Camurati-Engelmann Syndrome (Progressive Diaphyseal Dysplasia)

An autosomal dominant form of dysplasia that is characterized by progressive thickening of diaphyseal cortex of long bones. Mutations in the gene that encodes TRANSFORMING GROWTH FACTOR BETA1 are one cause of this disorder.

Also Known As:

Progressive Diaphyseal Dysplasia; Camurati-Engelmann Disease; Engelmann Disease; Diaphyseal Dysplasia 1, Progressive; Diaphyseal Hyperostosis; Camurati Engelmann Disease; Camurati Engelmann Syndrome; Diaphyseal Dysplasias, Progressive; Diaphyseal Hyperostoses; Dysplasia, Progressive Diaphyseal; Dysplasias, Progressive Diaphyseal; Hyperostoses, Diaphyseal; Hyperostosis, Diaphyseal; Diaphyseal Dysplasia, Progressive; Engelmann's Disease

Networked: 81 relevant articles (8 outcomes, 1 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Pain (Aches)
2.	Hyperostosis
3.	Osteoporosis
4.	Temporomandibular Joint Disorders (Temporomandibular Joint Disorder)
5.	Camurati-Engelmann Syndrome (Progressive Diaphyseal Dysplasia)

Experts

1.	Van Hul, Wim: 4 articles (03/2022 - 02/2003)
2.	Cao, Xu: 4 articles (01/2018 - 07/2009)
3.	Mumm, Steven: 2 articles (07/2020 - 05/2011)
4.	Wu, Xiangwei: 2 articles (05/2016 - 07/2009)
5.	Guise, Theresa A: 2 articles (11/2015 - 12/2013)
6.	Mohammad, Khalid S: 2 articles (11/2015 - 12/2013)
7.	Azhar, Mohamad: 2 articles (12/2013 - 06/2009)
8.	Ikegawa, Shiro: 2 articles (10/2007 - 01/2002)
9.	Le Merrer, M: 2 articles (08/2005 - 12/2001)
10.	Janssens, Katrien: 2 articles (07/2003 - 02/2003)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Camurati-Engelmann Syndrome:

1.	Alendronate (Alendronate Sodium)FDA LinkGeneric 01/01/2008 - "A significant improvement in lower limb pain after treatment with alendronate in two cases of Camurati-Engelmann disease." 01/01/2020 - "Efficacy of denosumab therapy after alendronate treatment for a 66-year-old woman with Camurati-Engelmann disease and osteoporosis: a case report."
2.	Losartan (Cozaar)FDA LinkGeneric 10/01/2014 - "We hypothesized that due to its anti-TGFβ1 activity, losartan might be beneficial in Camurati-Engelmann disease. " 07/01/2019 - "Camurati-Engelmann Disease with Good Treatment Response to Losartan." 10/01/2018 - "Failure of conventional treatment and losartan in Camurati-Engelmann disease: A case report." 10/01/2014 - "We cautiously conclude that TGFβ1 inhibition with losartan deserves further evaluation in the clinical management of Camurati-Engelmann disease." 11/01/2014 - "Elimination of pain and improvement of exercise capacity in Camurati-Engelmann disease with losartan."
3.	MineralsIBA 02/01/1994 - "Alterations of immune modulated processes and changes in bone mineral homeostasis and in endogenous cortisol metabolism during pregnancy can be considered as possible explanations for the temporary improvement in clinical and scintigraphic signs of progressive diaphyseal dysplasia in this patient."
4.	Hydrocortisone (Cortisol)FDA LinkGeneric 02/01/1994 - "Alterations of immune modulated processes and changes in bone mineral homeostasis and in endogenous cortisol metabolism during pregnancy can be considered as possible explanations for the temporary improvement in clinical and scintigraphic signs of progressive diaphyseal dysplasia in this patient."
5.	Zoledronic Acid (Zometa)FDA Link 11/01/2017 - "Significant Improvement of Clinical Symptoms, Bone Lesions, and Bone Turnover after Long-Term Zoledronic Acid Treatment in Patients with a Severe Form of Camurati-Engelmann Disease."
6.	Denosumab FDA Link 01/01/2020 - "Efficacy of denosumab therapy after alendronate treatment for a 66-year-old woman with Camurati-Engelmann disease and osteoporosis: a case report."
7.	Transforming Growth Factors (Transforming Growth Factor)IBA 01/01/2023 - "The diagnosis of Camurati-Engelmann disease was confirmed on patients' history, clinical and radiological findings, and genetic testing for transforming growth factor beta-1 mutation. " 01/01/2017 - "Camurati-Engelmann disease (CED) is a rare autosomal dominant bone disorder caused by a mutation in transforming growth factor β1 (TGFβ1). " 01/01/2018 - "This study was undertaken to investigate the key role of transforming growth factor-β (TGF-β) signalling in the cartilage and subchondral bone of the TMJ using a temporomandibular joint disorder (TMD) rat model, an ageing mouse model and a Camurati-Engelmann disease (CED) mouse model. " 01/01/2022 - "Camurati-Engelmann disease (CED) is a sclerosing bone dysplasia caused by transforming growth factor β1 (TGFB1) gene variants. " 12/01/2001 - "Camurati-Engelmann disease (CED) [OMIM 131300] is an autosomal dominant sclerosing bone dysplasia recently ascribed to mutations of the transforming growth factor (TGF-beta1) gene on chromosome 19q13.1-q13.3. "
8.	Transforming Growth Factor beta1 (TGF beta 1)IBA 05/28/2010 - "R218H) that cause the rare bone disorder Camurati-Engelmann disease disrupted dimerization and reduced the stability of the latent TGF-beta1 complex." 07/01/2009 - "Analyzing mice carrying a CED-derived mutant TGFB1 (encoding TGF-beta1), which show the typical progressive diaphyseal dysplasia seen in the human disease, we found high levels of active TGF-beta1 in the bone marrow. " 10/01/2006 - "To identify the mutation in transforming growth factor-beta1 gene (TGF beta1) in a Chinese patient with Camurati-Engelmann disease(CED). " 12/01/2001 - "Phenotypic variability at the TGF-beta1 locus in Camurati-Engelmann disease." 08/01/2009 - "Camurati-Engelmann disease (CED) is an autosomal dominant progressive diaphyseal dysplasia caused by mutations in the transforming growth factor-beta1 (TGFB1) gene. "
9.	Adrenal Cortex Hormones (Corticosteroids)IBA 07/01/1995 - "Successful treatment with corticosteroid in a patient with progressive diaphyseal dysplasia." 08/01/1985 - "Clinical and scintigraphic evaluation of corticosteroid treatment in a case of progressive diaphyseal dysplasia." 01/01/1981 - "Engelmann's disease and the effect of corticosteroids. " 02/01/1985 - "Progressive diaphyseal dysplasia: evaluation of corticosteroid therapy." 06/01/1977 - "The systemic administration of corticosteroids for the control of Engelmann's disease and systemic lupus erythematosus may have been a contributory factor in the etiology and management of glaucoma."
10.	Transforming Growth Factor beta (TGF-beta)IBA 07/01/2020 - "Hypersclerosis of the affected bones led to the initiation of a sclerotic bone dysplasia workup and sequencing of the transforming growth factor beta 1 gene located on chromosome 19q13 revealed a heterozygous rare missense variant in exon-4, leading to a final diagnosis of Camurati-Engelmann disease (CED). " 01/01/2019 - "Camurati-Engelmann disease (OMIM 31300) is a rare cranio-tubular bone dysplasia characterized by osteosclerosis of the long bones and skull caused by dominantly-inherited mutations in the transforming growth factor beta 1 (TGFB1) gene. " 12/01/2013 - "Dysregulated transforming growth factor beta (TGF-β) signaling is associated with a spectrum of osseous defects as seen in Loeys-Dietz syndrome, Marfan syndrome, and Camurati-Engelmann disease. " 05/01/2011 - "Camurati-Engelmann disease: unique variant featuring a novel mutation in TGFβ1 encoding transforming growth factor beta 1 and a missense change in TNFSF11 encoding RANK ligand." 02/28/2003 - "Transforming growth factor-beta 1 mutations in Camurati-Engelmann disease lead to increased signaling by altering either activation or secretion of the mutant protein."

Therapies and Procedures

1.	Decompression 05/01/1996 - "We describe a patient with Engelmann's disease who presented in this manner and who benefited from an eighth nerve decompression procedure. " 01/25/2021 - "Decompression of the internal auditory canal via the retrosigmoid approach in a patient with Camurati-Engelmann disease: illustrative case." 05/01/1996 - "Vestibular nerve dysfunction and decompression in Engelmann's disease." 10/01/1977 - "The usefulness of bony decompression of the orbits in Engelmann's disease is requestionable." 12/01/2004 - "Internal auditory canal decompression and cochlear implantation in Camurati-Engelmann disease."
2.	Therapeutics 01/01/2012 - "We present two cases of Camurati-Engelmann disease which responded to different medical therapies. " 11/28/2017 - "Pain improvement in Camurati-Engelmann disease after anti-TNFα therapy." 02/01/1985 - "Progressive diaphyseal dysplasia: evaluation of corticosteroid therapy." 01/01/2020 - "Efficacy of denosumab therapy after alendronate treatment for a 66-year-old woman with Camurati-Engelmann disease and osteoporosis: a case report." 08/01/2001 - "Scintigraphic evaluation of pamidronate and corticosteroid therapy in a patient with progressive diaphyseal dysplasia (Camurati-Engelmann disease)."
3.	Craniotomy 07/01/2005 - "We present two patients with cranial hyperostosis secondary to Camurati-Engelmann's disease who were treated successfully with a single surgery involving a combination of multiple craniotomies for cranial vault decompression. "
4.	Aftercare (After-Treatment) 01/01/2008 - "A significant improvement in lower limb pain after treatment with alendronate in two cases of Camurati-Engelmann disease."
5.	Cochlear Implantation 02/01/2000 - "Cochlear implantation for auditory rehabilitation in Camurati-Engelmann disease." 12/01/2004 - "Internal auditory canal decompression and cochlear implantation in Camurati-Engelmann disease." 02/01/2000 - "The otologic manifestations of Camurati-Engelmann disease are reviewed, and issues related to cochlear implantation in this rare disease are discussed."