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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General Support Organizations

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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 23 free, full-text research articles on human participants. First 3 results:

Clinical characteristics and treatment outcomes in Camurati-Engelmann disease: A case series.
 

Author(s): Yoon-Myung Kim, Eungu Kang, Jin-Ho Choi, Gu-Hwan Kim, Han-Wook Yoo, Beom Hee Lee

Journal: Medicine (Baltimore). 2018 Apr;97(14):e0309.

 

Camurati-Engelmann disease is an extremely rare disease characterized by hyperostosis of multiple long bones. This condition is caused by heterozygous mutations in the TGFB1 gene.

Last Updated: 31 Dec 1969

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Regarding Camurati-Engelmann Disease: In Reply.
 

Author(s): Alisher J Yuldashev, Chang Ho Shin, Yong Sung Kim, Woo Young Jang, Moon Seok Park, Jong Hee Chae, Won Joon Yoo, In Ho Choi, Ok Hwa Kim, Tae-Joon Cho

Journal: Clin Orthop Surg. 2018 03;10(1):118.

 

Last Updated: 31 Dec 1969

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Regarding Camurati-Engelmann Disease: To the Editor.
 

Author(s): Melissa Machado Viana, Sabrina Versuti Nunes, Davi Coutinho F Fernandes Gomes, Marco Antônio Percope de Andrade, Marcos José Burle de Aguiar

Journal: Clin Orthop Surg. 2018 03;10(1):116-117.

 

Last Updated: 31 Dec 1969

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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: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Galunisertib and Capecitabine in Advanced Resistant TGF-beta Activated Colorectal Cancer
 

Status: Recruiting

Condition Summary: Colorectal Cancer Metastatic

 

Last Updated: 29 Aug 2018

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The Role and Intervention of TGF-β in Abdominal Radiation Injury
 

Status: Not yet recruiting

Condition Summary: Radiotherapy Side Effect; Taking Captopril

 

Last Updated: 1 Aug 2018

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Last Updated: 15 Aug 2018

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