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

Janssens, Katrien; Vanhoenacker, Filip; Bonduelle, M; Verbruggen, Leon; Maldergem, Lionel Van; Ralston, Stuart H.; Guañabens, Núria; Migone, Nicola; Wientroub, Shlomo; Divizia, Maria Teresa; Bergmann, Carsten; Bennett, Christopher; Şimşek, Suat; Mélancon, Serge B.; Cundy, Tim; Hul, Wim Van

doi:10.1136/jmg.2005.033522

Cited by 221 publications

(278 citation statements)

References 62 publications

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“…There is a wide range of clinical manifestations, severity of bone accumulation, and genetic causes. In Camurati-Engelmann disease (CED), one form of sclerosing bone dysplasia, progressive diaphyseal cortical thickening occurs in long bones (Janssens et al 2006), with first manifestations usually occurring in femur and tibia, and then expanding progressively toward distal areas of the limb, accompanied by chronic pain (Ribbing 1949;Janssens et al 2006). Calvarial and pelvic bone thickening are also common (Janssens et al 2006).…”

Section: Gain Of Bone Mass In Camurati -Engelmann Diseasementioning

confidence: 99%

TGF-β Family Signaling in Connective Tissue and Skeletal Diseases

MacFarlane

Haupt

Dietz

et al. 2017

Cold Spring Harb Perspect Biol

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The transforming growth factor b (TGF-b) family of signaling molecules, which includes TGF-bs, activins, inhibins, and numerous bone morphogenetic proteins (BMPs) and growth and differentiation factors (GDFs), has important functions in all cells and tissues, including soft connective tissues and the skeleton. Specific TGF-b family members play different roles in these tissues, and their activities are often balanced with those of other TGF-b family members and by interactions with other signaling pathways. Perturbations in TGF-b family pathways are associated with numerous human diseases with prominent involvement of the skeletal and cardiovascular systems. This review focuses on the role of this family of signaling molecules in the pathologies of connective tissues that manifest in rare genetic syndromes (e.g., syndromic presentations of thoracic aortic aneurysm), as well as in more common disorders (e.g., osteoarthritis and osteoporosis). Many of these diseases are caused by or result in pathological alterations of the complex relationship between the TGF-b family of signaling mediators and the extracellular matrix in connective tissues.T he transforming growth factor b (TGF-b) family of cytokines comprises the three TGF-b proteins (TGF-b1, TGF-b2, and TGFb3) and related growth and differentiation factors such as activins, inhibins, bone morphogenic proteins (BMPs), and growth and differentiation factors (GDFs). These molecules play critical roles both in normal development and in several pathological conditions, including inflammation, fibrosis, and cancer (reviewed in Li and Flavell 2006;Gordon and Blobe 2008;Ikushima and Miyazono 2010). This review focuses on the role of these proteins in development and homeostasis of the skeleton and other connective tissues (summarized in Fig. 1) and on the diseases that ensue when these pathways are altered. Aberrant signaling in these pathways has been associated with common connective 6 These authors contributed equally to this work.

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Section: Gain Of Bone Mass In Camurati -Engelmann Diseasementioning

confidence: 99%

TGF-β Family Signaling in Connective Tissue and Skeletal Diseases

MacFarlane

Haupt

Dietz

et al. 2017

Cold Spring Harb Perspect Biol

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“…The transforming growth factor b (TGF-b) superfamily signaling pathways are one source of candidate molecules, including activin, other bone morphogenetic proteins, TGF-b isoforms, and all their respective receptors. Members of this superfamily have been implicated in diverse skeletal disorders such as fibrodysplasia ossificans progressive, (3) Camurati-Engelmann disease, (4) and acromesomelic chondrodysplasia, HunterThompson type. (5) The control of growth plate development is complex and under the influence of numerous interacting molecules.…”

Section: Discussionmentioning

confidence: 99%

Evolution of the radiographic appearance of the metaphyses over the first year of life in type V osteogenesis imperfecta: Clues to pathogenesis

Arundel

Offiah

Bishop

2010

Journal of Bone and Mineral Research

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We present the first report of the development of characteristic radiologic appearances of long bones during the first year of life in an infant with type V osteogenesis imperfecta (OI). We show the evolution of metaphyseal abnormalities from a rickets-like appearance to the classically described dense metaphyseal bands. These abnormalities suggest that the underlying defect in type V OI may involve a molecule common to both bone and cartilage that is involved in the regulation of growth plate development and metadiaphyseal ossification. Our findings provide new insights into skeletal development in type V OI and potentially yield useful clues to the identity of the defect underpinning the condition. ß

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“…7 Unlike other bone metabolism disorders, in Camurati-Engelman disease low-impact fractures are rare, and there is controversy about neuromuscular impairment 1,5 probably due to the wide variety of phenotypic expressions described. 8 MRI is as effective as computerized tomography for demonstrating the hyperostotic bone, and the compressive effect on specific cranial nerves (mainly II, VII and VIII) can be characterized well. 2 Perhaps in the near future techniques such as high resolution peripheral quantitative computed tomography (HR-pQCT) 9 could provide additional information.…”

Section: Discussionmentioning

confidence: 99%

Imaging aspects of Camurati-Engelmann disease

Uezato¹,

Dias

Inada

et al. 2016

Rev. Assoc. Med. Bras.

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A 35-year-old female patient undergoing outpatient monitoring at the Specialist Medical Outpatient Clinic (AME, in portuguese acronym) in Mogi Guaçu, São Paulo, Brazil.Since childhood the patient has presented generalized pain in the body, mainly in the lower limbs, which has been more intense for the last 2 years, with no relation to physical effort, and which gets worse with changes in ambient temperature. Generalized weakness, reduced muscle strength and discreetly staggering gait have also been reported, as well the use of hearing aids. Faced with these symptoms, the patient sought successive health services, where she only received symptomatic treatment. Due to the persistence of the complaint, she underwent an X-ray of the lower limbs.Based on the radiographic changes found, bone scintigraphy and magnetic resonance imaging (MRI) examinations were requested. There are no known cases in the family. resultsThe MRI revealed exuberant diffuse cortical thickening in the bone diaphyses, increased diameter of both femurs, intramedullary and peripheral femoral hyperintensity focal areas in the T2 weighted sequences, with enhancement after infusion of the intravenous contrast medium, which may correspond to areas of edema or inflammatory activity. The contracting mass of the muscle and subcutaneous plane had a preserved signal (Figure 1).

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

Cited by 221 publications

References 62 publications

TGF-β Family Signaling in Connective Tissue and Skeletal Diseases

TGF-β Family Signaling in Connective Tissue and Skeletal Diseases

Evolution of the radiographic appearance of the metaphyses over the first year of life in type V osteogenesis imperfecta: Clues to pathogenesis

Imaging aspects of Camurati-Engelmann disease

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