657 results match your criteria Infantile Cortical Hyperostosis


Intra-medullary osteosclerosis of the tibia in children.

Orthop Traumatol Surg Res 2019 Apr 8. Epub 2019 Apr 8.

Service de chirurgie orthopédique infantile, centre hospitalier universitaire de Toulouse, 31000 Toulouse, France.

Background: Intra-medullary osteosclerosis of the tibia is a rare condition characterised by chronic pain due to diaphyseal hyperostosis with no detectable triggering factor. The main differential diagnoses are stress fracture and osteoid osteoma. Of the few cases reported to date, most were in adults. Read More

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http://dx.doi.org/10.1016/j.otsr.2018.10.026DOI Listing
April 2019
1 Read

Hyperphosphataemic tumoral calcinosis.

Lancet 2019 01;393(10167):168

Department of Orthopaedics, All India Institute of Medical Sciences, Bhopal, India.

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http://dx.doi.org/10.1016/S0140-6736(18)33045-9DOI Listing
January 2019
3 Reads
45.217 Impact Factor

Infantile cortical hyperostosis manifesting as congenital unilateral proptosis.

Can J Ophthalmol 2018 Dec 7;53(6):e249-e252. Epub 2018 Mar 7.

Bristol Eye Hospital, Bristol, United Kingdom.

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http://dx.doi.org/10.1016/j.jcjo.2018.01.002DOI Listing
December 2018
11 Reads

Worth syndrome "mandibular osteosclerosis" as an incidental finding: a report of 2 cases.

Dentomaxillofac Radiol 2018 12 20;47(8):20180171. Epub 2018 Jul 20.

1 College of Dental Medicine, University of New England , Portland, ME  , USA.

This report presents two cases of Worth syndrome involving the mandible which were identified as an incidental finding on radiologic evaluation. Both patients were females who presented with enlarged mandibles. Radiologic evaluation revealed multiple bilateral mandibular enostoses, widened and thickened inferior cortical border of the mandible, with no other major clinical finding on examination. Read More

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https://www.birpublications.org/doi/10.1259/dmfr.20180171
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http://dx.doi.org/10.1259/dmfr.20180171DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6326389PMC
December 2018
4 Reads

Unusual findings on infantile cortical hyperostosis: A case report.

Spec Care Dentist 2018 Sep 29;38(5):324-327. Epub 2018 Jun 29.

Department of Stomatology, School of Dentistry at Bauru, University of São Paulo, Bauru, São Paulo, Brazil.

Background: Caffey's disease is a rare syndrome, usually self-limiting, affecting newborn and young infants. On radiological exams, the cortical hyperostosis is always present, associated or not to soft tissue swelling. Other radiographic presentations are described as lytic areas. Read More

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http://dx.doi.org/10.1111/scd.12305DOI Listing
September 2018
24 Reads

Hyperphosphatemic familial tumoral calcinosis secondary to fibroblast growth factor 23 (FGF23) mutation: a report of two affected families and review of the literature.

Osteoporos Int 2018 Sep 20;29(9):1987-2009. Epub 2018 Jun 20.

Calcium Metabolism and Osteoporosis Program, WHO Collaborating Center for Metabolic Bone Disorders, American University of Beirut Medical Center, Beirut, Lebanon.

Hyperphosphatemic familial tumoral calcinosis (HFTC), secondary to fibroblast growth factor 23 (FGF23) gene mutation, is a rare genetic disorder characterized by recurrent calcified masses. We describe young Lebanese cousins presenting with HFTC, based on a retrospective chart review and a prospective case study. In addition, we present a comprehensive review on the topic, based on a literature search conducted in PubMed and Google Scholar, in 2014 and updated in December 2017. Read More

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http://dx.doi.org/10.1007/s00198-018-4574-xDOI Listing
September 2018
6 Reads

Lenz majewskihyperostotic dwarfism: A Pakistani patient with atypical features.

J Pak Med Assoc 2018 May;68(5):793-796

Department of Pediatrics, Unit II, Civil Hospital.

Lenz-Majewski Hyperostotic Dwarfism (LMHD) is an extremely rare congenital, sclerosing bone dysplasia that causes cranio-tubular hyperostosis, ectodermal dysplasia (cutis laxa and enamel hypoplasia), osseous dysgenesis of hands and feet with diaphyseal cortical thickening of tubular bones and intellectual disability. Only a few cases of this syndrome have been reported in the literature so far. We report another case of LMHD with cranio-tubular hyperostosis, cutis laxa, wide open anterior and posterior fontannels, hypertelorism and thickening of diaphysis of tubular bones in a six months old Pakistani female patient. Read More

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May 2018
8 Reads
0.403 Impact Factor

Case Report of Worth Syndrome and Chiari I Malformation: Unusual Association and Surgical Treatment.

World Neurosurg 2018 Jul 27;115:225-228. Epub 2018 Apr 27.

Department of Neurosurgery, José María Ramos Mejía General Hospital, Buenos Aires, Argentina.

Background: Worth syndrome or autosomal dominant endosteal hyperostosis (ADEH) is an extremely rare genetic disease involving increased bone density. To the author's knowledge, this is the second case report of a family with neurologic involvement associated with this condition along with its surgical treatment. The most effective treatment for clinically significant neurologic symptoms in this scenario is currently unknown, and there is sparse experience on surgical treatment for this condition reported in the literature. Read More

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http://dx.doi.org/10.1016/j.wneu.2018.04.144DOI Listing
July 2018
5 Reads

Added value of newer optical coherence tomography technologies in hyperphosphatemic familial tumoural calcinosis.

Can J Ophthalmol 2018 02 7;53(1):e8-e10. Epub 2017 Aug 7.

Department of Ophthalmology, Hospital Universitario Ramón y Cajal, Madrid, Spain.

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http://dx.doi.org/10.1016/j.jcjo.2017.06.016DOI Listing
February 2018
2 Reads

Inherited Arterial Calcification Syndromes: Etiologies and Treatment Concepts.

Curr Osteoporos Rep 2017 08;15(4):255-270

Department of General Pediatrics, Münster University Children's Hospital, Albert-Schweitzer-Campus 1, D-48149, Münster, Germany.

Purpose Of Review: We give an update on the etiology and potential treatment options of rare inherited monogenic disorders associated with arterial calcification and calcific cardiac valve disease.

Recent Findings: Genetic studies of rare inherited syndromes have identified key regulators of ectopic calcification. Based on the pathogenic principles causing the diseases, these can be classified into three groups: (1) disorders of an increased extracellular inorganic phosphate/inorganic pyrophosphate ratio (generalized arterial calcification of infancy, pseudoxanthoma elasticum, arterial calcification and distal joint calcification, progeria, idiopathic basal ganglia calcification, and hyperphosphatemic familial tumoral calcinosis; (2) interferonopathies (Singleton-Merten syndrome); and (3) others, including Keutel syndrome and Gaucher disease type IIIC. Read More

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http://dx.doi.org/10.1007/s11914-017-0370-3DOI Listing
August 2017
3 Reads

Caffey's Disease Sans Mandibular and Clavicular Involvement: A Rare Case Report.

Cureus 2017 Apr 16;9(4):e1170. Epub 2017 Apr 16.

Radiodiagnosis, Era's Lucknow Medical College and Hospital.

Caffey's disease, also known as Infantile Cortical Hyperostosis, is a rare, self-limited, benign, inflammatory gene-related disorder of infants that causes bone changes, soft tissue swelling, and irritability. The mandible (75%), clavicles, and ulnae are the bones most frequently involved, others being long bones, lateral ribs, ilia with skull being the rarest. However, we report a case of a 5-month-old male diagnosed with Infantile cortical hyperostosis but with absent mandibular and clavicular involvement, thus depicting the unusual presentation of this disease. Read More

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http://dx.doi.org/10.7759/cureus.1170DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5435127PMC
April 2017
7 Reads

Infantile Cortical Hyperostosis of Scapula Presenting as Pseudoparalysis in an Infant.

Indian Pediatr 2017 02;54(2):157-158

Department of Pediatrics, CHILDS Trust Medical Research Foundation, Kanchi Kamakoti CHILDS Trust Hospital, Chennai, India

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February 2017
7 Reads

Infantile Cortical Hyperostosis: Report of a Case with Observations on Clinical Manifestations, Radiology, and Pathology with a Late Follow-Up of Eight Years.

Case Rep Pediatr 2016 6;2016:2073854. Epub 2016 Dec 6.

Department of Radiology, National Institute of Orthopedic and Traumatology (INTO), Rio de Janeiro, RJ, Brazil.

. The purpose of our study was to investigate clinical manifestations, roentgen images, histopathological studies, and evolution of the disease in patient displaying infantile cortical hyperostosis. . Read More

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http://dx.doi.org/10.1155/2016/2073854DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5168472PMC
December 2016
2 Reads

[Infantile cortical hyperostosis: Case report].

Rev Chil Pediatr 2016 Sep - Oct;87(5):401-405. Epub 2016 Mar 26.

Servicio Urgencias Pediátricas, Instituto Nacional de Pediatría, Ciudad de México, México.

Infantile Cortical Hyperostosis, or Caffey-Silverman disease, is a rare condition characterised by generalised bone proliferation mediated by an acute inflammatory process. Diagnosis can be made through clinical evaluation and X-ray studies. The course is generally self-limiting and prognosis is excellent. Read More

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http://dx.doi.org/10.1016/j.rchipe.2015.12.005DOI Listing
April 2017
2 Reads

FGF23-S129F mutant bypasses ER/Golgi to the circulation of hyperphosphatemic familial tumoral calcinosis patients.

Bone 2016 12 24;93:187-195. Epub 2015 Nov 24.

Life Sciences Department, Medical Biotechnology, Arabian Gulf University, Manama, Bahrain.

FGF23 is essential for the homeostasis of phosphate, and vitamin D. Loss-of-function mutations in this hormone cause hyperphosphatemic familial tumoral calcinosis (HFTC). Earlier reports suggested that intact FGF23 from loss of function mutants such as FGF23/S129F (iFGF23/S129F) is retained intracellularly while the carboxy-terminal fragment is secreted. Read More

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http://dx.doi.org/10.1016/j.bone.2015.11.015DOI Listing
December 2016
77 Reads

Phenotypic and Genotypic Characterization and Treatment of a Cohort With Familial Tumoral Calcinosis/Hyperostosis-Hyperphosphatemia Syndrome.

J Bone Miner Res 2016 10 20;31(10):1845-1854. Epub 2016 Sep 20.

Skeletal Clinical Studies Unit, Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA.

Familial tumoral calcinosis (FTC)/hyperostosis-hyperphosphatemia syndrome (HHS) is a rare disorder caused by mutations in the genes encoding fibroblast growth factor-23 (FGF23), N-acetylgalactosaminyltransferase 3 (GALNT3), or KLOTHO. The result is functional deficiency of, or resistance to, intact FGF23 (iFGF23), causing hyperphosphatemia, increased renal tubular reabsorption of phosphorus (TRP), elevated or inappropriately normal 1,25-dihydroxyvitamin D (1,25D), ectopic calcifications, and/or diaphyseal hyperostosis. Eight subjects with FTC/HHS were studied and treated. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5071128PMC
http://dx.doi.org/10.1002/jbmr.2870DOI Listing
October 2016
66 Reads

Caffey's Disease: Two Cases Presenting with Unexplained Fever.

Indian J Pediatr 2016 Nov 1;83(12-13):1499-1500. Epub 2016 Jul 1.

Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.

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http://dx.doi.org/10.1007/s12098-016-2185-0DOI Listing
November 2016
93 Reads

Development and Validation of a Simple Diagnostic Method to Detect Gain and Loss of Function Defects in Fibroblast Growth Factor-23.

Horm Res Paediatr 2016 30;86(1):45-52. Epub 2016 Jun 30.

Department of Life Sciences, Medical Biotechnology, Arabian Gulf University, Manama, Bahrain.

Background: Fibroblast growth factor-23 (FGF23) is a bone-derived hormone that regulates the homeostasis of phosphate and vitamin D. Three substitutions in the hormone are reported to cause autosomal dominant hypophosphatemic rickets and seven substitutions to cause autosomal recessive hyperphosphatemic familial tumoral calcinosis (HFTC). Both disorders are rare in the general population and occur most often in the Eastern Mediterranean region and Africa. Read More

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http://dx.doi.org/10.1159/000447113DOI Listing
April 2017
4 Reads

Hyperostosis in siblings.

S Afr Med J 2016 May 25;106(6 Suppl 1):S98-9. Epub 2016 May 25.

Department of Endocrinology and Metabolic Diseases, Charité-Universitätsmedizin, Berlin; and Division of Medical Genetics, Children's Hospital, University of Freiburg, Germany.

Infantile cortical hyperostosis - Caffey-Silverman disease - is a familial disorder manifesting in the late fetal period or infancy with excessive periosteal bone formation. Signs and symptoms regress spontaneously within months and result in expanded, deformed bones. The paucity of clinical symptoms may lead to delayed investigation and confusion of the remaining bone changes with those in other conditions. Read More

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http://dx.doi.org/10.7196/SAMJ.2016.v106i6.11007DOI Listing
May 2016
4 Reads

Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes.

PLoS Genet 2016 05 17;12(5):e1006037. Epub 2016 May 17.

Department of Veterinary Biosciences, University of Helsinki, Helsinki, Finland.

One to two percent of all children are born with a developmental disorder requiring pediatric hospital admissions. For many such syndromes, the molecular pathogenesis remains poorly characterized. Parallel developmental disorders in other species could provide complementary models for human rare diseases by uncovering new candidate genes, improving the understanding of the molecular mechanisms and opening possibilities for therapeutic trials. Read More

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http://dx.doi.org/10.1371/journal.pgen.1006037DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4871343PMC
May 2016
16 Reads

Topical Sodium Thiosulfate: A Treatment for Calcifications in Hyperphosphatemic Familial Tumoral Calcinosis?

J Clin Endocrinol Metab 2016 07 10;101(7):2810-5. Epub 2016 May 10.

Pharmacie (J.J., V.R.), Inserm, Université de Limoges, Centre Hospitalo Universitaire de Limoges, Unité Mixte de Recherche Scientifique 1094, Institut d'Epidémiologie Neurologique et de Neurologie tropicale, Centre National de la Recherche Scinetifique Fédération de Recherche 3503 Génomique, Environnement, Immunité, Santé et Thérapie Pédiatrie (C.B., A.Lie., H.M., V.G.), Comité de l'HME pour la Recherche Clinique Centre Hospitalier Universitaire; and Centre d'Investigation Clinique (E.P.), Centre Hospitalier Universitaire, 87000 Limoges, France; Assistance Publique-Hôpitaux de Paris (M.C.), Hôpital Européen Georges Pompidou, Département de Physiologie; Université Paris Descartes, Faculté de Médecine; and Institut Necker Enfants-Malades, Inserm Unité 1151, Centre National de la Recherche Scientifique Unité Mixte de Recherche 8253, 75000 Paris, France; Pédiatrie (T.-A.T.), Centre Hospitalier Universitaire de Nîmes; Inserm Unité 1183, Faculté de Médecine Montpellier-Nîmes, 30000 Nîmes France; Assistance Publique-Hôpitaux de Paris (A.Lin.), Centre de Référence des Maladies Rare du Métabolisme Phosphocalcique et Plateforme d'Expertise Paris Sud Maladies Rares; and Inserm Unité 1169, Le Kremlin Bicêtre 94270, France; Génétique Médicale (K.B.), Hôpital Raymond Poincaré, 92380 Garches, France; and Centre National de la Recherche Scinetifique Unité Mixte de Recherche 7276 (V.G.), Université de Limoges, 87000 Limoges, France.

Context: Hyperphosphatemic familial tumoral calcinosis (HFTC) and hyperphosphatemia hyperostosis syndrome (HHS) are rare diseases characterized by hyperphosphatemia and ectopic calcifications or recurrent episodes of diaphysitis. In the setting of metabolic or inflammatory diseases, recent data suggest that systemic administration of sodium thiosulfate (STS) could be effective in the treatment of ectopic calcifications but may also be poorly tolerated (digestive symptoms, metabolic acidosis). Our group developed a topical formulation of STS to treat ectopic calcifications locally, therefore limiting patient exposure to the drug and its adverse effects. Read More

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http://dx.doi.org/10.1210/jc.2016-1087DOI Listing
July 2016
13 Reads

Prenatal Presentation of Lethal Variant Infantile Cortical Hyperostosis (Caffey Disease).

Ultrasound Q 2016 Dec;32(4):338-341

*Department of Medical Imaging, University of Toronto; and †Abdominal Imaging Division, Obstetrical Ultrasound Centre, Sunnybrook Health Science Centre, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1097/RUQ.0000000000000234DOI Listing
December 2016
1 Read

Facial Swelling in an Infant.

JAMA Otolaryngol Head Neck Surg 2016 Mar;142(3):293-4

University of Texas Medical School at Houston, Department of Pediatrics, Houston.

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http://dx.doi.org/10.1001/jamaoto.2015.3197DOI Listing
March 2016
1 Read

An Unusual Cause of Pseudopapillary Oedema: Hyperphosphatemic Hyperostosis Syndrome.

Ophthalmic Genet 2016 06 12;37(2):238-41. Epub 2016 Jan 12.

c Department of Paediatry , Gulhane Military Medical Academy , Ankara , Turkey.

For the first time, we report hyperphosphatemic hyperostosis syndrome as a cause for pseudopapillary oedema in a pediatric case. Clinical findings are presented and discussed with tomographic evaluation (optical coherence tomography and Heidelberg retinal tomography) of optic discs, visual-evoked potentials, and visual fields. Read More

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http://dx.doi.org/10.3109/13816810.2015.1033559DOI Listing
June 2016
2 Reads

[Kenny-Caffey syndrome and its related syndromes].

Nihon Rinsho 2015 Nov;73(11):1959-64

Kenny-Caffey syndrome (KCS) is a very rare dysmorphologic syndrome characterized by proportionate short stature, cortical thickening and medullary stenosis of tubular bones, delayed closure of anterior fontanelle, eye abnormalities, and hypoparathyroidism. Two types of KCS were known: the autosomal recessive form (KCS type 1), which is caused by mutations of the TBCE gene, and the autosomal dominant form (KCS type 2), which is caused by mutations of the FAM111A gene. TBCE mutation also causes hypoparathyroidism-retardation-dysmorphism syndrome, and FAM111A mutation also causes gracile bone dysplasia. Read More

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November 2015
9 Reads

Root anomalies and dentin dysplasia in autosomal recessive hyperphosphatemic familial tumoral calcinosis (HFTC).

Oral Surg Oral Med Oral Pathol Oral Radiol 2015 Dec 28;120(6):e235-9. Epub 2015 May 28.

Department of Biologic and Materials Sciences, University of Michigan School of Dentistry, Ann Arbor, Michigan, USA.

Hyperphosphatemic familial tumoral calcinosis (HFTC, OMIM #211900) is an autosomal recessive metabolic disorder characterized by hyperphosphatemia, tooth root defects, and the progressive deposition of calcium phosphate crystals in periarticular spaces, soft tissues, and sometimes bone.(1) In this HFTC case report, we document the dental phenotype associated with a homozygous missense mutation (g.29077 C>T; c. Read More

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http://dx.doi.org/10.1016/j.oooo.2015.05.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4640955PMC
December 2015
10 Reads

[It is not always gout! : A rare diagnosis of troublesome tumors on fingers and toes].

Chirurg 2016 Jun;87(6):529-31

Handchirurgie, Spitäler Grabs und Altstätten, Spitalstrasse 44, 9472, Grabs, Schweiz.

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http://dx.doi.org/10.1007/s00104-015-0079-8DOI Listing

The Case | Ectopic calcifications in a child.

Kidney Int 2015 May;87(5):1079-81

Department of Nephrology, Seth Gordhandas Sunderdas Medical College and King Edward Memorial Hospital, Mumbai, India.

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http://dx.doi.org/10.1038/ki.2014.76DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4431583PMC
May 2015
10 Reads
8.563 Impact Factor

[Vascular Calcification - Pathological Mechanism and Clinical Application - . Regulation of mineral metabolism and mineralization by FGF23].

Authors:
Seiji Fukumoto

Clin Calcium 2015 May;25(5):687-91

Fujii Memorial Institute of Medical Sciences, The University of Tokushima, Japan.

Fibroblast growth factor 23 (FGF23) decreases serum phosphate by inhibiting proximal tubular phosphate reabsorption and intestinal phosphate absorption through the reduction of serum 1,25-dihydroxyvitamin D [1,25 (OH) (2)D] levels. Excessive actions of FGF23 cause hypophosphatemic diseases with impaired mineralization of bone. On the other hand, impaired actions of FGF23 result in hyperphosphatemic familial tumoral calcinosis characterized by hyperphosphatemia and high 1,25 (OH) (2)D levels. Read More

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http://dx.doi.org/CliCa1505687691DOI Listing
May 2015
3 Reads

Human Preosteoblastic Cell Culture from a Patient with Severe Tumoral Calcinosis-Hyperphosphatemia Due to a New GALNT3 Gene Mutation: Study of In Vitro Mineralization.

Calcif Tissue Int 2015 May 23;96(5):438-52. Epub 2015 Apr 23.

Metabolic Bone Diseases Unit AOUC-Careggi, Department of Orthopedics, University of Florence, Largo Palagi, 1, 50134, Florence, Italy.

Human disorders of phosphate (Pi) handling and skeletal mineralization represent a group of rare bone diseases. One of these disease is tumoral calcinosis (TC). In this study, we present the case of a patient with TC with a new GALNT3 gene mutation. Read More

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http://dx.doi.org/10.1007/s00223-015-9974-8DOI Listing
May 2015
8 Reads

Hyperphosphatemic familial tumoral calcinosis: genetic models of deficient FGF23 action.

Curr Osteoporos Rep 2015 Apr;13(2):78-87

Department of Medicine, Division of Endocrinology, Indiana University School of Medicine, 1120 W. Michigan Street, Gatch Clinical Building Room 459, Indianapolis, IN, 46202, USA,

Hyperphosphatemic familial tumoral calcinosis (hFTC) is a rare disorder of phosphate metabolism defined by hyperphosphatemia and ectopic calcifications in various locations. To date, recessive mutations have been described in three genes involving phosphate metabolism: FGF23, GALNT3, and α-Klotho, all of which result in the phenotypic presentation of hFTC. These mutations result in either inadequate intact fibroblast growth factor-23 (FGF23) secretion (FGF23 or GALNT3) or resistance to FGF23 activity at the fibroblast growth factor receptor/α-Klotho complex (α-Klotho). Read More

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http://link.springer.com/content/pdf/10.1007%2Fs11914-015-02
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http://link.springer.com/10.1007/s11914-015-0254-3
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http://dx.doi.org/10.1007/s11914-015-0254-3DOI Listing
April 2015
3 Reads

Prenatal Caffey disease (prenatal cortical hyperostosis): severe forms with favorable outcome.

Prenat Diagn 2015 Apr 3;35(4):409-11. Epub 2015 Mar 3.

Service obstétrique, Hôpital Femme Mère Enfants, Hospices Civils de Lyon, Lyon, France.

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http://dx.doi.org/10.1002/pd.4567DOI Listing
April 2015
9 Reads

Infantile cortical hyperostosis - a report of Saudi family.

Sudan J Paediatr 2015 ;15(1):61-4

Department of Pediatrics , Maternity and Children Hospital, ALHasa , Saudi Arabia.

A 2-weeks-old Saudi neonate was apparently well till the 10th day of life when a swelling of the right groin was noted accompanied by irritability and fever, without history of trauma. On examination: the girl was irritable and febrile, the mass was firm, ill defined, fixed and tender. The state of the underlying skin was normal. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4949861PMC
August 2016
1 Read

Hyperphosphatemic familial tumoral calcinosis: odontostomatologic management and pathological features.

Am J Case Rep 2014 Dec 24;15:569-75. Epub 2014 Dec 24.

Department of Emergency and Organ Transplantation, Pathological Anatomy, Aldo Moro University, Barii, Italy.

Background: Hyperphosphatemic familial tumoral calcinosis (HFTC) is to a rare autosomal recessive disorder characterized by cutaneous and sub-cutaneous calcified masses, usually adjacent to large joints. The aim of the current study was to report on the clinico-pathological features of a patient with HFCT, with emphasis on alterations in the jawbones and teeth and the subsequent therapeutic interventions.

Case Report: A 13-year-old male patient with HFTC diagnosis came to our attention for dental anomalies and maxillary and mandibular hypoplasia. Read More

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http://dx.doi.org/10.12659/AJCR.892113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4278695PMC
December 2014
1 Read

Infantile cortical hyperostosis: two cases with varied presentations.

J Clin Diagn Res 2014 Oct 20;8(10):PJ01-2. Epub 2014 Oct 20.

Assistant Professor, Department of Paediatrics, All India Institute of Medical Sciences , Bhubaneswar, India .

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http://dx.doi.org/10.7860/JCDR/2014/9077.4945DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4253242PMC
October 2014

Severe vascular calcification and tumoral calcinosis in a family with hyperphosphatemia: a fibroblast growth factor 23 mutation identified by exome sequencing.

Nephrol Dial Transplant 2014 Dec 5;29(12):2235-43. Epub 2014 Nov 5.

Department of Epidemiology and Biostatistics, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA.

Background: Tumoral calcinosis is an autosomal recessive disorder characterized by ectopic calcification and hyperphosphatemia.

Methods: We describe a family with tumoral calcinosis requiring amputations. The predominant metabolic anomaly identified in three affected family members was hyperphosphatemia. Read More

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http://ndt.oxfordjournals.org/content/29/12/2235.full.pdf
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http://ndt.oxfordjournals.org/cgi/doi/10.1093/ndt/gfu324
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http://dx.doi.org/10.1093/ndt/gfu324DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4240183PMC
December 2014
19 Reads

GALNT3 gene mutation-associated chronic recurrent multifocal osteomyelitis and familial hyperphosphatemic familial tumoral calcinosis.

Scand J Rheumatol 2015 29;44(2):170-2. Epub 2014 Oct 29.

University of Ottawa , Ottawa , Canada.

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http://dx.doi.org/10.3109/03009742.2014.958100DOI Listing
May 2015
3 Reads
1 Citation
2.530 Impact Factor

Long-term clinical outcome and phenotypic variability in hyperphosphatemic familial tumoral calcinosis and hyperphosphatemic hyperostosis syndrome caused by a novel GALNT3 mutation; case report and review of the literature.

BMC Genet 2014 Sep 24;15:98. Epub 2014 Sep 24.

Background: Hyperphosphatemic Familial Tumoral Calcinosis (HFTC) and Hyperphosphatemic Hyperostosis Syndrome (HHS) are associated with autosomal recessive mutations in three different genes, FGF23, GALNT3 and KL, leading to reduced levels of fibroblast growth factor 23 (FGF23) and subsequent clinical effects.

Results: We describe a consanguineous family with two affected siblings with HFTC and HHS caused by a novel homozygous G-to T substitution in exon 3 of GALNT3 (c.767 G > T; p. Read More

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http://dx.doi.org/10.1186/s12863-014-0098-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4181413PMC
September 2014
10 Reads

[FGF23 and skeletal metabolism].

Clin Calcium 2014 Jun;24(6):879-84

Department of Bone and Mineral Research, Osaka Medical Center and Research Institute for Maternal and Child Health, Japan.

FGF23 is an endocrine FGF produced by osteocytes, which increases excretion of phosphate and suppresses the production of 1,25 (OH) 2D. Excessive action of FGF23 causes various forms of hypophosphatemic rickets/osteomalacia, while the loss of function of FGF23 results in the condition called familial hyperphosphatemic tumoral calcinosis. 1,25 (OH) 2D stimulates the production of FGF23, and the interaction between FGF23 and 1,25 (OH) 2D plays a central role in mineral homeostasis. Read More

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http://dx.doi.org/CliCa1406879884DOI Listing
June 2014
5 Reads

Hyperostotic bone disease in a wombat (Vombatus ursinus).

Res Vet Sci 2014 Aug 9;97(1):88-95. Epub 2014 May 9.

Department of Anatomy and Anthropology, Sackler Faculty of Medicine, Tel-Aviv University, Tel Aviv 69978, Israel. Electronic address:

Little is known about wombat diseases in general, and about their congenital diseases in particular. In the current study, the skeleton of a common wombat (Vombatus ursinus) that exhibited generalized hyperostosis is analyzed, and possible diagnoses are reviewed. Macromorphological analyses revealed that the diaphyses of the long bones manifested an increased diameter with extensive diaphyseal new-bone formation (periosteal and endosteal). Read More

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http://dx.doi.org/10.1016/j.rvsc.2014.05.004DOI Listing
August 2014
7 Reads

[Caffey disease. A case report].

Acta Ortop Mex 2013 Mar-Apr;27(2):114-8

Infantile cortical hyperostosis or Caffey-Silverman syndrome is a disorder of unknown cause that affects the skeleton and some of the contiguous fascias and muscles. It occurs under all circumstances, in cities, rural communities, in all types of climates, seasons, races, social strata, and its incidence is the same among males and females. We report herein a very rare disease, little known in world literature, in order to disseminate within the orthopedic setting the musculoskeletal alterations we found in Caffey-Silverman disease. Read More

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May 2014
2 Reads

Rare bone diseases and their dental, oral, and craniofacial manifestations.

J Dent Res 2014 Jul 3;93(7 Suppl):7S-19S. Epub 2014 Apr 3.

Skeletal Clinical Studies Unit, Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA.

Hereditary diseases affecting the skeleton are heterogeneous in etiology and severity. Though many of these conditions are individually rare, the total number of people affected is great. These disorders often include dental-oral-craniofacial (DOC) manifestations, but the combination of the rarity and lack of in-depth reporting often limit our understanding and ability to diagnose and treat affected individuals. Read More

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http://dx.doi.org/10.1177/0022034514529150DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4107543PMC
July 2014
1 Read

Hyperphosphatemic familial tumoral calcinosis: response to acetazolamide and postulated mechanisms.

Am J Med Genet A 2014 Jun 25;164A(6):1545-9. Epub 2014 Mar 25.

Department of Pediatrics, Feinberg School of Medicine, Northwestern University, and Kidney Diseases, The Ann and Robert H Lurie Children's Hospital of Chicago, Chicago, Illinois.

Hyperphosphatemic familial tumoral calcinosis (HFTC) is characterized by enhanced renal phosphate absorption, hyperphosphatemia, and tumor-like extraosseous calcifications due to inactivating mutations in FGF23 or associated proteins. Surgical excision is needed when low phosphate diet and phosphate binders are ineffective. Sporadic reports have supported acetazolamide use. Read More

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http://dx.doi.org/10.1002/ajmg.a.36476DOI Listing
June 2014
4 Reads

Mother-to-daughter transmission of Kenny-Caffey syndrome associated with the recurrent, dominant FAM111A mutation p.Arg569His.

Clin Genet 2014 Oct 23;86(4):394-5. Epub 2013 Oct 23.

Department of Genetics Children's Hospital of Eastern Ontario, Ottawa, ON, Canada; University of Ottawa, Ottawa, ON, Canada.

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http://dx.doi.org/10.1111/cge.12290DOI Listing
October 2014
1 Read

[Child with crooked legs].

Tidsskr Nor Laegeforen 2014 Feb;134(4):422

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http://dx.doi.org/10.4045/tidsskr.13.1183DOI Listing
February 2014
2 Reads

Two Japanese familial cases of Caffey disease with and without the common COL1A1 mutation and normal bone density, and review of the literature.

Eur J Pediatr 2014 Jun 4;173(6):799-804. Epub 2014 Jan 4.

Department of Pediatrics, Osaka University Graduate School of Medicine, 2-2 Yamada-oka, Suita, Osaka, 565-0871, Japan.

Unlabelled: Caffey disease, also known as infantile cortical hyperostosis, is a rare bone disease characterized by acute inflammation with swelling of soft tissues and hyperostosis of the outer cortical surface in early infancy. The common heterozygous mutation of the COL1A1 gene, p.Arg1014Cys, has been reported in patients with Caffey disease. Read More

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http://dx.doi.org/10.1007/s00431-013-2252-8DOI Listing
June 2014
5 Reads

Caffey disease: new perspectives on old questions.

Bone 2014 Mar 31;60:246-51. Epub 2013 Dec 31.

Pediatric Nephrology Unit and Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA. Electronic address:

The autosomal dominant form of Caffey disease is a largely self-limiting infantile bone disorder characterized by acute inflammation of soft tissues and localized thickening of the underlying bone cortex. It is caused by a recurrent arginine-to-cysteine substitution (R836C) in the α1(I) chain of type I collagen. However, the functional link between this mutation and the underlying pathogenetic mechanisms still remains elusive. Read More

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http://dx.doi.org/10.1016/j.bone.2013.12.030DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3987944PMC
March 2014
2 Reads

Unusual cause of hypocalcemic seizures in a neonate.

Indian J Pediatr 2014 Aug 3;81(8):831-2. Epub 2013 Dec 3.

Department of Pediatrics, University College of Medical Sciences and Guru Tegh Bahadur Hospital, Delhi, 110095, India,

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http://dx.doi.org/10.1007/s12098-013-1307-1DOI Listing
August 2014
2 Reads

Mass lesions in right fifth toe in a dialysis patient: which surgery?

ANZ J Surg 2013 Dec;83(12):991

Division of Nephrology, Department of Internal Medicine, Tri-Service General Hospital, National Defense Medical Center, Taipei, Taiwan.

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http://dx.doi.org/10.1111/ans.12230DOI Listing
December 2013
3 Reads