2,131 results match your criteria Albright Syndrome


A Regression Model for Prediction of Cesarean-Associated Blood Transfusion.

Am J Perinatol 2019 Feb 11. Epub 2019 Feb 11.

Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Women and Infants Hospital, Alpert Medical School of Brown University, Providence, Rhode Island.

Objective:  To develop a model to predict cesarean-associated red blood cell transfusion.

Study Design:  Secondary analysis of all cesarean deliveries in the Maternal-Fetal Medicine Units Network Cesarean Registry. Using a split-sample technique, the derivation group was used to identify associated factors and build predictive models, and the validation group was used to estimate classification errors and determine test characteristics. Read More

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http://dx.doi.org/10.1055/s-0039-1678604DOI Listing
February 2019
1 Read

McCune-Albright Syndrome and the shepherd crook deformity.

Joint Bone Spine 2019 Jan 31. Epub 2019 Jan 31.

Rheumatology Department, Centro Hospitalar e Universitario de Coimbra EPE, Coimbra, Portugal.

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http://dx.doi.org/10.1016/j.jbspin.2019.01.010DOI Listing
January 2019

A rare case report of craniofacial fibrous dysplasia.

J Oral Maxillofac Pathol 2018 Sep-Dec;22(3):406-409

Department of Oral Pathology, School of Dental Sciences, Sharda University, Greater Noida, Uttar Pradesh, India.

Fibrous dysplasia (FD) is a fibro-osseous lesion of the osseous structures of the body. The exact cause is unknown; however, recently, the cause has been reported to be postzygomatic somatic mutation in guanine nucleotide-binding protein, alpha stimulating 1 gene located at chromosome 20q13.2. Read More

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http://dx.doi.org/10.4103/jomfp.JOMFP_211_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6306600PMC
January 2019
5 Reads

Age-Related Changes and Effects of Bisphosphonates on Bone Turnover and Disease Progression in Fibrous Dysplasia of Bone.

J Bone Miner Res 2019 Jan 15. Epub 2019 Jan 15.

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

Fibrous dysplasia (FD) is a mosaic disease in which bone is replaced with fibro-osseous tissue. Lesions expand during childhood, reaching final burden by age 15 years. In vitro data suggest that disease activity decreases in adulthood; however, there is no clinical data to support this concept. Read More

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http://doi.wiley.com/10.1002/jbmr.3649
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http://dx.doi.org/10.1002/jbmr.3649DOI Listing
January 2019
6 Reads

Hepatic Lesions Associated with McCune Albright Syndrome.

J Pediatr Gastroenterol Nutr 2019 Jan 4. Epub 2019 Jan 4.

Division of Gastroenterology, Hepatology and Nutrition, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA, USA.

McCune Albright Syndrome (MAS) results from a GNAS gene mutation. It is associated with café-au-lait macules, fibrous dysplasia, and several endocrinopathies to include gonadotropin-independent precocious puberty, growth hormone excess, Cushing syndrome, thyroid disease, and renal phosphate wasting. It is recognised to be a rare cause of neonatal cholestasis. Read More

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http://dx.doi.org/10.1097/MPG.0000000000002266DOI Listing
January 2019
1 Read

Serum periostin levels and severity of fibrous dysplasia of bone.

Bone 2019 Jan 4;121:68-71. Epub 2019 Jan 4.

INSERM UMR 1033, Université de Lyon, Division of Rheumatology, Edouard Herriot University Hospital, 5 Place d'Arsonval, 69003 Lyon, France.

Fibrous dysplasia of bone (FD) is a rare congenital bone disease, characterized by a fibrous component in the bone marrow. Periostin has been extensively researched because of its implication in various fibrotic or inflammatory diseases. Periostin may be associated with the burden or the severity of FD. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S87563282193000
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http://dx.doi.org/10.1016/j.bone.2019.01.004DOI Listing
January 2019
6 Reads

A Case of Fibrous Dysplasia with Bilateral Shepherd Crook Deformity Treated with Dynamic Hip Screw Fixation.

J Orthop Case Rep 2018 May-Jun;8(3):33-37

Department of Orthopaedics, Sri Ramachandra Medical University, Chennai, Tamil Nadu, India.

Introduction: Fibrous dysplasia is a rare benign disorder of the skeletal system characterized by fibro-osseous proliferation with intervening areas of normal or immature bone in the intramedullary region. It can either be a monostotic (involves one bone) or a polyostotic (involves more than one bone) presentation and usually occurs equally in males and females. Deformities such as scoliosis and shepherd's crook deformity are frequently encountered in the polyostotic form. Read More

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http://dx.doi.org/10.13107/jocr.2250-0685.1096DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6298711PMC
December 2018
2 Reads

An update on the genetics of benign pituitary adenomas in children and adolescents.

Curr Opin Endocr Metab Res 2018 Aug 24;1:19-24. Epub 2018 Apr 24.

Section on Endocrinology & Genetics (SEGEN), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, 20892, USA.

Pituitary adenomas in children and adolescents are rare tumors that often result from a tumor predisposition syndrome. Several inherited causes for pituitary adenomas have been identified in the last few years, including multiple endocrine neoplasia type 1 and 4, Carney's complex, Tuberous sclerosis, DICER1 syndrome, neurofibromatosis type 1, McCune Albright syndrome, familial isolated pituitary adenoma, and pituitary adenoma association due to defects in succinate dehydrogenase genes. Recently, our group discovered X-linked acrogigantism (X-LAG), a new pediatric disorder that is caused by an Xq26. Read More

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http://dx.doi.org/10.1016/j.coemr.2018.04.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6289528PMC
August 2018
3 Reads

First two cases of craniomaxillofacial fibrous dysplasia from Nepal - case series.

Clin Cosmet Investig Dent 2018 26;10:269-274. Epub 2018 Nov 26.

Department of Oral and Maxillofacial Surgery, Chitwan Medical College and Teaching Hospital, Bharatpur-10, Chitwan, Nepal.

Fibrous dysplasia is a benign fibro-osseous disease of the bone, which is most commonly associated with congenital mutations in cAMP regulating protein Gsα coded by gene. Often it is seen involving the craniofacial skeleton and can range from an asymptomatic monostotic form to polyostotic variant involving almost all the bones of the skull, thereby leading to functional and esthetic problems. This requires a continuous monitoring of the involved region throughout the life of the patient, even after the surgical interventions. Read More

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http://dx.doi.org/10.2147/CCIDE.S178599DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6263244PMC
November 2018
1 Read

Germline and mosaic mutations causing pituitary tumours: genetic and molecular aspects.

J Endocrinol 2019 Feb;240(2):R21-R45

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

While 95% of pituitary adenomas arise sporadically without a known inheritable predisposing mutation, in about 5% of the cases they can arise in a familial setting, either isolated (familial isolated pituitary adenoma or FIPA) or as part of a syndrome. FIPA is caused, in 15-30% of all kindreds, by inactivating mutations in the AIP gene, encoding a co-chaperone with a vast array of interacting partners and causing most commonly growth hormone excess. While the mechanisms linking AIP with pituitary tumorigenesis have not been fully understood, they are likely to involve several pathways, including the cAMP-dependent protein kinase A pathway via defective G inhibitory protein signalling or altered interaction with phosphodiesterases. Read More

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http://dx.doi.org/10.1530/JOE-18-0446DOI Listing
February 2019
1 Read

Activation of RANK/RANKL/OPG Pathway Is Involved in the Pathophysiology of Fibrous Dysplasia and Associated With Disease Burden.

J Bone Miner Res 2019 Feb 29;34(2):290-294. Epub 2018 Nov 29.

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

Fibrous dysplasia of bone (FD) is a mosaic disease caused by mutations in GNAS. Constitutive activation of the α-subunit of the G stimulatory protein (Gαs) leads to dysregulated proliferation of bone marrow stromal cells (BMSCs), generating expansile lesions of fibrotic tissue and abnormal bone. Local bone remodeling regulation by BMSCs is also altered, and FD tissue is characterized by abundant osteoclast-like cells that may be essential for lesion expansion. Read More

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http://doi.wiley.com/10.1002/jbmr.3602
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http://dx.doi.org/10.1002/jbmr.3602DOI Listing
February 2019
13 Reads

Fibrous dysplasia for radiologists: beyond ground glass bone matrix.

Insights Imaging 2018 Dec 27;9(6):1035-1056. Epub 2018 Nov 27.

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

Fibrous dysplasia (FD) is a congenital disorder arising from sporadic mutation of the α-subunit of the Gs stimulatory protein. Osseous changes are characterised by the replacement and distortion of normal bone with poorly organised, structurally unsound, fibrous tissue. The disease process may be localised to a single or multiple bones. Read More

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http://dx.doi.org/10.1007/s13244-018-0666-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6269335PMC
December 2018
3 Reads

[McCune-Albright syndrome with hyperthyroidism: report of one case and review of literature].

Shanghai Kou Qiang Yi Xue 2018 Aug;27(4):445-448

Department of Stomatology, Central Hospital of Xuzhou City. Xuzhou 221009, Jiangsu Province, China.

McCune-Albright Syndrome(MAS) is a rare disease characterized by triad of polyostotic fibrous dysplasia of bone(FD), precocious puberty, and café-au-lait skin pigmentation. This paper reported a case of McCune-Albright syndrome with hyperthyroidism, and discussed the pathogenesis, clinical manifestations, diagnosis and treatment of MAS. Read More

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August 2018
10 Reads

Management of precocious puberty in girls with McCune-Albright syndrome using letrozole.

Authors:
Xi Wang Qi Yu

Endocr Connect 2018 Dec;7(12):1424-1431

Department of Obstetrics and Gynaecology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.

Objective To evaluate the safety and efficacy of letrozole in girls with progressive precocious puberty (PP) associated with McCune-Albright syndrome (MAS). Design Monocentric retrospective cross-sectional and longitudinal study of consecutive patients. Patients Ten MAS patients treated at Peking Union Medical College Hospital between September 1999 and December 2017 were retrospectively reviewed; those with complications due to PP were followed. Read More

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http://dx.doi.org/10.1530/EC-18-0344DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6300860PMC
December 2018
1 Read

Clinical and translational pharmacological aspects of the management of fibrous dysplasia of bone.

Br J Clin Pharmacol 2018 Nov 24. Epub 2018 Nov 24.

Department of Medicine, Division of Endocrinology & Centre for Bone Quality, Leiden University Medical Center, Leiden, the Netherlands.

Fibrous dysplasia (FD) is a genetic, noninheritable rare bone disease caused by a postzygotic activating mutation of the α subunit of the stimulatory G-protein causing increased abnormal bone formation leading to pain, deformity and fractures. To date, no cure has been identified for FD/McCune-Albright syndrome (MAS) and treatment is symptomatic and aimed at decreasing pain and/or local bone turnover. Various drugs have been used to achieve clinical improvement in FD/MAS patients including bisphosphonates and denosumab, however further translational studies are also warranted to address unresolved pathophysiological issues and explore novel pharmacological targets for the management of FD/MAS. Read More

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http://doi.wiley.com/10.1111/bcp.13820
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http://dx.doi.org/10.1111/bcp.13820DOI Listing
November 2018
9 Reads

A man with facial disfigurement.

Pan Afr Med J 2018;30:196. Epub 2018 Jul 5.

Excellence Center in Diabetes, Hormones and Metabolism, King Chulalongkorn Memorial Hospital, Bangkok, Thailand.

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http://dx.doi.org/10.11604/pamj.2018.30.196.16299DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6235515PMC
December 2018
2 Reads

Phenotypic testicular abnormalities and pubertal development in boys with McCune-Albright syndrome.

Ital J Pediatr 2018 Nov 19;44(1):136. Epub 2018 Nov 19.

Department of Human Pathology in Adulthood and Childhood, University of Messina, Via Consolare Valeria, 98124, Messina, Italy.

Aim of this survey is to review the few available literature data on pathophysiologic and clinical aspects of pubertal development in boys with McCune-Albright syndrome (MAS). On the basis of such analysis, we concluded that:1) peripheral precocious puberty (PPP) is significantly more infrequent in boys than in girls; 2) the most common testicular abnormality at MAS presentation is macroorchidism, that may be either monolateral or bilateral; 3) macroorchidism is not always associated with clinical and biochemical evidence of PPP; 4) testicular microlothiasis is distinctly more frequent in boys with MAS than in those without MAS; 5) the available therapeutic schedules have to be adopted already at MAS presentation only in the cases with PPP. Read More

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http://dx.doi.org/10.1186/s13052-018-0577-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6245937PMC
November 2018
1 Read

Using Digital Droplet Polymerase Chain Reaction to Detect the Mosaic GNAS Mutations in Whole Blood DNA or Circulating Cell-Free DNA in Fibrous Dysplasia and McCune-Albright Syndrome.

J Pediatr 2019 Feb 13;205:281-285.e4. Epub 2018 Nov 13.

Aix Marseille Univ, APHM, INSERM, MMG, Hôpital de la Conception, Laboratory of Molecular Biology, Marseille, France.

The GNAS postzygotic mosaic activating mutations involved in fibrous dysplasia and McCune-Albright syndrome (MAS) are not detectable in leukocytes by Sanger sequencing. Digital droplet polymerase chain reaction detects GNAS mutations in 7 of 12 patients (58.3%) suspected to have fibrous dysplasia/MAS from whole blood DNA, and in 4 of 5 patients (80%) from circulating cell-free DNA. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00223476183140
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http://dx.doi.org/10.1016/j.jpeds.2018.09.070DOI Listing
February 2019
12 Reads

Mosaic Effects of Growth Hormone on Fibrous Dysplasia of Bone.

N Engl J Med 2018 11;379(20):1964-1965

National Institutes of Health, Bethesda, MD

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http://dx.doi.org/10.1056/NEJMc1808583DOI Listing
November 2018
23 Reads

EFFICACY AND SAFETY OF BISPHOSPHONATE THERAPY IN MCCUNE-ALBRIGHT SYNDROME-RELATED POLYOSTOTIC FIBROUS DYSPLASIA: A SINGLE-CENTER EXPERIENCE.

Endocr Pract 2019 Jan 1;25(1):23-30. Epub 2018 Nov 1.

Objective: Fibrous dysplasia (FD) is a rare disorder characterized by pain, deformity, and pathologic fractures. McCune-Albright syndrome (MAS) includes a combination of FD, hyperfunctional endocrinopathy, and/or café-au-lait pigmentation. Surgery is generally ineffective in treating FD. Read More

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http://dx.doi.org/10.4158/EP-2018-0328DOI Listing
January 2019
13 Reads

Regulation of anti-Müllerian hormone (AMH) in males and the associations of serum AMH with the disorders of male fertility.

Asian J Androl 2018 Oct 26. Epub 2018 Oct 26.

Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing 100191, China.

Anti-Müllerian hormone (AMH) is a functional marker of fetal Sertoli cells. The germ cell number in adults depends on the number of Sertoli cells produced during perinatal development. Recently, AMH has received increasing attention in research of disorders related to male fertility. Read More

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http://dx.doi.org/10.4103/aja.aja_83_18DOI Listing
October 2018
8 Reads

Fibrous dysplasia of the jaws: Integrating molecular pathogenesis with clinical, radiological, and histopathological features.

J Oral Pathol Med 2019 Jan 20;48(1):3-9. Epub 2018 Nov 20.

Department of Oral Surgery and Pathology, School of Dentistry, Universidade Federal de Minas Gerais (UFMG), Belo Horizonte, Minas Gerais, Brazil.

Fibrous dysplasia is a non-neoplastic developmental process that affects the craniofacial bones, characterized by painless enlargement as a result of bone substitution by abnormal fibrous tissue. Postzygotic somatic activating mutations in the GNAS1 gene cause fibrous dysplasia and have been extensively investigated, as well as being helpful in the differential diagnosis of the disease. Fibrous dysplasia may involve one (monostotic) or multiple bones (polyostotic), sporadically or in association with McCune-Albright syndrome, Jeffe-Lichenstein syndrome, or Mazabreud syndrome. Read More

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http://doi.wiley.com/10.1111/jop.12797
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http://dx.doi.org/10.1111/jop.12797DOI Listing
January 2019
6 Reads

Brachydactyly Mental Retardation Syndrome Diagnosed in Adulthood.

Cureus 2018 Aug 21;10(8):e3169. Epub 2018 Aug 21.

Internal Medicine, Icahn School of Medicine at Mount Sinai/Queens Hospital Center, New York, USA.

Brachydactyly mental retardation syndrome (BDMR) is due to a rare, small chromosomal deletion of 2q37, and manifests with variable signs and symptoms in people who live with it. BDMR could be misdiagnosed as Albright hereditary osteodystrophy (AHO), because it presents with lack of hormone resistance to parathyroid hormone (PTH) and similar skeletal and craniofacial abnormalities; however, BDMR is far rarer and can present with a different phenotype. In some cases, BDMR patients exhibit malformations of the internal organs, which could cause life-threatening health issues. Read More

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http://dx.doi.org/10.7759/cureus.3169DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6197535PMC
August 2018
2 Reads

Case report: An infantile lethal form of Albright hereditary osteodystrophy due to a mutation.

Clin Case Rep 2018 Oct 16;6(10):1933-1940. Epub 2018 Aug 16.

Centre de Génétique Humaine Institut de Pathologie et de Génétique Gosselies Belgium.

Germline loss-of-function mutations are associated with multiple phenotypes, depending on the parental origin of the mutant allele. Here, we describe an infantile lethal form of atypical pseudohypoparathyroidism type 1a or 1c with severe Albright's hereditary osteodystrophy phenotype, underlying the extremely variable expressivity of this syndrome. Read More

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http://doi.wiley.com/10.1002/ccr3.1739
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http://dx.doi.org/10.1002/ccr3.1739DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6186887PMC
October 2018
10 Reads

Pathological fracture of the humerus and subsequent diagnosis of polyostotic fibrous dysplasia.

Rev Clin Esp 2018 Oct 17. Epub 2018 Oct 17.

Servicio de Medicina Interna, Hospital de Cabueñes, Gijón, Asturias, España.

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http://dx.doi.org/10.1016/j.rce.2018.09.008DOI Listing
October 2018
2 Reads

A new multi-system disorder caused by the Gαs mutation p.F376V.

J Clin Endocrinol Metab 2018 Oct 11. Epub 2018 Oct 11.

Department for Pediatric Endocrinology and Diabetology; Berlin, Germany.

Context: The alpha-subunit of the stimulatory G-protein (Gαs) links numerous receptors to adenylyl cyclase. Gαs, encoded by GNAS, is expressed predominantly from the maternal allele in certain tissues. Thus, maternal heterozygous loss-of-function mutations cause hormonal resistance, as in pseudohypoparathyroidism type Ia, while somatic gain-of-function mutations cause hormone-independent endocrine stimulation, as in McCune-Albright Syndrome. Read More

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http://dx.doi.org/10.1210/jc.2018-01250DOI Listing
October 2018
3 Reads

[Retrospective analysis of 273 benign fibro osseous lesionsin the sinus and maxillofacial region].

Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 2018 Aug;32(15):1188-1191

Department of Rhinology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, China.

To compare and analyze the incidence, clinical features ,imaging features, the preoperative serum alkalinosis phosphatase (ALP) and recurrence rates of osteoma, ossifying fibroma (OF), and fibrous dysplasia (FD) in sinus and maxillofacial benign fibrosis (FOLS). The 273 cases of FOLS with paranasal sinus and maxillofacial region in our hospital, among which there were 153 cases of osteoma, 44 cases of OF, and 76 cases of FD, were reviewed retrospectively and were follow-up for 6 months to 5 years. The incidence, gender, age, lesion location, preoperative serum ALP levels and recurrence rate of different lesions were analyzed and compared. Read More

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http://www.cnki.net/kcms/doi/10.13201/j.issn.1001-1781.2018.
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http://dx.doi.org/10.13201/j.issn.1001-1781.2018.15.015DOI Listing
August 2018
3 Reads

Craniofacial polyostotic fibrous dysplasia: imaging findings.

Radiologia 2018 Sep 17. Epub 2018 Sep 17.

Hospital Universitario Virgen de las Nieves, Granada, España.

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https://linkinghub.elsevier.com/retrieve/pii/S00338338183015
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http://dx.doi.org/10.1016/j.rx.2018.08.002DOI Listing
September 2018
6 Reads

Short stature and growth hormone deficiency: unexpected manifestations of McCune-Albright syndrome.

BMJ Case Rep 2018 Aug 27;2018. Epub 2018 Aug 27.

Department of Radiology, Princess Marina Hospital, Gaborone, Botswana.

McCune-Albright syndrome (MAS) is a rare disease characterised by triad of monostotic or polyostotic fibrous dysplasia, café au-lait skin spots and a variety of endocrine disorders; precocious puberty (PP) being the most common presenting symptom in female patients. Hyperfunction endocrinopathies including hyperthyroidism, growth hormone excess and cortisol excess are typical presentations in MAS. We present a case of 21-year-old woman with clinical and radiological characteristics of MAS triad; she presented with short stature which was attributed to both growth hormone deficiency and PP. Read More

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http://casereports.bmj.com/lookup/doi/10.1136/bcr-2018-22570
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http://dx.doi.org/10.1136/bcr-2018-225709DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6119388PMC
August 2018
11 Reads

Clinical and Radiographic Gastrointestinal Abnormalities in McCune-Albright Syndrome.

J Clin Endocrinol Metab 2018 Nov;103(11):4293-4303

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

Context: McCune-Albright syndrome (MAS) is a rare disorder characterized by fibrous dysplasia of bone, café-au-lait macules, and hyperfunctioning endocrinopathies. It arises from somatic gain-of-function mutations in GNAS, which encodes the cAMP-regulating protein Gαs. Somatic GNAS mutations have been reported in intraductal papillary mucinous neoplasms (IPMNs) and various gastrointestinal (GI) tumors. Read More

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http://dx.doi.org/10.1210/jc.2018-01022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6194803PMC
November 2018
9 Reads

Brachydactyly mental retardation syndrome with growth hormone deficiency.

Endocrinol Diabetes Metab Case Rep 2018 21;2018. Epub 2018 Jul 21.

School of Medicine, Islamic Azad University Medical Branch of Tehran, Tehran, Iran.

Deletion of chromosome 2q37 results in a rare congenital syndrome known as brachydactyly mental retardation (BDMR) syndrome; a syndrome which has phenotypes similar to Albright hereditary osteodystrophy (AHO) syndrome. In this report, we describe a patient with AHO due to microdeletion in long arm of chromosome 2 [del(2)(q37.3)] who had growth hormone (GH) deficiency, which is a unique feature among reported BDMR cases. Read More

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http://dx.doi.org/10.1530/EDM-18-0068DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6063990PMC
July 2018
2 Reads

Laugier-Hunziker syndrome in endocrine clinical practice.

Endocrinol Diabetes Metab Case Rep 2018 26;2018. Epub 2018 Jul 26.

Departments of Endocrinology, Diabetes and Metabolic Diseases.

Laugier-Hunziker syndrome (LHS) is a rare, benign and acquired disorder characterized by hyperpigmentation of the oral cavity and lips along with longitudinal melanonychia. No underlying systemic abnormalities or malignant predisposition is associated with it. In everyday clinical practice, an endocrinologist encounters certain endocrine conditions (e. Read More

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http://dx.doi.org/10.1530/EDM-18-0025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6063988PMC
July 2018
16 Reads

Surgical Correction of Proptosis in Craniofacial Benign Bone Lesions Involving the Orbit.

J Craniofac Surg 2018 Oct;29(7):1760-1766

Department of Plastic and Reconstructive Surgery, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

Craniofacial bone lesions involving the orbit are often associated with symptoms, including proptosis, orbital dystopia, and overall facial asymmetry. Fibrous dysplasia and osteoma are the 2 most commonly observed bone tumors in the craniofacial area. Nine patients with either craniofacial fibrous dysplasia or osteoma and an unacceptable aesthetic appearance were treated from January 2015 to July 2016. Read More

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http://dx.doi.org/10.1097/SCS.0000000000004799DOI Listing
October 2018
23 Reads

Concomittant fibrous dysplasia with aneurysmal bone cyst formation within the skull, humerus and rib.

J Surg Case Rep 2018 Jul 21;2018(7):rjy180. Epub 2018 Jul 21.

Department of Neurological Surgery, University of California, Riverside School of Medicine, Riverside, CA, USA.

Polyostotic fibrous dysplasia (FD) is a rare pathology characterized by the abnormal and gradual replacement of normal bone (calcium hydroxylapatite of osteoid matrix) with fibrous connective tissue. Aneurysmal bone cyst (ABC) is a tumor-like benign lesion with blood-filled cavities that can affect virtually any bone in the body. We report on a 20-year-old male presenting with an extremely rare pathology of FD with ABC formation of the skull, fourth rib and humerus. Read More

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http://dx.doi.org/10.1093/jscr/rjy180DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6055640PMC
July 2018
4 Reads

Severe Neonatal Cholestasis as an Early Presentation of McCune Albright Syndrome.

J Clin Res Pediatr Endocrinol 2018 Jul 11. Epub 2018 Jul 11.

Division of Endocrinology, Hospital for Sick Children, University of Toronto, Toronto, Canada.

McCune-Albright syndrome (MAS) is a rare genetic disorder characterized by café-au-lait macules, polyostotic fibrous dysplasia and multiple endocrinopathies. Liver involvement, although described, is a rare complication. We review the case of a child with MAS whose initial presentation was characterized by severe neonatal cholestasis. Read More

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http://dx.doi.org/10.4274/jcrpe.0110DOI Listing
July 2018
3 Reads

Peculiarities of Precocious Puberty in Boys and Girls With McCune-Albright Syndrome.

Front Endocrinol (Lausanne) 2018 22;9:337. Epub 2018 Jun 22.

Unit of Pediatrics, Department of Human Pathology of Adulthood and Childhood, University of Messina, Messina, Italy.

McCune-Albright Syndrome (MAS; OMIM # 174800) is a rare, sporadic disease caused by a post-zygotic, activating mutation in the guanine-nucleotide binding protein α-subunit () gene. MAS is characterized by the clinical triad of polyostotic fibrous dysplasia of bone, skin pigmentation and peripheral precocious puberty. However, clinical presentation is highly variable depending on mosaic tissue distribution of mutant-bearing cells. Read More

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http://dx.doi.org/10.3389/fendo.2018.00337DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6023984PMC
June 2018
27 Reads

Head and neck manifestations of an undiagnosed McCune-Albright syndrome: clinicopathological description and literature review.

Virchows Arch 2018 Nov 8;473(5):645-648. Epub 2018 Jul 8.

Molecular (Epi)Genetic lab, Araba University Hospital, BioAraba National Health Institute, Vitoria, Spain.

Craniofacial fibrous dysplasia, characteristic of McCune-Albright syndrome (MAS), is usually present in patients with MAS-related acromegaly. We report here the first case of a patient with an undiagnosed MAS presenting with an acute hydrocephalus. A 21-year-old male with gigantism and craniofacial fibrous dysplasia consulted for rapidly progressive headache. Read More

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http://dx.doi.org/10.1007/s00428-018-2396-zDOI Listing
November 2018
11 Reads

Fibrous dysplasia of bone: Surgical management options and outcomes of 22 cases.

Mol Clin Oncol 2018 Jul 21;9(1):98-103. Epub 2018 May 21.

Department of Orthopedics, West China School of Medicine, West China Hospital, Sichuan University, Chengdu, Sichuan 610064, P.R. China.

The surgical treatment for fibrous dysplasia (FD) of bone is problematic due to its variable clinical courses. And multifarious surgical treatment options have been reported while no consistent view can be reached. Therefore, we reviewed a series of 22 patients (11 males and 11 females; mean age 28. Read More

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http://dx.doi.org/10.3892/mco.2018.1636DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6031034PMC
July 2018
3 Reads

Craniofacial Polyostotic Fibrous Dysplasia Initially Diagnosed in a Primary Care Unit.

Korean J Fam Med 2019 Jan 6;40(1):58-60. Epub 2018 Jul 6.

Mealhada Primary Health Care Unit, Mealhada, Portugal.

Fibrous dysplasia (FD) is a non-malignant bone tumor that typically behaves as a slow and indolent growing mass lesion. We report the case of a female patient presenting with headache and facial deformity and later diagnosed with polyostotic fibrous dysplasia (PFD). A 29-year-old woman visited Mealhada Primary Health Care Unit complaining of headache, nasal congestion, and hyposmia for several weeks. Read More

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http://dx.doi.org/10.4082/kjfm.17.0129DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6351795PMC
January 2019
3 Reads

Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement.

Nat Rev Endocrinol 2018 Aug;14(8):476-500

APHP, Reference Center for Rare Disorders of Calcium and Phosphate Metabolism, Platform of Expertise Paris-Sud for Rare Diseases and Filière OSCAR, Bicêtre Paris Sud Hospital (HUPS), Le Kremlin-Bicêtre, France.

This Consensus Statement covers recommendations for the diagnosis and management of patients with pseudohypoparathyroidism (PHP) and related disorders, which comprise metabolic disorders characterized by physical findings that variably include short bones, short stature, a stocky build, early-onset obesity and ectopic ossifications, as well as endocrine defects that often include resistance to parathyroid hormone (PTH) and TSH. The presentation and severity of PHP and its related disorders vary between affected individuals with considerable clinical and molecular overlap between the different types. A specific diagnosis is often delayed owing to lack of recognition of the syndrome and associated features. Read More

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http://www.nature.com/articles/s41574-018-0042-0
Publisher Site
http://dx.doi.org/10.1038/s41574-018-0042-0DOI Listing
August 2018
49 Reads

Case Report of a Satin Guinea Pig with Fibrous Osteodystrophy That Resembles Human Pseudohypoparathyroidism.

Authors:
Miguel Gallego

Case Rep Vet Med 2017 27;2017:1321656. Epub 2017 Jul 27.

Centro Veterinario Madrid Exóticos, Madrid, Spain.

A case report of a 2-year-old female satin guinea pig with a history of dental overgrowth and lameness and radiological lesions of fibrous osteodystrophy is presented. The most relevant clinical findings were bone demineralization, high level of parathyroid hormone (PTH), normophosphatemia, normal ionized calcium, and low total thyroxine (tT4) with a normal renal function. Long-term treatment was based on teeth coronal reduction and maintaining a balanced diet. Read More

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http://dx.doi.org/10.1155/2017/1321656DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6005281PMC
July 2017
2 Reads

Passive Coping Strategies Are Associated With More Impairment In Quality Of Life In Patients With Fibrous Dysplasia.

Calcif Tissue Int 2018 Nov 13;103(5):469-475. Epub 2018 Jun 13.

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

Impairments in quality of life (QoL) have been reported in patients with fibrous dysplasia (FD). Here, we examine coping strategies in FD and assess whether these coping strategies are associated with QoL and disease severity. Ninety-two patients (66% females) filled out the Utrecht Coping List (UCL), Short Form-36, and the Brief Pain Inventory (BPI). Read More

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http://dx.doi.org/10.1007/s00223-018-0441-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6182587PMC
November 2018
4 Reads

Chiari I Malformation and Basilar Invagination in Fibrous Dysplasia: Prevalence, Mechanisms, and Clinical Implications.

J Bone Miner Res 2018 Nov 3;33(11):1990-1998. Epub 2018 Aug 3.

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

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

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http://dx.doi.org/10.1002/jbmr.3531DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6218312PMC
November 2018
22 Reads
6.832 Impact Factor

Fibrous dysplasia imitating malignancy.

J Craniomaxillofac Surg 2018 Aug 12;46(8):1313-1319. 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

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http://dx.doi.org/10.1016/j.jcms.2018.05.019DOI Listing
August 2018
22 Reads

Airway Management during Thyroidectomy for a Giant Goitre due to McCune-Albright Syndrome.

Authors:
Hiroyuki Nakao

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

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http://dx.doi.org/10.1155/2018/4219187DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5960512PMC
May 2018
5 Reads

Fibrous Dysplasia: Clinicopathologic Presentation of 36 Cases.

Turk Patoloji Derg 2018 ;34(3):234-241

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

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http://dx.doi.org/10.5146/tjpath.2018.01428DOI Listing
December 2018
6 Reads