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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

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

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

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

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

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

J Bone Miner Res 2018 Nov 29. 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

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

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

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

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

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

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

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

J Pediatr 2018 Nov 13. 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

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

National Institutes of Health, Bethesda, MD

Endocr Pract 2018 Nov 1. Epub 2018 Nov 1.

From: Department of Endocrinology, Key Laboratory of Endocrinology of the Ministry of Health, Peking Union Medical Collage Hospital, Chinese Academy of Medical Science; Shuaifuyuan No.1, Dongcheng District, Beijing 100730, China.

Objective: Fibrous dysplasia (FD) is a rare disorder characterized by pain, deformity, and pathological 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

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

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

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

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

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

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

Radiologia 2018 Sep 17. Epub 2018 Sep 17.

Hospital Universitario Virgen de las Nieves, Granada, España.

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

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

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

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

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

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

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

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

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

Korean J Fam Med 2018 Jul 6. 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

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

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

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

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

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

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

Turk Patoloji Derg 2018 ;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

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

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

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

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

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

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

J Bone Miner Res 2018 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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Bone 2018 05 20;110:230-237. Epub 2018 Feb 20.

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

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

Clin Perinatol 2018 03 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