Camurati Engelmann Disease

Common Name(s)

Camurati Engelmann Disease, Camurati-Engelmann Disease, Diaphyseal dysplasia

Camurati-Engelmann disease is a genetic condition that mainly affects the bones. People with this disease have increased bone density, particularly affecting the long bones of the arms and legs. In some cases, the skull and hip bones are also affected. The thickened bones can lead to pain in the arms and legs, a waddling walk, muscle weakness, and extreme tiredness. The age at which affected individuals first experience symptoms varies greatly; however, most people with this condition develop pain or weakness by adolescence.

Camurati-Engelmann disease is caused by a mutation in the TGFB1 gene which is inherited in an autosomal dominant fashion. In some instances, people have the gene mutation that causes Camurati-Engelmann disease but never develop the characteristic features of this condition. In others, features are present, but a mutation cannot be identified. These cases are referred to as Camurati-Engelmann disease type II.
 

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Condition Specific Organizations

Following organizations serve the condition "Camurati Engelmann Disease" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Camurati Engelmann Disease" returned 12 free, full-text research articles on human participants. First 3 results:

[Camurati-Engelmann disease: a case report].
 

Author(s): Joana Almeida, Gustavo Beça, Jorge Laíns

Journal: Acta Reumatol Port. ;38(2):122-6.

 

Camurati-Engelmann disease (CED) or progressive diaphyseal dysplasia is a rare autosomal dominant hereditary disorder, characterized by symmetrical progressive sclerosis of long bones cortical diaphysis. Its presentation and progression is extremely variable. A patient of 42 years ...

Last Updated: 21 Oct 2013

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Menière-like syndrome in Camurati-Engelmann disease.
 

Author(s): Lea Pollak

Journal: Isr. Med. Assoc. J.. 2013 Jul;15(7):390-1.

 

Last Updated: 15 Aug 2013

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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.
 

Author(s): Michael P Whyte, William G Totty, Deborah V Novack, Xiafang Zhang, Deborah Wenkert, Steven Mumm

Journal: J. Bone Miner. Res.. 2011 May;26(5):920-33.

 

We report a 32-year-old man and his 59-year-old mother with a unique and extensive variant of Camurati-Engelmann disease (CED) featuring histopathological changes of osteomalacia and alterations within TGFβ1 and TNFSF11 encoding TGFβ1 and RANKL, respectively. He suffered leg pain ...

Last Updated: 4 May 2011

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Camurati Engelmann Disease" returned 1 free, full-text review articles on human participants. First 3 results:

Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment.
 

Author(s): K Janssens, F Vanhoenacker, M Bonduelle, L Verbruggen, L Van Maldergem, S Ralston, N Guañabens, N Migone, S Wientroub, M T Divizia, C Bergmann, C Bennett, S Simsek, S Melançon, T Cundy, W Van Hul

Journal: J. Med. Genet.. 2006 Jan;43(1):1-11.

 

Camurati-Engelmann disease (CED) is a rare autosomal dominant type of bone dysplasia. This review is based on the unpublished and detailed clinical, radiological, and molecular findings in 14 CED families, comprising 41 patients, combined with data from 10 other previously reported ...

Last Updated: 6 Jan 2006

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Clinical Trial Information This information is provided by ClinicalTrials.gov

TGF-beta Resistant Cytotoxic T-lymphocytes in Treatment of EBV-positive Nasopharyngeal Carcinoma / RESIST-NPC
 

Status: Recruiting

Condition Summary: EBV-positive Nasopharyngeal Carcinoma

 

Last Updated: 3 Feb 2017

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