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Genetics Home Reference: your guide to understanding genetic conditions
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Camurati-Engelmann disease

Reviewed April 2008

What is Camurati-Engelmann disease?

Camurati-Engelmann disease is a 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. An increase in the density of the skull results in increased pressure on the brain and can cause a variety of neurological problems, including headaches, hearing loss, vision problems, dizziness (vertigo), ringing in the ears (tinnitus), and facial paralysis. The added pressure that thickened bones put on the muscular and skeletal systems can cause abnormal curvature of the spine (scoliosis), joint deformities (contractures), knock knees, and flat feet (pes planus). Other features of Camurati-Engelmann disease include abnormally long limbs in proportion to height, a decrease in muscle mass and body fat, and delayed puberty.

The age at which affected individuals first experience symptoms varies greatly; however, most people with this condition develop pain or weakness by adolescence. In some instances, people have the gene mutation that causes Camurati-Engelmann disease but never develop the characteristic features of this condition.

How common is Camurati-Engelmann disease?

The prevalence of Camurati-Engelmann disease is unknown. Approximately 200 cases have been reported worldwide.

What genes are related to Camurati-Engelmann disease?

Mutations in the TGFB1 gene cause Camurati-Engelmann disease. The TGFB1 gene provides instructions for producing a protein called transforming growth factor beta-1 (TGFβ-1). The TGFβ-1 protein helps control the growth and division (proliferation) of cells, the process by which cells mature to carry out specific functions (differentiation), cell movement (motility), and the self-destruction of cells (apoptosis). The TGFβ-1 protein is found throughout the body and plays a role in development before birth, the formation of blood vessels, the regulation of muscle tissue and body fat development, wound healing, and immune system function. TGFβ-1 is particularly abundant in tissues that make up the skeleton, where it helps regulate bone growth, and in the intricate lattice that forms in the spaces between cells (the extracellular matrix).

Within cells, the TGFβ-1 protein is turned off (inactive) until it receives a chemical signal to become active. The TGFB1 gene mutations that cause Camurati-Engelmann disease result in the production of a TGFβ-1 protein that is always turned on (active). Overactive TGFβ-1 proteins lead to increased bone density and decreased body fat and muscle tissue, contributing to the signs and symptoms of Camurati-Engelmann disease.

Some individuals with Camurati-Engelmann disease do not have identified mutations in the TGFB1 gene. In these cases, the cause of the condition is unknown.

Related Gene(s)

Changes in this gene are associated with Camurati-Engelmann disease.

  • TGFB1

How do people inherit Camurati-Engelmann disease?

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.

Where can I find information about diagnosis or management of Camurati-Engelmann disease?

These resources address the diagnosis or management of Camurati-Engelmann disease and may include treatment providers.

  • Gene Review: Camurati-Engelmann Disease (http://www.ncbi.nlm.nih.gov/books/NBK1156/)
  • Genetic Testing Registry: Diaphyseal dysplasia (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0011989)

You might also find information on the diagnosis or management of Camurati-Engelmann disease in Educational resources (http://www.ghr.nlm.nih.gov/condition/camurati-engelmann-disease/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/camurati-engelmann-disease/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about Camurati-Engelmann disease?

You may find the following resources about Camurati-Engelmann disease helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for Camurati-Engelmann disease?

  • Camurati-Engelmann Syndrome
  • CED
  • diaphyseal dysplasia
  • diaphyseal hyperostosis
  • Engelmann's Disease
  • PDD

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about Camurati-Engelmann disease?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding Camurati-Engelmann disease?

apoptosis ; autosomal ; autosomal dominant ; bone density ; cell ; differentiation ; dysplasia ; extracellular ; extracellular matrix ; gene ; growth factor ; hyperostosis ; immune system ; inherited ; joint ; mutation ; neurological ; prevalence ; proliferation ; protein ; puberty ; scoliosis ; syndrome ; tinnitus ; tissue ; vertigo

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Campos-Xavier B, Saraiva JM, Savarirayan R, Verloes A, Feingold J, Faivre L, Munnich A, Le Merrer M, Cormier-Daire V. Phenotypic variability at the TGF-beta1 locus in Camurati-Engelmann disease. Hum Genet. 2001 Dec;109(6):653-8. Epub 2001 Nov 9. (http://www.ncbi.nlm.nih.gov/pubmed/11810278?dopt=Abstract)
  • Janssens K, ten Dijke P, Ralston SH, Bergmann C, Van Hul W. Transforming growth factor-beta 1 mutations in Camurati-Engelmann disease lead to increased signaling by altering either activation or secretion of the mutant protein. J Biol Chem. 2003 Feb 28;278(9):7718-24. Epub 2002 Dec 18. (http://www.ncbi.nlm.nih.gov/pubmed/12493741?dopt=Abstract)
  • Janssens K, Vanhoenacker F, Bonduelle M, Verbruggen L, Van Maldergem L, Ralston S, Guañabens N, Migone N, Wientroub S, Divizia MT, Bergmann C, Bennett C, Simsek S, Melançon S, Cundy T, Van Hul W. Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment. J Med Genet. 2006 Jan;43(1):1-11. Epub 2005 May 13. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15894597?dopt=Abstract)
  • Stasolla A, Magliulo G, Bellussi A, Parrotto D, Bibbolino C, Marini M. Imaging of the temporal bone in Camurati-Engelmann dysplasia with an 11-year follow-up. Otol Neurotol. 2005 Jul;26(4):773-7. (http://www.ncbi.nlm.nih.gov/pubmed/16015183?dopt=Abstract)
  • Wallace SE, Lachman RS, Mekikian PB, Bui KK, Wilcox WR. Marked phenotypic variability in progressive diaphyseal dysplasia (Camurati-Engelmann disease): report of a four-generation pedigree, identification of a mutation in TGFB1, and review. Am J Med Genet A. 2004 Sep 1;129A(3):235-47. (http://www.ncbi.nlm.nih.gov/pubmed/15326622?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: April 2008
Published: August 18, 2014