain Inventory questionnaires. Data were compared with those of the general Dutch population. Read More

J Child Orthop 2017 ;11(1):64-70

Department of Paediatric Orthopaedics, The Royal Children's Hospital, Victoria, Australia.

Aims: The severe form of coxa vara, the 'shepherd's crook deformity', is always a consequence of a locally extensive form of polyostotic fibrous dysplasia (or McCune-Albright syndrome). Treatment of this deformity is a challenge. The soft bone does not tolerate any implant that depends on the stability of the cortical bone (like plates or external fixators). Read More

Open Med (Wars) 2016 16;11(1):465-470. Epub 2016 Nov 16.

Chair of Dental Surgery, Department of Cranio-Maxillofacial Surgery and Oral Surgery, School of Medicine with the Division of Dentistry in Zabrze, Medical University of Silesia in Katowice, Poland.

McCune Albright syndrome (MCA) is a rare complication of genetic origin. The authors present a case study of a patient with MCA diagnosed with multifocal fibrous dysplasia in his limb and craniofacial bones. The symptoms of the disease in the patient's facial and oral tissue and the treatment administered have been described. Read More

Horm Res Paediatr 2017 23;87(5):342-349. Epub 2017 Mar 23.

Department of Public Health and Pediatric Sciences, University of Turin, Regina Margherita Children's Hospital-AOU Città della Salute e della Scienza, Turin, Italy.

Background/aim: The McCune-Albright syndrome (MAS) is a potentially severe disorder hallmarked by fibrous bone dysplasia, café-au-lait skin spots, and endocrine hyperfunction. It is caused by postzygotic activating mutations at the R201 codon of the GNAS gene, leading to a state of somatic mosaicism. Our aim was to improve the mutation detection rate and to quantify the presence of R201 GNAS mutations in different DNA samples from MAS patients. Read More

Eur Ann Otorhinolaryngol Head Neck Dis 2017 Sep 14;134(4):229-235. Epub 2017 Mar 14.

Université Clermont Auvergne, CHU Clermont-Ferrand, Service de Médecine Interne, Hôpital Gabriel Montpied, Inserm U1071, INRA USC2018, M2iSH, 63000 Clermont-Ferrand, France. Electronic address:

Objectives: Fibrous dysplasia of bone is a rare sporadic benign congenital condition in which normal cancellous bone is replaced by fibro-osseous tissue with immature osteogenesis. Sarcomatous transformation is exceptional. Lesions may involve one bone (monostotic) or several (polyostotic). Read More

J Pediatr Endocrinol Metab 2017 May;30(5):587-592

Department of General Surgery, Sisli Hamidiye Etfal Training and Research Hospital, Istanbul.

Background: The objective of this study is to bring attention to the importance of differential diagnosis in adolescent patients with skeletal involvement and hypercalcemia.

Case: A 17-year-old male patient with a complaint of severe leg pain was admitted to our hospital. Seven months before he had a fracture of his distal humerus after falling on to his left shoulder and was treated conservatively. Read More