Camurati-Engelmann Syndrome (Camurati-Engelmann Disease)

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:

Networked: 47 relevant articles (4 outcomes, 0 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Pain (Aches)
2.	Hyperostosis
3.	Marfan Syndrome (Marfan's Syndrome)
4.	Osteopetrosis
5.	Pycnodysostosis

Experts

1.	Makita, Y: 3 articles (08/2001 - 03/2000)
2.	Guise, Theresa A: 2 articles (11/2015 - 12/2013)
3.	Mohammad, Khalid S: 2 articles (11/2015 - 12/2013)
4.	Azhar, Mohamad: 2 articles (12/2013 - 06/2009)
5.	Van Hul, W: 2 articles (07/2013 - 11/2000)
6.	Ikegawa, Shiro: 2 articles (10/2007 - 01/2002)
7.	Van Hul, Wim: 2 articles (10/2003 - 02/2003)
8.	Janssens, Katrien: 2 articles (10/2003 - 02/2003)
9.	Trivedi, Trupti: 1 article (11/2015)
10.	Xie, Wenjun: 1 article (11/2015)

Drugs and Biologics

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

1.	Losartan (Cozaar)FDA LinkGeneric 10/01/2014 - "We hypothesized that due to its anti-TGFβ1 activity, losartan might be beneficial in Camurati-Engelmann disease. " 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."
2.	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."
3.	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." 10/01/2007 - "Progressive diaphyseal dysplasia (MIM 131300), also known as Camurati-Engelmann disease (CED), is a rare autosomal dominant craniotubular dysplasia caused by mutations in the transforming growth factor beta1 (TGF-beta1) gene. " 12/01/2001 - "Phenotypic variability at the TGF-beta1 locus in Camurati-Engelmann disease." 11/01/2000 - "Mutations in the gene encoding the latency-associated peptide of TGF-beta 1 cause Camurati-Engelmann disease." 06/01/2009 - "Transforming growth factor beta1 (TGFbeta1) is a multifunctional growth factor involved in wound healing, tissue fibrosis, and in the pathogenesis of many syndromic diseases (e.g., Marfan syndrome, Camurati-Engelmann disease) and muscular, neurological, ophthalmic, cardiovascular and immunological disorders, and cancer. "
4.	Transforming Growth Factor beta (TGF-beta)IBA 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." 01/01/2002 - "We recently found mutations of the transforming growth factor beta 1 (TGF-beta1) gene (TGFB1) in 9 families, in which progressive diaphyseal dysplasia (Camurati-Engelmann disease) is segregating [Kinoshita et al., 2000: Nat Genetics 26:19-20]. " 12/01/2006 - "Bone and cartilage and their disorders are addressed under the following headings: functions of bone; normal and abnormal bone remodeling; osteopetrosis and osteoporosis; epithelial-mesenchymal interaction, condensation and differentiation; osteoblasts, markers of bone formation, osteoclasts, components of bone, and pathology of bone; chondroblasts, markers of cartilage formation, secondary cartilage, components of cartilage, and pathology of cartilage; intramembranous and endochondral bone formation; RUNX genes and cleidocranial dysplasia (CCD); osterix; histone deacetylase 4 and Runx2; Ligand to receptor activator of NFkappaB (RANKL), RANK, osteoprotegerin, and osteoimmunology; WNT signaling, LRP5 mutations, and beta-catenin; the role of leptin in bone remodeling; collagens, collagenopathies, and osteogenesis imperfecta; FGFs/FGFRs, FGFR3 skeletal dysplasias, craniosynostosis, and other disorders; short limb chondrodysplasias; molecular control of the growth plate in endochondral bone formation and genetic disorders of IHH and PTHR1; ANKH, craniometaphyseal dysplasia, and chondrocalcinosis; transforming growth factor beta, Camurati-Engelmann disease (CED), and Marfan syndrome, types I and II; an ACVR1 mutation and fibrodysplasia ossificans progressiva; MSX1 and MSX2: biology, mutations, and associated disorders; G protein, activation of adenylyl cyclase, GNAS1 mutations, McCune-Albright syndrome, fibrous dysplasia, and Albright hereditary osteodystrophy; FLNA and associated disorders; and morphological development of teeth and their genetic mutations."
5.	Adrenal Cortex Hormones (Corticosteroids)IBA 01/01/1981 - "Engelmann's disease and the effect of corticosteroids. " 10/01/1970 - "Corticosteroids in the treatment of Engelmann's disease: progressive diaphyseal dysplasia." 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." 08/01/2005 - "The authors report on two women with typical presentation of severe Camurati-Engelmann disease whose treatment with bisphosphonates failed to add any improvement beyond that elicited by corticosteroids alone."
6.	Ribbing diseaseIBA 01/01/2005 - "Although this patient partly presented characteristics of Ribbing disease and Camurati-Engelmann disease, the focal involvement of bilateral femora suggested an unknown pathogenesis." 03/13/2000 - "Intrafamilial phenotypic variability in Engelmann disease (ED): are ED and Ribbing disease the same entity?" 04/01/1963 - "Hereditary multiple diaphyseal sclerosis: Ribbing's disease or Engelmann's disease?" 01/01/1991 - "The list of conditions constituting this group is relatively short: osteopetrosis (Albers-Schönberg disease), pycnodysostosis (Maroteaux-Lamy disease), enostosis (bone island), osteopoikilosis, osteopathia striata (Voorhoeve disease), progressive diaphyseal dysplasia (Camurati-Engelmann disease), hereditary multiple diaphyseal sclerosis (Ribbing disease), four types of endosteal hyperostosis (van Buchem disease, Worth disease, Nakamura disease, and Truswell-Hansen disease), dysosteosclerosis, metaphyseal dysplasia (Pyle's disease), craniometaphyseal dysplasia, melorheostosis (Leri disease), and craniodiaphyseal dysplasia. "
7.	Transforming Growth Factors (Transforming Growth Factor)IBA 01/01/2013 - "Camurati-Engelmann disease (CED) is a rare form of progressive diaphyseal dysplasia as a result of mutations in the transforming growth factor gene TGFbeta1 on chromosome 19q13.1-q13.3. " 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. " 04/13/2001 - "Domain-specific mutations of a transforming growth factor (TGF)-beta 1 latency-associated peptide cause Camurati-Engelmann disease because of the formation of a constitutively active form of TGF-beta 1."
8.	SclerosteosisIBA 08/01/2009 - "Most cases of generalized hyperostosis of the skull are associated with Camurati-Engelmann disease, craniodiaphyseal dysplasia, Worth-type endosteal hyperostosis, or sclerosteosis. " 07/01/2013 - "Examples are Van Buchem disease, sclerosteosis, craniometaphyseal dysplasia, and Camurati-Engelmann disease. " 10/01/2003 - "By mutation analysis of the TGFB1, SOST and LRP5 genes, we were able to exclude the diagnoses of Camurati-Engelmann disease, Van Buchem disease, sclerosteosis, high-bone-mass trait and endosteal hyperostosis (Worth type). "
9.	Schwartz-Lelek syndromeIBA 07/01/2013 - "Examples are Van Buchem disease, sclerosteosis, craniometaphyseal dysplasia, and Camurati-Engelmann disease. " 01/01/1991 - "The list of conditions constituting this group is relatively short: osteopetrosis (Albers-Schönberg disease), pycnodysostosis (Maroteaux-Lamy disease), enostosis (bone island), osteopoikilosis, osteopathia striata (Voorhoeve disease), progressive diaphyseal dysplasia (Camurati-Engelmann disease), hereditary multiple diaphyseal sclerosis (Ribbing disease), four types of endosteal hyperostosis (van Buchem disease, Worth disease, Nakamura disease, and Truswell-Hansen disease), dysosteosclerosis, metaphyseal dysplasia (Pyle's disease), craniometaphyseal dysplasia, melorheostosis (Leri disease), and craniodiaphyseal dysplasia. " 12/01/2006 - "Bone and cartilage and their disorders are addressed under the following headings: functions of bone; normal and abnormal bone remodeling; osteopetrosis and osteoporosis; epithelial-mesenchymal interaction, condensation and differentiation; osteoblasts, markers of bone formation, osteoclasts, components of bone, and pathology of bone; chondroblasts, markers of cartilage formation, secondary cartilage, components of cartilage, and pathology of cartilage; intramembranous and endochondral bone formation; RUNX genes and cleidocranial dysplasia (CCD); osterix; histone deacetylase 4 and Runx2; Ligand to receptor activator of NFkappaB (RANKL), RANK, osteoprotegerin, and osteoimmunology; WNT signaling, LRP5 mutations, and beta-catenin; the role of leptin in bone remodeling; collagens, collagenopathies, and osteogenesis imperfecta; FGFs/FGFRs, FGFR3 skeletal dysplasias, craniosynostosis, and other disorders; short limb chondrodysplasias; molecular control of the growth plate in endochondral bone formation and genetic disorders of IHH and PTHR1; ANKH, craniometaphyseal dysplasia, and chondrocalcinosis; transforming growth factor beta, Camurati-Engelmann disease (CED), and Marfan syndrome, types I and II; an ACVR1 mutation and fibrodysplasia ossificans progressiva; MSX1 and MSX2: biology, mutations, and associated disorders; G protein, activation of adenylyl cyclase, GNAS1 mutations, McCune-Albright syndrome, fibrous dysplasia, and Albright hereditary osteodystrophy; FLNA and associated disorders; and morphological development of teeth and their genetic mutations."
10.	pamidronate (APD)FDA LinkGeneric 08/01/2001 - "Scintigraphic evaluation of pamidronate and corticosteroid therapy in a patient with progressive diaphyseal dysplasia (Camurati-Engelmann disease)." 03/01/1999 - "Pamidronate in the treatment of progressive diaphyseal dysplasia (Camurati-Engelmann disease)" 08/01/2001 - "A 27-year-old woman with progressive diaphyseal dysplasia (Camurati-Engelmann disease) received pamidronate and corticosteroid therapy for bone pain. "

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. " 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." 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. "
2.	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. "
3.	Aftercare (After-Treatment) 01/01/2008 - "A significant improvement in lower limb pain after treatment with alendronate in two cases of Camurati-Engelmann disease."
4.	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."
5.	Cesarean Section (Caesarean Section) 04/01/2000 - "Caesarean section in a patient with Engelmann's disease." 11/01/1999 - "Caesarean section in a patient with Engelmann's disease."