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Orphanet J Rare Dis 2020 May 19;15(1):117. Epub 2020 May 19.

The Botnar Research Centre, Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, University of Oxford, Oxford, OX3 7LD, UK.

Background: Osteogenesis imperfecta, fibrous dysplasia/McCune-Albright syndrome and X-linked hypophosphatemia are three rare musculoskeletal diseases characterised by bone deformities, frequent fractures and pain. Little high-quality research exists on appropriate treatment and long-term management of these conditions in adults. This is further worsened by limited research funding in rare diseases and a general mismatch between the existing research priorities and those of the patients. Read More

Horm Res Paediatr 2020 May 8:1-6. Epub 2020 May 8.

Department of Endocrinology, The Royal Children's Hospital, Parkville, Victoria, Australia.

Background And Objective: Gastrointestinal (GI) polyps with unknown malignant potential and a platelet storage pool deficiency that increases the risk of severe intraoperative and other types of bleeding have been identified in McCune-Albright syndrome (MAS). The natural course of these disorders has not been well characterized. The aim of this study was to report the follow-up of GI polyps and platelet dysfunction (PD) in a cohort of 28 patients with MAS. Read More

Eur J Nucl Med Mol Imaging 2020 Apr 16. Epub 2020 Apr 16.

Department of Nuclear Medicine, Klinikum rechts der Isar, Technical University of Munich, School of Medicine, Ismaninger Straße 22, 81675, Munich, Germany.

Horm Metab Res 2020 Apr 16. Epub 2020 Apr 16.

Department of Endocrinology, CHU de Liège, Liège Université, Liège, Belgium.

Pituitary adenomas are benign tumors with variable functional characteristics that can have a significant impact on patients. The majority arise sporadically, but an inherited genetic susceptibility is increasingly being recognized. Recent advances in genetics have widened the scope of our understanding of pituitary tumorigenesis. Read More

J Nucl Med 2020 Apr 13. Epub 2020 Apr 13.

Skeletal Disorders and Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research, United States.

McCune-Albright syndrome (MAS) is a mosaic disorder arising from gain-of-function mutations in the GNAS gene, which encodes the 3', 5'-cyclic adenosine monophosphate (cAMP) pathway-associated G-protein, Gsα. Clinical manifestations of MAS in a given individual, including fibrous dysplasia, are determined by the timing and location of the GNAS mutation during embryogenesis, the tissues involved, and the role of Gsα in the affected tissues. The Gsα mutation results in dysregulation of the cAMP signaling cascade, leading to upregulation of phosphodiesterase type 4 (PDE4), which catalyzes the hydrolysis of cAMP. Read More

J Orthop 2020 Sep-Oct;21:192-198. Epub 2020 Mar 28.

Russian Ilizarov Scientific Centre for Restorative Traumatology and Orthopaedics, 6, M. Ulyanova Street, 640014, Kurgan, Russian Federation.

The study describes preliminary experience of the use of external fixators for limb lengthening and deformity correction in combination with flexible intramedullary nailing in management of polyostotic fibrous dysplasia.

Patients And Methods: The retrospective study included 8 patients (mean age 11.6 ± 3. Read More

Ophthalmic Plast Reconstr Surg 2020 Apr 3. Epub 2020 Apr 3.

Department of Ophthalmology, Baylor College of Medicine, Houston, Texas, U.S.A.

Adv Ther 2020 May 31;37(Suppl 2):80-88. Epub 2020 Mar 31.

Sección de Nefrología Pediátrica, Hospital Universitario La Fe, Valencia, Spain.

Hypophosphataemic rickets (HR) is a group of rare disorders caused by excessive renal phosphate wasting in which the participation of fibroblast growth factor 23 (FGF23) can be prominent. These diseases pose therapeutic challenges with important consequences for growth and bone development in childhood, with higher risk of fractures and poorer bone healing, dental problems, and nephrolithiasis or nephrocalcinosis. In some cases, the diagnostic delay can be very long; laboratory findings and an exhaustive anamnesis could help distinguish between various pathologies, and FGF23 values-although currently not routinely measured-have implications for the differential diagnosis. Read More

Ann Pathol 2020 Apr 17;40(2):142-147. Epub 2020 Mar 17.

Service d'anatomie et cytologie pathologique, hospices civils de Lyon, centre hospitalier Lyon-Sud, 165, chemin grand revoyet, 69310 Pierre-Bénite, France; Inserm1052 CNRS5286, centre de recherche en cancérologie de Lyon, université Lyon 1, Lyon, France. Electronic address:

Familial thyroid cancers of follicular origin are rare and include syndromic and non-syndromic tumours. In familial adenomatous polyposis, the prevalence of papillary thyroid cancer is 2-12% and in 20-40% of cases it is a cribriform-morular papillary thyroid carcinoma. Morules and cribriform pattern are the two main typical criteria, associated with a nuclear and cytoplasmic immunopositivity for beta catenin. Read More

Kans J Med 2020 28;13:49-50. Epub 2020 Feb 28.

University of Kansas Medical Center, Department of Internal Medicine, Division of Dermatology, Kansas City, KS.

Acta Derm Venereol 2020 Mar;100(7):adv00093

Neurofibromatosis type 1 (NF1) is the most common disorder characterized by multiple café-au-lait macules. Most individuals with this autosomal dominant disorder also have other features, such as skinfold freckling, iris Lisch nodules and benign or malignant peripheral nerve sheath tumours. Legius syndrome is a less frequent autosomal dominant disorder with similar multiple café-au-lait macules and skinfold freckling. Read More

Eur J Endocrinol 2020 May;182(5):R83-R99

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

Fibrous dysplasia/McCune-Albright Syndrome (FD/MAS), arising from gain-of-function mutations in Gαs, and cutaneous skeletal hypophosphatemia syndrome (CSHS), arising from gain-of-function mutations in the Ras/MAPK pathway, are strikingly complex, mosaic diseases with overlapping phenotypes. Both disorders are defined by mosaic skin and bone involvement, and both are complicated by increased FGF23 production. These similarities have frequently led to mis-diagnoses, primarily in patients with CSHS who are often assumed to have FD/MAS. Read More

Laryngoscope 2020 Feb 14. Epub 2020 Feb 14.

Department of Pathology, Immunology, and Laboratory Medicine, University of Florida College of Medicine, Gainesville, Florida, U.S.A.

Objectives: To compare the clinical characteristics of osteoma, ossifying fibroma (OF) and fibrous dysplasia (FD) in the paranasal sinus and craniofacial regions.

Methods: Totally 282 patients (112 males, 170 females) with osteoma (161), OF (44), and FD (77) involving the paranasal sinus, skull base and orbit treated surgically from January 2012 to August 2018 were analyzed retrospectively.

Results: For osteoma, OF and FD, the onset ages were 40. Read More

Front Endocrinol (Lausanne) 2019 24;10:925. Epub 2020 Jan 24.

Division of Endocrinology and Metabolism and the Institute for Human Genetics, Department of Medicine, University of California, San Francisco, San Francisco, CA, United States.

The G G-protein coupled receptor pathway is a critical regulator of normal bone formation and function. The G pathway increases intracellular cAMP levels by ultimately acting on adenylate cyclase. McCune-Albright Syndrome (MAS) and fibrous dysplasia (FD) of the bone are two proto-typical conditions that result from increased cellular G signaling activity. Read More

Ann N Y Acad Sci 2020 Mar 10;1463(1):5-8. Epub 2020 Feb 10.

Division of Pediatric Endocrinology, Rutgers Robert Wood Johnson Medical School, New Brunswick, New Jersey.

McCune-Albright syndrome (MAS) is caused by postzygotic somatic activating mutations of GNAS and is classically characterized by the clinical triad of peripheral precocious puberty, café-au-lait pigmentation, and polyostotic fibrous dysplasia. It can also present with other hyperfunctioning endocrinopathies, including growth hormone excess, hyperprolactinemia, hypercortisolemia, hyperthyroidism, and renal phosphate wasting due to excess fibroblast growth factor 23. We review the clinical, biochemical, radiological, and genetic findings in a 7-year-old girl diagnosed with MAS at age 4 and then with autoimmune type 1 diabetes mellitus at age 7. Read More

BMC Med Genet 2020 01 21;21(1):15. Epub 2020 Jan 21.

Department of Endocrinology, ShenZhen Hospital, Southern Medical University, No. 1333, Xinhu Road, Shenzhen, 518100, Guangdong, China.

Background: Proteus syndrome (PS) is an extremely rare disease characterized by excessive chimeric growth of cells, and progressive and irregular asymmetrical hyperplasia.

Case Presentation: Herein, a PS case with atypical clinical features and syndromes was reported, to improve the understanding of the diagnosis and treatment of the disease. The case was a 3-year-and-11-month-old male child. Read More

Ann Maxillofac Surg 2019 Jul-Dec;9(2):451-454

Department of Oral and Maxillofacial Surgery, Maharaja Institute of Medical Sciences, Vizianagaram, Andhra Pradesh, India.

Fibrous dysplasia (FD) is a nonneoplastic hamartomatous developmental fibro-osseous lesion, with anomaly in bone-forming mesenchyme which manifests as a defect in osteoblastic differentiation and maturation leading to fibro-osseous tissue formation characterized by deformities in the bone, fractures, nerve compression, and bone pain. The clinical behavior and progression of FD make the management of this condition difficult. Here is a case report of a young male patient who was diagnosed as having craniomaxillofacial FD. Read More

Horm Res Paediatr 2019 Dec 19:1-10. Epub 2019 Dec 19.

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

McCune-Albright syndrome (MAS) is a rare, mosaic disorder presenting along a broad clinical spectrum. Disease arises from somatic-activating GNAS mutations, leading to constitutive Gαs activation and ligand-independent signaling of the Gαs-coupled protein receptor. The phenotype is largely determined by location and extent of tissues in which the GNAS mutation is expressed, as well as the pathophysiologic effects of Gαs activation within these tissues. Read More

Ann Biol Clin (Paris) 2019 12;77(6):619-637

ID Solutions, Grabels, France, Service d'anatomie pathologique et neuropathologie, Assistance Publique Hôpitaux de Marseille, AP-HM, Marseille, France.

This review is the second part of the workshop on digital PCR (dPCR) proposed by the working group of the French society of clinical biology. The first part of the paper discusses the advantages and limitations of dPCR for the search of different molecular abnormalities such as point mutations, copy number variants, DNA methylation, RNA analysis and a more innovative application, the single-cell dPCR. This synthesis makes it possible to propose a positioning of the dPCR compared to the other available technologies in a medical laboratory. Read More

Medicine (Baltimore) 2019 Dec;98(50):e18102

Faculté de Médecine Paris Descartes, Université Paris Descartes, Sorbonne Paris Cité.

Rationale: Intraductal papillary and mucinous neoplasms of the pancreas (IPMN) are preneoplastic lesions diagnosed with an increasing incidence. Recently, several groups have described, in up to 70% of IPMN, activating mutations of the G-protein alpha stimulatory sub-unit (Gsα subunit) gene (GNAS). GNAS-activating somatic, post-zygotic, mutations are also associated with McCune-Albright syndrome (MCAS) characterized by fibrous dysplasia, precocious puberty, and café-au-lait spots. Read More

J Pediatr Health Care 2020 Jan - Feb;34(1):71-81

Café au lait macules (CALMs) are a common, isolated dermatologic finding in the general population. But when do these irregularly shaped, jagged-edged, flat, hyperpigmented birthmarks suggest something that may warrant referral? Most pediatric providers are familiar with the association of CALMs and neurofibromatosis type 1. There are, however, other genetic conditions associated with these seemingly benign skin spots. Read More

Zh Vopr Neirokhir Im N N Burdenko 2019 ;83(5):58-66

Burdenko Neurosurgical Center, Moscow, Russia.

Introduction: McCune-Albright Syndrome is a rare genetic disease characterized by the formation of fibrous osteodysplasia foci of various localization, including the bones of skull base. Having a gross lesion of the main bone body and the simultaneous formation of the pituitary adenoma, its transnasal removal becomes very difficult.

Material And Methods: Two clinical observations are presented where at patients with the classic manifestation of McCune-Albright syndrome we were able to successfully remove somatotropinomas with endoextrasellar growth. Read More

Anticancer Res 2019 Dec;39(12):6769-6780

Institute of Pathology, Eppendorf University Hospital, University of Hamburg, Hamburg, Germany.

Background: Certain constitutive chromosomal abnormalities of the human X chromosome are relatively common in conspicuous neuropsychiatric findings. Although tumors or tumor-like lesions are occasionally reported in diseases of the X chromosome, they are numerically negligible, for example, in aneuploidy such as the triple X syndrome (TXS).

Case Report: A 16-year-old female patient with a known TXS and premutation stage of fragile X syndrome was referred by her dentist for diagnosis and treatment of unilateral cheek swelling. Read More

Ophthalmic Plast Reconstr Surg 2020 May/Jun;36(3):292-297

Department of Medicine, Division Endocrinology.

Purpose: Craniofacial fibrous dysplasia (CFD) is a subtype of fibrous dysplasia/McCune-Albright syndrome (FD/MAS) characterized by FD lesions in one or more of the skull bones. The orbit is often involved, with facial pain, facial deformity, and increased risk of compressive optic neuropathy as associated clinical manifestations possibly leading to altered illness perceptions and impairments in quality of life(QoL). The aim of this study was to evaluate illness perceptions and QoL in patients with CFD among our FD/MAS cohort. Read More

Front Endocrinol (Lausanne) 2019 19;10:803. Epub 2019 Nov 19.

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

Fibrous dysplasia (FD) is a benign bone lesion characterized by replacement of normal bone with abnormal fibrous tissue, clinically manifesting as deformities, bone pains, and pathological fractures. The standard medical management for FD includes systemic bisphosphonate therapy. The efficacy of systemic bisphosphonate is however limited with minimal functional improvement and pain relief. Read More

Endocr J 2020 Mar 4;67(3):353-359. Epub 2019 Dec 4.

Department of Endocrinology and Metabolism, Hirosaki University Graduate School of Medicine and Hospital, Hirosaki, Aomori, Japan.

McCune-Albright syndrome (MAS) is a rare disorder. MAS is classically defined by the occurrence of fibrous dysplasia, café-au-lait skin macules, and precocious puberty. In addition to precocious puberty, other hyperfunctioning endocrinopathies may occur. Read More

Expert Rev Endocrinol Metab 2019 11 2;14(6):399-418. Epub 2019 Dec 2.

Department of Medicine, The University of Melbourne, Parkville, Australia.

: This review explores insights provided by next-generation sequencing (NGS) of pituitary tumors and the clinical implications.: Although syndromic forms account for just 5% of pituitary tumours, past Sanger sequencing studies pragmatically focused on them. These studies identified mutations in and causing Multiple Endocrine Neoplasia-1 (MEN1), MEN4, Carney Complex-1, McCune Albright Syndrome and 3P association syndromes, respectively. Read More

J Neurosurg Spine 2019 Nov 29:1-4. Epub 2019 Nov 29.

Departments of1Neurosurgery and.

Intramuscular myxomas (IMMs) are rare benign tumors of mesenchymal origin that are most often located in large skeletal muscles, particularly of the thigh. They have also been reported within the paraspinal musculature and should be considered in the differential diagnosis of a paraspinal mass. These lesions can cause neurological symptoms due to mass effect. Read More

J Pediatr Adolesc Gynecol 2020 Apr 22;33(2):120-124. Epub 2019 Nov 22.

Department of Gynecology, Fujian Provincial Maternity and Children's Hospital, Fuzhou, China. Electronic address:

Study Objective: This study characterizes the etiology, clinical features and outcomes of prepubescent vaginal bleeding and summarizes our experience.

Design: The data of patients who were hospitalized with vaginal discharge or bleeding treated from January 2012 to December 2018 were retrospectively reviewed.

Setting: A provincial Grade III Level A Maternity and Children's Hospital. Read More

Orphanet J Rare Dis 2019 Nov 21;14(1):267. Epub 2019 Nov 21.

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

The original version of this article [1] unfortunately included an error to an author's name. Paul Arundel was inadvertently presented as Paul Arunde. Read More

J Stomatol Oral Maxillofac Surg 2019 Nov 2. Epub 2019 Nov 2.

Division of Maxillofacial Surgery, University of Eastern Piedmont, Novara, Italy.

Fibrous dysplasia is a non-neoplastic, sporadic, slowly progressing disease of the bone in which normal bone is replaced by abnormally overgrowing lesions. There are three different types of fibrous dysplasia: monostotic (affecting a single bone), poliostotic (affecting multiple bones) and syndromic, when it is associated with other diseases (such as McCune Albright syndrome). Fibrous dysplasia affects cranio-facial bones in 10% of the cases. Read More

Endocr Rev 2020 Apr;41(2)

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

Fibrous dysplasia/McCune-Albright syndrome (FD/MAS) is a rare disorder of striking complexity. It arises from somatic, gain-of-function mutations in GNAS, leading to mosaic Gα s activation and inappropriate production of intracellular cyclic adenosine monophosphate (cAMP). The clinical phenotype is largely determined by the location and extent of affected tissues, and the pathophysiological effects of Gα s activation within these tissues. Read More

Front Genet 2019 18;10:862. Epub 2019 Sep 18.

Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy.

McCune-Albright syndrome (MAS) is a rare congenital disorder characterized by the association of endocrine and nonendocrine anomalies caused by somatic activating variants of . The mosaic state of variants makes the clinical presentation extremely heterogeneous depending on involved tissues. Biological samples bearing a low level of mosaicism frequently lead to false-negative results with an underestimation of causative molecular alterations, and the analysis of biopsies is often needed to obtain a molecular diagnosis. Read More

Exp Suppl 2019 ;111:171-211

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

Pituitary tumours are relatively common in the general population. Most often they occur sporadically, with somatic mutations accounting for a significant minority of somatotroph and corticotroph adenomas. Pituitary tumours can also develop secondary to germline mutations as part of a complex syndrome or as familial isolated pituitary adenomas. Read More

Exp Suppl 2019 ;111:105-127

2nd Department of Internal Medicine, Faculty of Medicine, Semmelweis University, Budapest, Hungary.

In this chapter, we present an overview of multiple endocrine neoplasia syndromes including their most important clinical and molecular features. Multiple endocrine neoplasia type 1 and 2 syndromes (MEN1 and MEN2) are discussed in detail. Syndromes that are presented in other chapters are only briefly mentioned. Read More

J Radiol Case Rep 2019 Feb 28;13(2):26-33. Epub 2019 Feb 28.

Department of Orthopedic Surgery, King Abdulaziz Medical City, Riyadh, Saudi Arabia.

Fibrous Dysplasia is a benign fibro-osseous lesion occurring throughout the skeletal system with a predilection for craniofacial bones, long bones, and ribs. Fibrous dysplasia develops during bone formation and growth with a variable natural evolution. It is considered a genetic nonheritable disease resulting from missense mutations that occur postzygotically in the GNAS1 gene. Read More

Br J Oral Maxillofac Surg 2020 01 26;58(1):96-98. Epub 2019 Sep 26.

Department of Molecular Medicine, Sapienza University of Rome, Italy.

Fibrous dysplasia may show locally aggressive behaviour reflecting secondary intralesional changes, extension to soft tissue, or malignant transformation. We report the case of a patient with polyostotic fibrous dysplasia who had a giant mandibular lesion consisting of histologically typical, genotypically-confirmed, fibrous dysplasia merged with a fibrotic and hypocellular desmoplastic fibroma-like tissue in which the same Gsα-R201H mutation was detected. The occurrence of the same mutation in both the fibrous dysplasia and areas of desmoplastic fibroma suggests that the fibroma-like tissue reflects an unusual secondary tissue change within an otherwise typical fibrous dysplasia. Read More

J Orthop Case Rep 2019 ;9(3):26-29

Department of Medicine, PGIMER and Dr. Ram Manohar Lohia Hospital, New Delhi, India.

Introduction: Mazabraud's syndrome is a rare benign disorder characterized by the association of single or multiple intramuscular myxomas with monostotic or polyostotic form of fibrous dysplasia. Around 80 cases have been described till date; however, a higher incidence may be expected due to silent nature of the disease and missed diagnosis. The authors report one such case of a missed diagnosis. Read More

Glob Pediatr Health 2019 9;6:2333794X19875153. Epub 2019 Sep 9.

Baylor College of Medicine, Houston, TX, USA.

. McCune-Albright syndrome (MAS) is characterized by hyperpigmented macules, endocrinopathies, and fibrous dysplasia. Hyperthyroidism is the second most common endocrinopathy in MAS and its management is challenging, particularly among infants and toddlers. Read More

Eur J Nucl Med Mol Imaging 2020 May 13;47(5):1326-1328. Epub 2019 Sep 13.

Department of Nuclear Medicine, Tianjin Medical University General Hospital, No. 154 Anshan Road, Heping District, Tianjin, 300052, China.

JBMR Plus 2019 Aug 15;3(8):e10134. Epub 2019 Jan 15.

Department of Molecular Medicine Sapienza University Rome Italy.

Somatic gain-of-function mutations of cause a spectrum of clinical phenotypes, ranging from McCune-Albright syndrome (MAS) to isolated disease of bone, endocrine glands, and more rarely, other organs. In MAS, a syndrome classically characterized by polyostotic fibrous dysplasia (FD), café-au-lait (CAL) skin spots, and precocious puberty, the heterogenity of organ involvement, age of onset, and clinical severity of the disease are thought to reflect the variable size and the random distribution of the mutated cell clone arising from the postzygotic mutation. We report a case of neonatal MAS with hypercortisolism and cholestatic hepatobiliary dysfunction in which bone changes indirectly emanating from the disease genotype, and distinct from FD, led to a fatal outcome. Read More

BMC Oral Health 2019 08 8;19(1):180. Epub 2019 Aug 8.

Department of oral and maxillofacial surgery, Muhimbili University of Health and Allied Sciences, P.O. Box 65001, Dar es Salaam, Tanzania.

Background: McCune-Albright syndrome (MAS) is a rare multisystem disorder that classically was defined by the triad of polyostotic fibrous dysplasia of bone, café-au-lait skin pigmentation, and precocious puberty. It is a condition that has a gradual onset, slow growth rate and remain painless throughout. The clinical phenotype of MAS is highly variable and no definite treatment is available. Read More

J Clin Endocrinol Metab 2019 12;104(12):6069-6078

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

Context: Fibrous dysplasia/McCune-Albright syndrome (FD/MAS) is a rare bone disorder commonly treated with bisphosphonates, but clinical and biochemical responses may be incomplete.

Objective: To evaluate the efficacy and tolerability of the receptor activator of nuclear factor-κB ligand inhibitor denosumab in the treatment of patients with FD/MAS refractory to bisphosphonate therapy.

Design: Case series. Read More

Horm Res Paediatr 2019 30;92(3):196-202. Epub 2019 Jul 30.

Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.

Infantile Cushing's syndrome is potentially found as part of McCune-Albright syndrome (MAS) which is caused by postzygotic somatic mutations of the GNAS gene. MAS is typically characterized by a triad of polyostotic fibrous dysplasia, café-au-lait skin pigmentation, and precocious puberty or other endocrine hyperfunction. Here, we describe a 2-month-old female infant with features of Cushing's syndrome without café au lait spots, polyostotic fibrous dysplasia, and clinical evidence of other endocrine hyperfunction. Read More

BMJ Case Rep 2019 Jul 15;12(7). Epub 2019 Jul 15.

Department of Endocrinology, Christian Medical College, Vellore, Tamil Nadu, India.

McCune Albright syndromeis a rare disorder that presents with multiple endocrine abnormalities. We report the case of a 24-year-old woman who presented with right lower limb pain, with no preceding trauma or fracture. On examination she was noted to have coarsened facial features, acral enlargement, bitemporal hemianopia, galactorrhoea and multiple café-au-lait macules. Read More

Semin Diagn Pathol 2019 Jul 5;36(4):260-268. Epub 2019 Jul 5.

Department of Laboratory Medicine and Pathology, Mayo Clinic, 200 1st St SW, Rochester, MN 55905, USA. Electronic address:

Perhaps the rarest cause of osteomalacia is that caused by a neoplasm, so-called "tumor-induced osteomalacia" (TIO). Although very rare cases of TIO have been associated with carcinomas and syndromes such as neurofibromatosis type-1 and McCune-Albright syndrome, the overwhelming majority of TIO is caused by tumors of mesenchymal origin. Although it was historically felt that almost any mesenchymal tumor type could occasionally result in TIO, it has become increasingly clear over the past several decades that almost all cases of mesenchymal tumor-associated TIO are caused by a single entity, known as "phosphaturic mesenchymal tumor" (PMT). Read More

J Bone Miner Res 2019 12 21;34(12):2171-2182. Epub 2019 Aug 21.

Department of Molecular Medicine, Sapienza University, Rome, Italy.

Fibrous dysplasia of bone/McCune-Albright syndrome (Polyostotic FD/MAS; OMIM#174800) is a crippling skeletal disease caused by gain-of-function mutations of G α. Enhanced bone resorption is a recurrent histological feature of FD and a major cause of fragility of affected bones. Previous work suggests that increased bone resorption in FD is driven by RANKL and some studies have shown that the anti-RANKL monoclonal antibody, denosumab, reduces bone turnover and bone pain in FD patients. Read More

Pak J Med Sci 2019 ;35(3):873-876

Besime Ahu Kaynak, Assistant Professor, School of Health Sciences, Toros University, Mersin, Turkey.

Fibrous Dysplasia (FD) is a developmental disorder of bone that can affect one bone (monostotic type) or multiple bones (polyostotic type). The disease can be associated with hyperpigmentation and endocrinological disorders. In general, FD is found in teenagers, in the second decade of life. Read More

Orphanet J Rare Dis 2019 06 13;14(1):139. Epub 2019 Jun 13.

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

Fibrous Dysplasia / McCune Albright syndrome (FD/MAS) represents a wide spectrum of diseases due to somatic gain-of-function mutations of the GNAS gene. The mutation leads to overactivity in the target tissues and to a wide phenotype of clinical features that vary in severity and age of onset. The rarity of the disease and its variable presentation to multiple specialities often leads to misdiagnosis and inappropriate variability in investigations and treatments. Read More