1,921 results match your criteria McCune-Albright Syndrome


Polyostotic Fibrous Dysplasia Mimicking Osseous Metastases.

Cureus 2019 Jan 14;11(1):e3884. Epub 2019 Jan 14.

Internal Medicine, Florida Hospital, Orlando, USA.

Fibrous dysplasia (FD) is a benign bone disorder, in which normal bone structure is replaced by fibrous connective tissue. Polyostotic FD is also related to McCune-Albright syndrome with possible endocrine disorder and Cafe-au-lait macules. Although FD commonly presents as craniofacial bone abnormality, atypical presentation can be misleading and pose a difficulty in clinical diagnosis. Read More

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http://dx.doi.org/10.7759/cureus.3884DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6420325PMC
January 2019

Shepherd's crook deformity: How to set it straight. A five-step surgical guide.

J Orthop Surg (Hong Kong) 2019 Jan-Apr;27(1):2309499019834362

Department of Orthopaedics and Traumatology, Ganga Hospital, Coimbatore, Tamil Nadu, India.

Purpose:: Fibrous dysplasia (FD) of the proximal femur can result in severe deformity and disability. The results of surgical management in such situations have been reported to be poor. We present a novel, five-step surgical treatment to correct proximal femoral deformity in FD. Read More

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http://dx.doi.org/10.1177/2309499019834362DOI Listing
March 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
5 Reads

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
7 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 Apr;68(4):e54-e57

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

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 recognized to be a rare cause of neonatal cholestasis. Read More

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http://dx.doi.org/10.1097/MPG.0000000000002266DOI Listing
April 2019
3 Reads

Serum periostin levels and severity of fibrous dysplasia of bone.

Bone 2019 Apr 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
April 2019
8 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
5 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
2 Reads

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
2 Reads

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
16 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
8 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
13 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
2 Reads

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
3 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
3 Reads

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
13 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
31 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
15 Reads

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

Asian J Androl 2019 Mar-Apr;21(2):109-114

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
November 2018
9 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

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 Multisystem Disorder Caused by the Gαs Mutation p.F376V.

J Clin Endocrinol Metab 2019 Apr;104(4):1079-1089

Department for Pediatric Endocrinology and Diabetology, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Berlin, Germany.

Context: The α 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, whereas 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
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6380466PMC
April 2019
7 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 2019 Mar - Apr;61(2):177-178. 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
12 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
12 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
20 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
28 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 2019 02 11;11(1):100-103. Epub 2018 Jul 11.

University of Toronto, Hospital for Sick Children, Clinic of Endocrinology, 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.galenos.2018.2018.0110DOI Listing
February 2019
4 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
31 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
13 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
4 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
6 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
27 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
26 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
6 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

Individualized approach to the surgical management of fibrous dysplasia of the proximal femur.

Orphanet J Rare Dis 2018 05 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

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http://dx.doi.org/10.1186/s13023-018-0805-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5932767PMC
May 2018
7 Reads

Growth hormone-Insulin-like growth factor 1 axis hyperactivity on bone fibrous dysplasia in McCune-Albright Syndrome.

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

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http://dx.doi.org/10.1111/cen.13722DOI Listing
July 2018
13 Reads

Scoliosis in Fibrous Dysplasia/McCune-Albright Syndrome: Factors Associated With Curve Progression and Effects of Bisphosphonates.

J Bone Miner Res 2018 Sep 22;33(9):1641-1648. Epub 2018 May 22.

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

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http://dx.doi.org/10.1002/jbmr.3446DOI Listing
September 2018
46 Reads
1 Citation
6.832 Impact Factor

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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http://dx.doi.org/10.3389/fendo.2018.00096DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5863549PMC
March 2018
7 Reads