Angioid streaks in a case of Camurati–Engelmann disease [PDF]
Indian Journal of Ophthalmology, 2017 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
Betül Tugcu +3 more
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Clinical characteristics and identification of a novel TGFB1 variant in three unrelated Chinese families with Camurati‐Engelmann disease [PDF]
Molecular Genetics & Genomic Medicine, 2022 Background To investigate the clinical characteristics and molecular diagnosis of Camurati‐Engelmann disease (CAEND) in Chinese individuals. Methods We recruited six patients aged 14 to 45 years in three unrelated families with CAEND, including five ...
Xiao‐Hui Tao +7 more
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Clinical characteristics and the influence of rs1800470 in patients with Camurati-Engelmann disease [PDF]
Frontiers in Endocrinology, 2022 BackgroundCamurati-Engelmann disease (CED) is a sclerosing bone dysplasia caused by transforming growth factor β1 (TGFB1) gene variants.ObjectiveWe aim to summarize the clinical characteristics and the efficacy of glucocorticoids in 14 individuals with ...
Hanting Liang +9 more
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Camurati-Engelmann disease [PDF]
South African Journal of Radiology, 2011 Camurati-Engelmann disease (CED), or progressive diaphyseal dysplasia, is a rare sclerosing dysplasia of which 250 cases have been described in the English literature.
Neil Bellew, Georg Wagener
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Aberrant activation of TGF-β1 induces high bone turnover via Rho GTPases-mediated cytoskeletal remodeling in Camurati-Engelmann disease [PDF]
Frontiers in Endocrinology, 2022 In the adult skeleton, the bone remodeling process involves a dynamic coordination between osteoblasts and osteoclasts, which is disrupted in diseases with high bone turnover rates and dysregulated transforming growth factor beta 1 (TGF-β1).
Qi Chen +19 more
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Case Report: Vision-threatening manifestations of choroidal osteomas and papilloedema in presumed Camurati-Engelmann disease [PDF]
Frontiers in NeurologyCamurati–Engelmann Disease (CED) is a rare sclerosing bone dysplasia in which skull-base hyperostosis may result in neuro-ophthalmic complications. We report a 21-year-old woman with presumed CED and known bilateral choroidal osteomas who presented with ...
Anika Rao +10 more
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Unveiling the uncommon: diagnostic journey of camurati-engelmann disease in a pediatric patient [PDF]
Pediatric Rheumatology Online JournalBackground Camurati-Engelmann disease (CED), also known as progressive diaphyseal dysplasia, is a rare genetic disorder characterized by abnormal thickening of the long bones’ diaphysis.
Ayşenur Alkaya +3 more
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Anterior Total Hip Arthroplasty With Bulk Femoral Head Autograft in a Patient With Camurati-Engelmann Disease [PDF]
Arthroplasty Today, 2021 Camurati-Engelmann disease (CED) is an extremely rare, sclerosing bone disorder of intramedullary ossification with only 300 reported cases worldwide. The pathogenesis is related to activating mutations in transforming growth factor beta 1, which results
Adam J. Taylor, MD +3 more
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Sri Lanka Journal of Diabetes Endocrinology and Metabolism, 2012 DOI: http://dx.doi.org/10.4038/sjdem.v1i1.4207 Sri Lanka Journal of Diabetes Endocrinology and Metabolism 2011; 1 ...
S Pathmanathan +5 more
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Improvement of Bone Health and Initiation of Puberty Development in Camurati-Engelmann Disease With Glucocorticoid and Losartan Treatment: A Case Report and Review of Literature [PDF]
Frontiers in Endocrinology, 2022 Camurati-Engelmann Disease (CED) is a rare sclerosing bone disease, sometimes associated delayed puberty. The treatment effect of glucocorticoid and angiotensin II receptor blocker (ARB) in bone health and puberty development remain unclear.
Lijia Cui +6 more
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