687 results match your criteria Infantile Cortical Hyperostosis

FAM111A induces nuclear dysfunction in disease and viral restriction.

EMBO Rep 2021 02 28;22(2):e50803. Epub 2020 Dec 28.

Department of Molecular Medicine, The Scripps Research Institute, La Jolla, CA, USA.

Mutations in the nuclear trypsin-like serine protease FAM111A cause Kenny-Caffey syndrome (KCS2) with hypoparathyroidism and skeletal dysplasia or perinatally lethal osteocraniostenosis (OCS). In addition, FAM111A was identified as a restriction factor for certain host range mutants of the SV40 polyomavirus and VACV orthopoxvirus. However, because FAM111A function is poorly characterized, its roles in restricting viral replication and the etiology of KCS2 and OCS remain undefined. Read More

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February 2021

FGF23 contains two distinct high-affinity binding sites enabling bivalent interactions with α-Klotho.

Proc Natl Acad Sci U S A 2020 12 30;117(50):31800-31807. Epub 2020 Nov 30.

Department of Pharmacology, Yale University School of Medicine, New Haven, CT 06510;

The three members of the endocrine-fibroblast growth factor (FGF) family, FGF19, 21, and 23 are circulating hormones that regulate critical metabolic processes. FGF23 stimulates the assembly of a signaling complex composed of α-Klotho (KLA) and FGF receptor (FGFR) resulting in kinase activation, regulation of phosphate homeostasis, and vitamin D levels. Here we report that the C-terminal tail of FGF23, a region responsible for KLA binding, contains two tandem repeats, repeat 1 (R1) and repeat 2 (R2) that function as two distinct ligands for KLA. Read More

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December 2020


J Paediatr Child Health 2020 08;56(8):1321-1323

From Pediatric Allergy Immunology Unit, Department of Pediatrics, Advances Pediatrics Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, India.

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FAM111 protease activity undermines cellular fitness and is amplified by gain-of-function mutations in human disease.

EMBO Rep 2020 10 9;21(10):e50662. Epub 2020 Aug 9.

Protein Signaling Program, Novo Nordisk Foundation Center for Protein Research, University of Copenhagen, Copenhagen, Denmark.

Dominant missense mutations in the human serine protease FAM111A underlie perinatally lethal gracile bone dysplasia and Kenny-Caffey syndrome, yet how FAM111A mutations lead to disease is not known. We show that FAM111A proteolytic activity suppresses DNA replication and transcription by displacing key effectors of these processes from chromatin, triggering rapid programmed cell death by Caspase-dependent apoptosis to potently undermine cell viability. Patient-associated point mutations in FAM111A exacerbate these phenotypes by hyperactivating its intrinsic protease activity. Read More

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October 2020

Hyperphosphatemic Tumoral Calcinosis: Pathogenesis, Clinical Presentation, and Challenges in Management.

Front Endocrinol (Lausanne) 2020 8;11:293. Epub 2020 May 8.

Skeletal Disorders and Mineral Homeostasis Section, National Institutes of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, United States.

Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare and disabling disorder of fibroblast growth factor 23 (FGF23) deficiency or resistance. The disorder is manifest by hyperphosphatemia, inappropriately increased tubular reabsorption of phosphate and 1,25-dihydroxy-Vitamin D, and ectopic calcifications. HFTC has been associated with autosomal recessive pathogenic variants in: (1) the gene encoding FGF23; (2) , which encodes a protein responsible for FGF23 glycosylation; and (3) , the gene encoding KLOTHO, a critical co-receptor for FGF23 signaling. Read More

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Kenny-Caffey Syndrome Type 2: A Unique Presentation and Craniofacial Analysis.

J Craniofac Surg 2020 Jul-Aug;31(5):e471-e475

Division of Plastic Surgery, Michael E. DeBakey Department of Surgery, Baylor College of Medicine, and Division of Plastic Surgery, Texas Children's Hospital, Houston, TX.

Kenny-Caffey Syndrome Type 2 (KCS2) is a rare genetic disorder characterized by short stature, skeletal dysplasia, primary hypoparathyroidism, and delayed closure of the anterior fontanelle. Patients with KCS2 typically require multidisciplinary management due to numerous craniofacial and skeletal anomalies. Craniosynostosis, however, has not yet been identified in a patient with KCS2 to the best of our knowledge. Read More

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November 2020

Caffey Disease in Infancy: A diagnostic dilemma for primary care physicians.

Sultan Qaboos Univ Med J 2020 Feb 9;20(1):e109-e111. Epub 2020 Mar 9.

Department of Pediatrics, Sarojini Naidu Children Hospital, Moti Lal Nehru Medical College, Allahabad, India.

Caffey disease is a rare and self-limiting condition characterised by cortical hyperostosis with inflammation of adjacent and muscles. It usually presents in infancy and clinical features include hyperirritability, acute inflammation with swelling of overlying soft tissues and subperiosteal new bone formation. Awareness of the existence of this rare condition and its typical clinical and radiological profile will avoid unnecessary investigations and treatment and help the physician to explain its good prognosis to parents of affected children. Read More

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February 2020

Hyperphosphatemic familial tumoral calcinosis caused by a novel variant in the GALNT3 gene.

J Endocrinol Invest 2020 Aug 3;43(8):1125-1130. Epub 2020 Mar 3.

Endocrine Research Center, Institute of Endocrinology and Metabolism, Iran University of Medical Sciences, No 10, Firoozeh St, Vali-asr Sq, Tehran, Iran.

Aim: Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare endocrine disorder caused by autosomal recessive variants in GALNT3, FGF23, and KL leading to progressive calcification of soft tissues and subsequent clinical effects. The aim of this was to study the cause of HFTC in an Iranian family.

Patients And Methods: Four generations of a family with HFTC were studied for understanding the genetic pattern of the disease. Read More

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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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February 2020

Recurrence of tumoral calcinosis: a case report.

Acta Biomed 2019 12 23;90(4):587-594. Epub 2019 Dec 23.

Radiology Department, National Cancer Institute Pascale Foundation, via M. Semmola 53, I-80131 Naples Italy.

We describe radiographic, contrast-enhanced MDCT and MRI findings with pathologic correlations of an unusual recurrence of tumoral calcinosis, also called Teutschlander disease. The disease was silent in the first decade of life, when it appeared with elbows recurring lesions, until the seventh decade of life, when a left hip active growth lesion developed. A review about tumoral calcinosis pathogenesis, clinical course and imaging differential diagnosis is reported. Read More

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December 2019

Loss of the disease-associated glycosyltransferase Galnt3 alters Muc10 glycosylation and the composition of the oral microbiome.

J Biol Chem 2020 01 27;295(5):1411-1425. Epub 2019 Dec 27.

Developmental Glycobiology Section, NIDCR, National Institutes of Health, Bethesda, Maryland 20892

The importance of the microbiome in health and its disruption in disease is continuing to be elucidated. However, the multitude of host and environmental factors that influence the microbiome are still largely unknown. Here, we examined UDP-GalNAc:polypeptide -acetylgalactosaminyltransferase 3 ()-deficient mice, which serve as a model for the disease hyperphosphatemic familial tumoral calcinosis (HFTC). Read More

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January 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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Evaluation of Commercial Next-Generation Sequencing Bioinformatics Software Solutions.

J Mol Diagn 2020 02 18;22(2):147-158. Epub 2019 Nov 18.

Departments of Pathology and Chemical and Biological Engineering, University of New Mexico, Albuquerque, New Mexico. Electronic address:

Next-generation sequencing (NGS) diagnostics continue to expand rapidly in clinical medicine. An ever-expanding menu of molecular biomarkers is deemed important for diagnostic, prognostic, and therapeutic assessment in patients. The increasing role of NGS in the clinic is driven mainly by the falling costs of sequencing. Read More

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February 2020

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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September 2019

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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January 2020

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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November 2019

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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January 2020

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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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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September 2019

Polyostotic cortical hyperostosis in an 8-week-old cat with a 3-year follow-up.

G Allevi F Serafini

J Small Anim Pract 2021 01 2;62(1):59-64. Epub 2019 May 2.

Clinica Veterinaria Foce, Genova, 16129, Italy.

A 2 month-old female cat, mixed breed, was referred for difficulty moving and severe enlargement of the mandible and limbs. Polyostotic cortical hyperostosis was diagnosed based on diagnostic imaging and histopathological changes of the mandible and limbs. Marked cortical bone thickening was detected on radiographs and CT scan images. Read More

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January 2021

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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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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Hyperphosphataemic tumoral calcinosis.

Lancet 2019 01;393(10167):168

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

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January 2019

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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December 2018

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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December 2018

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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December 2018

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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February 2019