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    Scoliosis in Fibrous Dysplasia/McCune-Albright Syndrome: Factors Associated with Curve Progression and Effects of Bisphosphonates.
    J Bone Miner Res 2018 Apr 18. Epub 2018 Apr 18.
    Section on Skeletal Disorders and Mineral Homeostasis, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD.
    Background: 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.

    Methods: Clinical data from the NIH cohort study was reviewed. Read More
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    Polyostotic Fibrous Dysplasia With and Without McCune-Albright Syndrome-Clinical Features in a Nordic Pediatric Cohort.
    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
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    Bilateral Tibial Fibrous Dysplasia in a Pediatric Patient treated with Intramedullary Nailing.
    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
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    The curious case of Gαs gain-of-function in neoplasia.
    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
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    [The activating GNAS mutation : A survey of fibrous dysplasia, its associated syndromes, and other skeletal and extraskeletal lesions].
    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
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    Locally Aggressive Fibrous Dysplasia Mimicking Malign Calvarial Lesion.
    J Craniofac Surg 2018 Feb 26. Epub 2018 Feb 26.
    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
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    Constitutive stimulatory G protein activity in limb mesenchyme impairs bone growth.
    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
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    Neonatal Cushing Syndrome: A Rare but Potentially Devastating Disease.
    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
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    The Value of Genetic Testing in Polycystic Kidney Diseases Illustrated by a Family With PKD2 and COL4A1 Mutations.
    Am J Kidney Dis 2018 Jan 27. Epub 2018 Jan 27.
    Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN. Electronic address:
    The diagnosis of autosomal dominant polycystic kidney disease (ADPKD) relies on imaging criteria in the setting of a positive familial history. Molecular analysis, seldom used in clinical practice, identifies a causative mutation in >90% of cases in the genes PKD1, PKD2, or rarely GANAB. We report the clinical and genetic dissection of a 7-generation pedigree, resulting in the diagnosis of 2 different cystic disorders. Read More
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    Classic and Non-Classic Features in Pseudohypoparathyroidism: Case Study and Brief Literature Review.
    Cureus 2017 Nov 26;9(11):e1878. Epub 2017 Nov 26.
    Assistant Clinical Professor of Internal Medicine, West Virginia University School of Medicine.
    Pseudohypoparathyroidism is a rare condition that is due to a defect in the stimulatory G-protein coupled receptor, resulting in end-organ resistance to parathyroid hormone. Hereditary forms of pseudohypoparathyroidism present with certain classic features such as obesity, short stature, brachydactyly, and intellectual disability. Constellation of these physical features is known as Albright's hereditary osteodystrophy. Read More
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    Secondary aneurysmal bone cyst in McCune-Albright syndrome.
    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
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    Treatment of Girls and Boys with McCune-Albright Syndrome with Precocious Puberty - Update 2017.
    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
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    Association of Hearing Loss and Otologic Outcomes With Fibrous Dysplasia.
    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
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    Utility of intraoperative computed tomography for cochlear implantation in patients with difficult anatomy.
    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
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    Induced expression from the endogenous locus causes fibrous dysplasia by up-regulating Wnt/β-catenin signaling.
    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
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    Detection of Rare Somatic GNAS Mutation in McCune-Albright Syndrome Using a Novel Peptide Nucleic Acid Probe in a Single Tube.
    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
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    Bone marrow failure and extramedullary hematopoiesis in McCune-Albright syndrome.
    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
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    Illness Perceptions are Associated with Quality of Life in Patients with Fibrous Dysplasia.
    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
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    Natural history of cranial fibrous dysplasia revealed during long-term follow-up: Case report and literature review.
    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
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    Acromegaly with hypophosphataemia: McCune-Albright syndrome.
    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
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    A population-based description of familial clustering of Hirschsprung's disease.
    J Pediatr Surg 2017 Sep 1. Epub 2017 Sep 1.
    Division of Pediatric Surgery, Primary Children's Hospital, University of Utah, Salt Lake City, UT 84113, USA. Electronic address:
    Background: Familial recurrence of Hirschsprung's disease (HSCR) is well documented, and risk estimates for relatives have been reported from various populations. We describe the familial clustering of HSCR cases using well-established unbiased familial aggregation techniques within the context of a population genealogy.

    Methods: Patients included 264 HSCR cases identified using ICD-9 diagnosis coding from the two largest healthcare providers in Utah who also had linked genealogy data. Read More
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    Internal Validation of the Sepsis in Obstetrics Score to Identify Risk of Morbidity From Sepsis in Pregnancy.
    Obstet Gynecol 2017 Oct;130(4):747-755
    Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Women and Infants Hospital, Alpert Medical School of Brown University, Providence, Rhode Island; the Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, University of Washington Medical Center, Seattle, Washington; and the Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Duke University, Durham, North Carolina.
    Objective: To prospectively validate the Sepsis in Obstetrics Score, a pregnancy-specific sepsis scoring system, to identify risk for intensive care unit (ICU) admission for sepsis in pregnancy.

    Methods: This is a prospective validation study of the Sepsis in Obstetrics Score. The primary outcome was admission to the ICU for sepsis. Read More
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    Increased Risk of Breast Cancer at a Young Age in Women with Fibrous Dysplasia.
    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
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    Mazabraud syndrome associated with McCune-Albright syndrome: a case report and review of the literature.
    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
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    18F-FDG PET/CT of Secondary Epithelioid Angiosarcoma of the Proximal Femur in a Patient With Polyostotic Fibrous Dysplasia.
    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
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    GNAS Mutations: Drivers or Co-Pilots? Yet, Promising Diagnostic Biomarkers.
    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
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    Long-term health outcomes of adults with McCune-Albright syndrome.
    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
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    2q37 Deletion syndrome confirmed by high-resolution cytogenetic analysis.
    Ann Pediatr Endocrinol Metab 2017 Jun 28;22(2):129-132. Epub 2017 Jun 28.
    Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
    Chromosome 2q37 deletion syndrome is a rare chromosomal disorder characterized by mild to moderate developmental delay, brachydactyly of the third to fifth digits or toes, short stature, obesity, hypotonia, a characteristic facial appearance, and autism spectrum disorder. Here, we report on a patient with 2q37 deletion presenting with dilated cardiomyopathy (DCMP). Congenital heart malformations have been noted in up to 20% of patients with 2q37 deletions. Read More
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    Effect of Intranasal Calcitonin in a Patient with McCune-Albright Syndrome, Fibrous Dysplasia, and Refractory Bone Pain.
    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
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    Bisphosphonate-induced zebra lines in fibrous dysplasia of bone: histo-radiographic correlation in a case of McCune-Albright syndrome.
    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
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    Rectal Metyrapone for Treatment of Hypercortisolism in an Infant with McCune-Albright Syndrome.
    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
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    High-dose hydroxocobalamin for vasoplegic syndrome causing false blood leak alarm.
    Clin Kidney J 2017 Jun 15;10(3):357-362. Epub 2017 Mar 15.
    Department of Internal Medicine, Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN, USA.
    Blood leak alarms are important safety features in a hemodialysis machine to protect patients from loss of blood through a rupture in the dialyzer membrane (true alarms). A false blood leak alarm can be triggered by air bubbles or detector malfunction (such as deposits of grease or scale). Hydroxocobalamin is an injectable form of vitamin B12 approved by the US Food and Drug Administration for the treatment of confirmed or suspected cyanide toxicity. Read More
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    Frequency of GNAS R201H substitution mutation in polyostotic fibrous dysplasia: Pyrosequencing analysis in tissue samples with or without decalcification.
    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
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    Pachydermoperiostosis: a rare mimicker of acromegaly.
    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
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    Image Findings of Polyostotic Fibrous Dysplasia Mimicking Metastasis in F-18 FDG Positron Emission Tomography/Computed Tomography.
    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
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    Three-Quarters Adrenalectomy for Infantile-Onset Cushing Syndrome due to Bilateral Adrenal Hyperplasia in McCune-Albright Syndrome.
    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
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    Might Trauma Be a Triggering Factor for Craniofacial Fibrous Dysplasia?
    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
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    Giant Hemifacial Fibrous Dysplasia Functional Treatment and Place of Pamidronate.
    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
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    Determinants of impaired quality of life in patients with fibrous dysplasia.
    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
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    Treatment of shepherd's crook deformity in patients with polyostotic fibrous dysplasia using a new type of custom made retrograde intramedullary nail: a technical note.
    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
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    Isolated brachydactyly type E and idiopathic pancreatitis in a patient presenting to a lipid disorders clinic.
    BMJ Case Rep 2017 Apr 6;2017. Epub 2017 Apr 6.
    Department of Clinical Biochemistry, Royal Perth Hospital and Fiona Stanley Hospital Network, Perth, Australia
    An 18-year-old female tertiary student was referred to a lipid clinic with hypertriglyceridaemia discovered after presentation with acute pancreatitis. The patient's only medication was l-thyroxine for treatment of hypothyroidism. She was overweight, normotensive, with unremarkable facies. Read More
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    Maxillary fibrous dysplasia associated with McCune-Albright syndrome. A case study.
    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
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    Combining Real-Time COLD- and MAMA-PCR TaqMan Techniques to Detect and Quantify R201 GNAS Mutations in the McCune-Albright Syndrome
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    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
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    Craniofacial fibrous dysplasia: A 10-case series.
    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
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    Giant parathyroid adenoma associated with severe hypercalcemia in an adolescent patient.
    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
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