671 results match your criteria Infantile Cortical Hyperostosis


Whole Genome Sequencing Indicates Heterogeneity of Hyperostotic Disorders in Dogs.

Genes (Basel) 2020 02 4;11(2). Epub 2020 Feb 4.

Institute of Genetics, Vetsuisse Faculty, University of Bern, 3012 Bern, Switzerland.

Craniomandibular osteopathy (CMO) and calvarial hyperostotic syndrome (CHS) are proliferative, non-neoplastic disorders affecting the skull bones in young dogs. Different forms of these hyperostotic disorders have been described in many dog breeds. However, an incompletely dominant causative variant for CMO affecting splicing of has been reported so far only in three Terrier breeds. Read More

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http://dx.doi.org/10.3390/genes11020163DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7074049PMC
February 2020

Radiographic overlap of recurrent Caffey disease and chronic recurrent multifocal osteomyelitis (CRMO) with considerations of molecular origins.

Pediatr Radiol 2020 05 23;50(5):618-627. Epub 2019 Dec 23.

Department of Pediatric Radiology, Soroka University Medical Center, Ben-Gurion University, Beer Sheva, Israel.

Caffey disease, or infantile cortical hyperostosis, classically describes a self-limited inflammatory disorder that presents in the infant with fussiness, focal swelling and sometimes fever. Imaging is conventionally limited to radiography, which shows mild to profound subperiosteal bone formation and sometimes deformity. This disease was not uncommonly diagnosed in the late 20 century. Read More

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http://dx.doi.org/10.1007/s00247-019-04590-3DOI Listing

Hypertrophic osteopathy in a cat with cardiac interventricular septal defect.

J Vet Sci 2019 Sep;20(5):e52

Setor de Patologia Veterinária, Departamento de Patologia Clínica Veterinária, Faculdade de Veterinária (FAVET), Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS 91540-000, Brazil.

A 3-year-old mixed-breed female cat was diagnosed with a ventricular septal defect of the heart through an echocardiogram. After a 9-month treatment, progressive and diffuse hard thickening of all limbs was observed, which on radiographic examinations, revealed a marked thickening of the long bones. The necropsy findings were limited to the appendicular skeleton and thoracic vertebrae, in addition to a severe cardiac interventricular septal defect and lung edema. Read More

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http://dx.doi.org/10.4142/jvs.2019.20.e52DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6769326PMC
September 2019
4 Reads

Recessive mutation in GALNT3 causes hyperphosphatemic familial tumoral calcinosis associated with chronic recurrent multifocal osteomyelitis.

Turk J Pediatr 2019 ;61(1):130-133

Department of Pediatric, School of Medicine, The University of Jordan, Jordan, Amman.

Albaramki J, Dmour H, Shboul M, Bonnard C, Venkatesh B, Odeh R. Recessive mutation in GALNT3 causes hyperphosphatemic familial tumoral calcinosis associated with chronic recurrent multifocal osteomyelitis. Turk J Pediatr 2019; 61: 130-133. Read More

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http://dx.doi.org/10.24953/turkjped.2019.01.022DOI Listing
January 2020
2 Reads

Fetuin-A deficiency is associated with infantile cortical hyperostosis (Caffey disease).

Pediatr Res 2019 11 9;86(5):603-607. Epub 2019 Jul 9.

Pediatric Department A and the Immunology Services, "Edmond and Lily Safra" Children's Hospital, Jeffrey Modell Foundation Center, Sheba Medical Center, Tel Hashomer, affiliated to Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.

Background: Infantile cortical hyperostosis (ICH)/Caffey disease is an inflammatory collagenopathy of infancy, manifested by subperiosteal bone hyperplasia. Genetically, ICH was linked with heterozygosity for an R836C mutation in the COL1A1 gene. Although an autosomal-recessive trait is also suspected, it has not been proven thus far. Read More

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http://dx.doi.org/10.1038/s41390-019-0499-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7086575PMC
November 2019
4 Reads

Hyperphosphataemic familial tumoral calcinosis: case report of a rare and challenging disease.

Scand J Rheumatol 2020 Jan 19;49(1):80-81. Epub 2019 Jun 19.

Rheumatology Department, Vila Nova de Gaia/Espinho Hospital, Unit I, Vila Nova de Gaia, Portugal.

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http://dx.doi.org/10.1080/03009742.2019.1602883DOI Listing
January 2020
1 Read

Krüppel-like factor 3 inhibition by mutated lncRNA results in human high bone mass syndrome.

J Exp Med 2019 08 13;216(8):1944-1964. Epub 2019 Jun 13.

Department of Endocrinology, Endocrinology Research Center, Xiangya Hospital of Central South University, Changsha, China

High bone mass (HBM) is usually caused by gene mutations, and its mechanism remains unclear. In the present study, we identified a novel mutation in the long noncoding RNA that is associated with HBM. Subsequent analysis in 1,465 Chinese subjects revealed that heterozygous individuals had higher bone density compared with subjects with WT Mutant increased the formation of the CD31Emcn endothelium in the bone marrow, which stimulated angiogenesis during osteogenesis. Read More

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http://dx.doi.org/10.1084/jem.20181554DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6683986PMC
August 2019
3 Reads

A probable case of infantile cortical hyperostosis in 2nd-4th centuries AD Romania.

Int J Paleopathol 2019 09 29;26:8-13. Epub 2019 May 29.

Molecular Biology Center, Interdisciplinary Research Institute on Bio-Nano-Sciences, Babeș-Bolyai University, 400271, Cluj-Napoca, Romania; Department of Molecular Biology and Biotechnology, Faculty of Biology and Geology, Babeș-Bolyai University, 400006, Cluj-Napoca, Romania.

Objective: This study aims to discuss the differential diagnosis for the pathological alterations displayed on an infant skeleton from Romania.

Materials: One infant skeleton retrieved form the bathhouse of an abandoned Roman fort and dated between the 2nd and the 4th centuries AD.

Methods: All available skeletal elements were analyzed macroscopically. Read More

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http://dx.doi.org/10.1016/j.ijpp.2019.05.004DOI Listing
September 2019
15 Reads

A Rare Case of Lethal Prenatal-Onset Infantile Cortical Hyperostosis.

Yonsei Med J 2019 May;60(5):484-486

Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

Infantile cortical hyperostosis, or Caffey's disease, usually presents with typical radiological features of soft tissue swelling and cortical thickening of the underlying bone. The disease can be fatal when it presents antenatally, especially before a gestational age of 35 weeks. This fatal, premature form of the disease is known to occur in various ethnic groups around the globe, and approximately 30 cases have been reported in English literature. Read More

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http://dx.doi.org/10.3349/ymj.2019.60.5.484DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6479132PMC
May 2019
10 Reads

Intra-medullary osteosclerosis of the tibia in children.

Orthop Traumatol Surg Res 2019 05 8;105(3):551-556. 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
May 2019
19 Reads

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
31 Reads
45.217 Impact Factor

Infantile cortical hyperostosis manifesting as congenital unilateral proptosis.

Can J Ophthalmol 2018 12 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
31 Reads

Autoimmune hyperphosphatemic tumoral calcinosis in a patient with FGF23 autoantibodies.

J Clin Invest 2018 12 29;128(12):5368-5373. Epub 2018 Oct 29.

Skeletal Disorders and Mineral Homeostasis Section, and.

Hyperphosphatemic familial tumoral calcinosis (HFTC)/hyperostosis-hyperphosphatemia syndrome (HHS) is an autosomal recessive disorder of ectopic calcification due to deficiency of or resistance to intact fibroblast growth factor 23 (iFGF23). Inactivating mutations in FGF23, N-acetylgalactosaminyltransferase 3 (GALNT3), or KLOTHO (KL) have been reported as causing HFTC/HHS. We present what we believe is the first identified case of autoimmune hyperphosphatemic tumoral calcinosis in an 8-year-old boy. Read More

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http://dx.doi.org/10.1172/JCI122004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6264742PMC
December 2018
14 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
8 Reads

Hyperphosphatemic Familial Tumoral Calcinosis in Two Siblings with a Novel Mutation in Gene: Experience from Southern Turkey

J Clin Res Pediatr Endocrinol 2019 02 17;11(1):94-99. Epub 2018 Jul 17.

Çukurova University Faculty of Medicine, Department of Pediatric Rheumatology, Adana, Turkey

Inactivating autosomal recessive mutations in fibroblast growth factor 23 genes lead to a rare disorder, hyperphosphatemic familial tumoral calcinosis (HFTC). Patients with HFTC present with hyperphosphatemia and tumor like soft tissue calcifications. Although 78% of patients develop their first symptoms between the ages of 2-13 years, diagnosis is usually delayed until adulthood. Read More

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http://dx.doi.org/10.4274/jcrpe.galenos.2018.2018.0134DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6398194PMC
February 2019
38 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
50 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
12 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
20 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
14 Reads

Hyperphosphatemic tumoral calcinosis caused by FGF23 compound heterozygous mutations: what are the therapeutic options for a better control of phosphatemia?

Pediatr Nephrol 2018 07 28;33(7):1263-1267. Epub 2018 Mar 28.

Centre de Référence des Maladies Rénales Rares, Centre de Référence des Maladies Rares du Calcium et du Phosphate, Hospices Civils de Lyon, Hôpital Femme Mère Enfant, 59 boulevard Pinel, 69677, Bron cedex, France.

Background: Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare autosomal recessive disease caused by mutations in genes encoding FGF23 or its regulators, and leading to functional deficiency or resistance to fibroblast growth factor 23 (FGF23). Subsequent biochemical features include hyperphosphatemia due to increased renal phosphate reabsorption, and increased or inappropriately normal 1,25-dihydroxyvitamin D (1,25-D) levels.

Case-diagnosis/treatment: A 15-year-old girl was referred for a 1. Read More

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http://dx.doi.org/10.1007/s00467-018-3945-zDOI Listing
July 2018
19 Reads

Dialysis as a Treatment Option for a Patient With Normal Kidney Function and Familial Tumoral Calcinosis Due to a Compound Heterozygous FGF23 Mutation.

Am J Kidney Dis 2018 09 14;72(3):457-461. Epub 2018 Mar 14.

Nephrology Division, University of São Paulo School of Medicine, Sao Paulo-SP, Brazil; Universidade Nove de Julho, São Paulo-SP, Brazil. Electronic address:

Primary tumoral calcinosis is a rare autosomal recessive disorder characterized by ectopic calcified tumoral masses. Mutations in 3 genes (GALNT3, FGF23, and KL) have been linked to this human disorder. We describe a case of a 28-year-old man with a history of painful firm masses over his right and left gluteal region, right clavicle region, knees, and left elbow. Read More

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http://dx.doi.org/10.1053/j.ajkd.2017.12.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6109594PMC
September 2018
29 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
8 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
7 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
18 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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http://dx.doi.org/10.1007/s13312-017-1023-4DOI Listing
February 2017
17 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
7 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
7 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
103 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
108 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
140 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
11 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
9 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
29 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
40 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
5 Reads

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://archotol.jamanetwork.com/article.aspx?doi=10.1001/jam
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http://dx.doi.org/10.1001/jamaoto.2015.3197DOI Listing
March 2016
7 Reads

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
21 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
20 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
32 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
June 2016
5 Reads

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
39 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
8 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
17 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
8 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
32 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
5 Reads

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
24 Reads

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
5 Reads