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[PMID]: 28724827
[Au] Autor:Tugcu BL; Sezer T; Elbay A; Özdemir H
[Ad] Address:Department of Ophthalmology, Faculty of Medicine, Bezmialem Vakif University, Istanbul, Turkey.
[Ti] Title:Angioid streaks in a case of Camurati-Engelmann disease.
[So] Source:Indian J Ophthalmol;65(7):628-630, 2017 Jul.
[Is] ISSN:1998-3689
[Cp] Country of publication:India
[La] Language:eng
[Ab] Abstract:Camurati-Engelmann disease (CED) is a rare autosomal dominant disease with various phenotypic expressions. The hallmark of the disease is bilateral symmetric diaphyseal hyperostosis of the long bones with progressive involvement of the metaphysis. Ocular manifestations occur rarely and mainly result from bony overgrowth of the orbit and optic canal stenosis. We report a case of CED showing angioid streaks (ASs) in both fundi with no macular involvement and discuss the possible theories of the pathogenesis of AS in this disease.
[Mh] MeSH terms primary: Angioid Streaks/etiology
Camurati-Engelmann Syndrome/complications
Retina/pathology
[Mh] MeSH terms secundary: Adult
Angioid Streaks/diagnosis
Camurati-Engelmann Syndrome/diagnosis
Female
Fluorescein Angiography
Fundus Oculi
Humans
Tomography, Optical Coherence
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Em] Entry month:1711
[Cu] Class update date: 171109
[Lr] Last revision date:171109
[Js] Journal subset:IM
[Da] Date of entry for processing:170721
[St] Status:MEDLINE
[do] DOI:10.4103/ijo.IJO_910_16

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[PMID]: 28682867
[Au] Autor:Xie P; Huang JM; Li HL; Huang XJ; Wei LG
[Ad] Address:aDepartment of Nuclear Medicine, The Third Hospital, Hebei Medical University bDepartment of Ophthalmology, Hebei General Hospital, Shijiazhuang, Hebei Province, China.
[Ti] Title:Camurati-Engelmann disease-a rare cause of tetany identified on bone scintigraphy: A case report.
[So] Source:Medicine (Baltimore);96(27):e7141, 2017 Jul.
[Is] ISSN:1536-5964
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:RATIONALE: Camurati-Engelmann disease (i.e., progressive diaphyseal dysplasia) is an extremely rare autosomal dominant bone disorder. The most common clinical manifestations were chronic skeletal pain, waddling gait, muscular weakness. PATIENT CONCERNS: We described that a 27-year-old male with a 1-year history of intermittent tetany was referred for bone scintigraphy. The whole body bone scan images showed abnormal increased uptake of the tracer in the long bones of the upper and lower extremities as well as in the skull. DIAGNOSES: Combined the family history, the findings of the images and the genetic study, the diagnosis of Camurati-Engelmann disease was confirmed. INTERVENTIONS AND OUTCOMES: The patient responded well to the treatment of calcium gluconate. LESSONS: Bone scintigraphy would be helpful in the diagnosis and assessing the severity of Camurati-Engelmann disease.
[Mh] MeSH terms primary: Bone and Bones/diagnostic imaging
Camurati-Engelmann Syndrome/complications
Camurati-Engelmann Syndrome/diagnostic imaging
Tetany/diagnostic imaging
Tetany/etiology
[Mh] MeSH terms secundary: Adult
Calcium Gluconate/therapeutic use
Camurati-Engelmann Syndrome/drug therapy
Humans
Male
Radionuclide Imaging
Severity of Illness Index
Tetany/drug therapy
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Nm] Name of substance:SQE6VB453K (Calcium Gluconate)
[Em] Entry month:1707
[Cu] Class update date: 170724
[Lr] Last revision date:170724
[Js] Journal subset:AIM; IM
[Da] Date of entry for processing:170707
[St] Status:MEDLINE
[do] DOI:10.1097/MD.0000000000007141

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[PMID]: 28499806
[Au] Autor:Fyrgiola M; Lianou V; Katoumas K; Dimopoulos I
[Ad] Address:Resident, Department of Oral and Maxillofacial Surgery, Georgios Gennimatas General Hospital, Athens, Greece. Electronic address: mariafyrgiola@gmail.com.
[Ti] Title:A Rare Sporadic Case of Camurati-Engelmann Disease With Jaw Involvement.
[So] Source:J Oral Maxillofac Surg;75(11):2385-2390, 2017 Nov.
[Is] ISSN:1531-5053
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Camurati-Engelmann disease (CED), or progressive diaphyseal dysplasia, is an uncommon bone dysplasia that is inherited in an autosomal-dominant pattern. The disease mainly affects the diaphyses of the long bones but can induce sclerotic changes to the facial skeleton and skull base. The diagnosis of CED is based on clinical and radiologic features. This article presents the clinical and radiologic characteristics of the jaws as visualized on cone-beam computed tomograms of a 46-year-old woman diagnosed with CED.
[Mh] MeSH terms primary: Camurati-Engelmann Syndrome/complications
Jaw Diseases/etiology
[Mh] MeSH terms secundary: Female
Humans
Jaw Diseases/diagnosis
Middle Aged
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Em] Entry month:1711
[Cu] Class update date: 171109
[Lr] Last revision date:171109
[Js] Journal subset:AIM; D; IM
[Da] Date of entry for processing:170514
[St] Status:MEDLINE

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[PMID]: 28261436
[Au] Autor:Yuldashev AJ; Shin CH; Kim YS; Jang WY; Park MS; Chae JH; Yoo WJ; Choi IH; Kim OH; Cho TJ
[Ad] Address:Division of Pediatric Orthopedics, Seoul National University Children's Hospital, Seoul, Korea.; Department of Traumatology and Orthopedics, Children Traumatology and Orthopedics, Neurosurgery and Children Neurosurgery, ashkent Pediatric Medical Institute, Tashkent, Uzbekistan.
[Ti] Title:Orthopedic Manifestations of Type I Camurati-Engelmann Disease.
[So] Source:Clin Orthop Surg;9(1):109-115, 2017 Mar.
[Is] ISSN:2005-4408
[Cp] Country of publication:Korea (South)
[La] Language:eng
[Ab] Abstract:BACKGROUND: Camurati-Engelmann disease (CED) is a rare genetic skeletal disorder characterized by limb pain, muscle emaciation and weakness, and cortical thickening of the diaphysis of long bones. It is caused by mutations in the transforming growth factor beta 1 (TGFB1) (type I) or other unknown gene(s) (type II). We present 8 consecutive patients with type I CED. METHODS: We retrospectively reviewed medical records and radiographs of type I CED patients with special reference to the mode of presentation, process of diagnostic work-up, and disease course. They were 4 sporadic patients, and two pairs of mother and son. RESULTS: We categorized the mode of presentation into three groups. Group I had 4 patients who mainly presented with motor disturbances in young age. They drew medical attention for waddling gait, awkward ambulation or running, difficulty in going upstairs, or a positive Gower's sign at age 4 to 6 years. Subsequent development of limb pain and radiographic abnormality led to the diagnosis of CED at age 6 to 29 years. Group II had 3 patients who mainly presented with limb pain at age 15, 20, and 54 years, respectively. Radiographic evaluation and molecular genetic test led to the diagnosis of CED. The remaining 1 patient (group III) was asymptomatic until age 9 years when bony lesions at the tibiae were found incidentally. For the last 10 years, he intermittently complained of leg pain in the morning or after sports activities, which did not interfere with daily life. All the patients in group I showed a body mass index in the underweight range (< 18.4 kg/m ). At the latest follow-up, 4 patients in groups I and II required medication for the limb pain. CONCLUSIONS: CED presents with a wide range of severity. Awareness of this rare disease entity may be the key to timely correct diagnosis. This disease entity should be considered in the differential diagnosis of limb pain or motor disturbance in children to avoid unnecessary diagnostic work-up.
[Mh] MeSH terms primary: Camurati-Engelmann Syndrome/complications
Camurati-Engelmann Syndrome/diagnostic imaging
Gait
Musculoskeletal Pain/etiology
[Mh] MeSH terms secundary: Adolescent
Adult
Analgesics/therapeutic use
Camurati-Engelmann Syndrome/genetics
Camurati-Engelmann Syndrome/physiopathology
Child
Child, Preschool
Female
Genetic Testing
Humans
Male
Middle Aged
Mobility Limitation
Musculoskeletal Pain/drug therapy
Pain Measurement
Retrospective Studies
Severity of Illness Index
Stair Climbing
Transforming Growth Factor beta1/genetics
Young Adult
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0 (Analgesics); 0 (TGFB1 protein, human); 0 (Transforming Growth Factor beta1)
[Em] Entry month:1710
[Cu] Class update date: 171013
[Lr] Last revision date:171013
[Js] Journal subset:IM
[Da] Date of entry for processing:170307
[St] Status:MEDLINE
[do] DOI:10.4055/cios.2017.9.1.109

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[PMID]: 28137547
[Au] Autor:Wong T; Herschman Y; Patel NV; Patel T; Hanft S
[Ad] Address:Rutgers, Robert Wood Johnson Medical School, New Brunswick, New Jersey, USA. Electronic address: twchunghin@gmail.com.
[Ti] Title:Repeat Intracranial Expansion After Skull Regrowth in Hyperostotic Disease: Technical Note.
[So] Source:World Neurosurg;102:555-560, 2017 Jun.
[Is] ISSN:1878-8769
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:OBJECTIVE AND IMPORTANCE: Camurati-Engelmann disease (CED) is a rare, autosomal-dominant genetic disorder resulting in hyperostosis of the long bones and skull. Patients often develop cranial nerve dysfunction and increased intracranial pressure secondary to stenosis of nerve foramina and hyperostosis. Surgical decompression may provide symptomatic relief in select patients; however, a small number of reports document the recurrence of symptoms due to bony regrowth. We present a patient who had been treated previously with bilateral frontal and parietal craniotomy who experienced recurrence of symptoms due to reossification of her cranial bones. This report underscores the progressive nature of CED and its influence on surgical management. Furthermore, we propose a novel surgical approach with multiple craniectomies and titanium mesh cranioplasties that could potentially offer long-term symptomatic relief. CLINICAL PRESENTATION: A 46-year-old female patient with CED who was treated with ventriculoperitoneal shunting, posterior fossa decompression, and multiple craniotomies 2 decades prior presented with signs and symptoms of increased intracranial pressure. Studies of the skull at presentation demonstrated rethickening of cranial bones that resulted in severely decreased intracranial volume. INTERVENTION: A radical craniectomy, requiring 4 separate bone flaps made up of bilateral frontal and parietal bones, was performed. The remaining coronal and sagittal bony struts were drilled to approximately 1 cm thick. Cranioplasties with 4 separate titanium meshes were performed to preserve the natural contour of the patient's skull. CONCLUSIONS: Although surgical decompression could provide some patients with CED symptomatic relief, clinicians should consider managing CED as a chronic condition. To the authors' knowledge, this is one of few case reports documenting the recurrence of symptoms in a patient with CED treated by surgical intervention. Furthermore, we propose that multiple craniectomies with titanium mesh cranioplasties confer more permanent symptomatic control, and, more importantly, lower the risk of recurrence secondary to cranial hyperostosis.
[Mh] MeSH terms primary: Camurati-Engelmann Syndrome/surgery
Hyperostosis/physiopathology
Skull/growth & development
[Mh] MeSH terms secundary: Camurati-Engelmann Syndrome/diagnostic imaging
Camurati-Engelmann Syndrome/physiopathology
Craniotomy/methods
Decompression, Surgical/methods
Female
Humans
Hyperostosis/diagnostic imaging
Hyperostosis/etiology
Middle Aged
Postoperative Care/methods
Postoperative Complications/etiology
Postoperative Complications/physiopathology
Surgical Flaps
Tomography, X-Ray Computed
Treatment Outcome
Ventriculoperitoneal Shunt/methods
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE; TECHNICAL REPORT
[Em] Entry month:1709
[Cu] Class update date: 170925
[Lr] Last revision date:170925
[Js] Journal subset:IM
[Da] Date of entry for processing:170201
[St] Status:MEDLINE

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[PMID]: 27959412
[Au] Autor:Chen Y; Xie W; Hu F; Chen J; Zheng H; Zhou H; Ni B; Li W; Zhou J
[Ad] Address:Key Laboratory of Genetics and Birth Health of Hunan Province, Family Planning Research Institute of Hunan, Changsha, Hunan 410126, P.R. China.
[Ti] Title:Clinical diagnosis and mutation analysis of a Chinese family with Camurati-Engelmann disease.
[So] Source:Mol Med Rep;15(1):235-239, 2017 Jan.
[Is] ISSN:1791-3004
[Cp] Country of publication:Greece
[La] Language:eng
[Ab] Abstract:Camurati-Engelmann disease (CED) is a rare autosomal dominant bone disorder caused by a mutation in transforming growth factor ß1 (TGFß1). The present study aimed to identify a Chinese family with suspected CED based on the clinical symptoms, including pain in extremities, waddling gait, muscle weakness, cortical thickening of the diaphysis of the long bones, and sclerosis of the skull, facial bone, and pelvis. Molecular analysis revealed the presence of the p.Glu169Lys (E169K) mutation in exon 2 of TGFß1 in patients when compared with the controls. Therefore, the Chinese family was diagnosed with CED due to the presence of the E169K mutation. The present study emphasized the importance of clinical and genetic evidence for the diagnosis of CED. The data presented in the present study are of significance to clinicians, as well as genetic counselors, in the prenatal screening of CED.
[Mh] MeSH terms primary: Camurati-Engelmann Syndrome/diagnosis
Camurati-Engelmann Syndrome/genetics
Point Mutation
Transforming Growth Factor beta1/genetics
[Mh] MeSH terms secundary: Adolescent
Adult
Aged
Asian Continental Ancestry Group/genetics
Base Sequence
Bone and Bones/pathology
Camurati-Engelmann Syndrome/epidemiology
China/epidemiology
DNA Mutational Analysis
Female
Humans
Male
Middle Aged
Pedigree
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0 (Transforming Growth Factor beta1)
[Em] Entry month:1704
[Cu] Class update date: 170403
[Lr] Last revision date:170403
[Js] Journal subset:IM
[Da] Date of entry for processing:161214
[St] Status:MEDLINE
[do] DOI:10.3892/mmr.2016.6024

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[PMID]: 27928112
[Au] Autor:Ichimura S; Sasaki S; Murata T; Fukumura R; Gondo Y; Ikegawa S; Furuichi T
[Ad] Address:Laboratory of Laboratory Animal Science and Medicine, Co-Department of Veterinary Medicine, Faculty of Agriculture, Iwate University, 3-18-8 Ueda, Morioka, Iwate 020-8550, Japan.
[Ti] Title:An ENU-induced p.C225S missense mutation in the mouse Tgfb1 gene does not cause Camurati-Engelmann disease-like skeletal phenotypes.
[So] Source:Exp Anim;66(2):137-144, 2017 May 03.
[Is] ISSN:1881-7122
[Cp] Country of publication:Japan
[La] Language:eng
[Ab] Abstract:Camurati-Engelmann disease (CED) is a rare sclerosing bone disorder in humans with autosomal dominant inheritance. Mutations in the gene (TGFB1) that encodes transforming growth factor-ß1 (TGF-ß1) are causative for CED. TGF-ß1 signaling is enhanced by the CED-causing mutations. In this study, we performed Tgfb1 mutation screening in an ENU-mutagenized mouse genomic DNA library. We identified a missense mutation in which cysteine was substituted by serine at position 225 (p.C225S), that corresponded to the CED-causing mutation (p.C225R). TGF-ß1 mutant protein carrying p.C225S was secreted normally into the extracellular space. Reporter gene assays showed that the p.C225S mutants enhanced TGF-ß signaling at the same level as p.C225R mutants. We generated p.C225S homozygous mice and confirmed that the mature TGF-ß1 levels in the culture supernatants of the calvarial cells from the homozygotes were significantly higher than those from wild-type mice. Although the skull and femur are sclerotic in CED, these phenotypes were not observed in p.C225S homozygous mice. These results suggest that human and mouse bone tissue react differently to TGF-ß1. These findings are useful to pharmacological studies using mouse models in developing drugs that will target TGF-ß signaling.
[Mh] MeSH terms primary: Amino Acid Substitution/genetics
Camurati-Engelmann Syndrome/genetics
Ethylnitrosourea/toxicity
Genetic Association Studies
Mutation, Missense
Transforming Growth Factor beta1/genetics
[Mh] MeSH terms secundary: Animals
Cysteine
Female
Gene Library
HEK293 Cells
Humans
Male
Mice
Mice, Inbred C57BL
Mice, Inbred DBA
Molecular Targeted Therapy
Mutation, Missense/drug effects
Phenotype
Serine
Signal Transduction/genetics
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0 (Tgfb1 protein, mouse); 0 (Transforming Growth Factor beta1); 452VLY9402 (Serine); K848JZ4886 (Cysteine); P8M1T4190R (Ethylnitrosourea)
[Em] Entry month:1707
[Cu] Class update date: 170906
[Lr] Last revision date:170906
[Js] Journal subset:IM
[Da] Date of entry for processing:161209
[St] Status:MEDLINE
[do] DOI:10.1538/expanim.16-0085

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[PMID]: 26830437
[Au] Autor:de Bonilla Damiá Á; García Gómez FJ
[Ad] Address:Servicio de Medicina Nuclear, Hospital Universitario Virgen Macarena, Sevilla, España.
[Ti] Title:Enfermedad de Camurati-Engelmann. Camurati-Engelmann disease.
[So] Source:Reumatol Clin;13(1):48-49, 2017 Jan - Feb.
[Is] ISSN:1885-1398
[Cp] Country of publication:Spain
[La] Language:eng; spa
[Mh] MeSH terms primary: Camurati-Engelmann Syndrome/diagnostic imaging
[Mh] MeSH terms secundary: Adult
Female
Humans
Radionuclide Imaging
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Em] Entry month:1709
[Cu] Class update date: 170901
[Lr] Last revision date:170901
[Js] Journal subset:IM
[Da] Date of entry for processing:160203
[St] Status:MEDLINE

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SciELO Brazil full text

[PMID]: 28001254
[Au] Autor:Uezato S; Dias G; Inada J; Valente M; Fernandes E
[Ad] Address:Resident Physician at Hospital Estadual Vila Alpina/Diagnostic Imaging Service II, associated with the Luiz Roberto Barata Barradas Specialist Medical Outpatient Clinic (AME), São Paulo, SP, Brazil.
[Ti] Title:Imaging aspects of Camurati-Engelmann disease.
[So] Source:Rev Assoc Med Bras (1992);62(9):825-827, 2016 Dec.
[Is] ISSN:1806-9282
[Cp] Country of publication:Brazil
[La] Language:eng
[Mh] MeSH terms primary: Camurati-Engelmann Syndrome/diagnostic imaging
[Mh] MeSH terms secundary: Adult
Cortical Bone/diagnostic imaging
Diaphyses/diagnostic imaging
Extremities/diagnostic imaging
Female
Femur/diagnostic imaging
Humans
Magnetic Resonance Imaging
Radiography
Radionuclide Imaging
Skull/diagnostic imaging
[Pt] Publication type:CASE REPORTS
[Em] Entry month:1707
[Cu] Class update date: 170721
[Lr] Last revision date:170721
[Js] Journal subset:IM
[Da] Date of entry for processing:161222
[St] Status:MEDLINE

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[PMID]: 27484238
[Au] Autor:Jiajue R; Wu B; Jiang Y; Wang O; Li M; Xing X; Xia W
[Ad] Address:Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing 100730, P.R. China.
[Ti] Title:Mild Camurati­Engelamann disease presenting with exophthalmos as the first and only manifestation: A case report.
[So] Source:Mol Med Rep;14(3):2710-6, 2016 Sep.
[Is] ISSN:1791-3004
[Cp] Country of publication:Greece
[La] Language:eng
[Ab] Abstract:Camurati-Engelmann disease (CED; MIM 131300), or progressive diaphyseal dysplasia, is a rare autosomal dominant bone disease, which is caused by mutations in the transforming growth factor­ß1 (TGFß1) gene on chromosome 19q13.1­13.3. Extremely variable penetrance has been reported to be associated with CED, the most common features of which are limb pain, waddling gait and muscle weakness. The present study reported on a consanguineous Chinese family with one affected individual that initially presented with exophthalmos, which has not previously been reported as an initial manifestation of CED. The proband was a 22-year-old woman that presented with progressive proptosis. Except for increased serum levels of alkaline phosphatase and C­terminal telopeptide of type I collagen, no other biochemical abnormalities were detected. Whole­body radiological and bone scintigraphic investigations revealed that hyperostosis and sclerosis predominantly affected the cranial bones, including the skull base, and only mildly affected the long bones. A heterozygous mutation involving a G to A transition at the cDNA position +653 of TGFß1 was detected in the patient only, but not in her family members, by automated DNA sequencing using an ABI DNA sequencer (Model 377). Based on the clinical, biochemical, radiological and genetic findings, a diagnosis of CED was confirmed. Considering the phenotypic variability associated with CED and the unique manifestations of the patient described in the present study, CED should be taken into account regarding the differential diagnosis of exophthalmos.
[Mh] MeSH terms primary: Camurati-Engelmann Syndrome/diagnosis
Exophthalmos/diagnosis
Phenotype
[Mh] MeSH terms secundary: Biomarkers
Bone Density
Camurati-Engelmann Syndrome/blood
Camurati-Engelmann Syndrome/genetics
DNA Mutational Analysis
Female
Genetic Testing
Humans
Multimodal Imaging
Mutation
Transforming Growth Factor beta1/genetics
Young Adult
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Nm] Name of substance:0 (Biomarkers); 0 (Transforming Growth Factor beta1)
[Em] Entry month:1704
[Cu] Class update date: 170406
[Lr] Last revision date:170406
[Js] Journal subset:IM
[Da] Date of entry for processing:160804
[St] Status:MEDLINE
[do] DOI:10.3892/mmr.2016.5548


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