Camurati–Engelmann disease: imaging, clinical features and differential diagnosis

Bartuseviciene, Aldona; Samuilis, Artūras; Skucas, Jovitas

doi:10.1007/s00256-008-0642-1

Cited by 27 publications

(19 citation statements)

References 25 publications

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“…It is reported that the levels of serum ALP were elevated in a large fraction of patients with CED (3). The present study observed that the levels of serum ALP in all patients in the Chinese family were in the normal range, suggesting that serum ALP may not necessarily reflect bone metabolism in Chinese patients with CED.…”

Section: Discussionmentioning

confidence: 99%

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Clinical diagnosis and mutation analysis of a Chinese family with Camurati-Engelmann disease

Chen¹,

Xie²,

et al. 2016

Molecular Medicine Reports

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Camurati-Engelmann disease (CED) is a rare autosomal dominant bone disorder caused by a mutation in transforming growth factor β1 (TGFβ1). The present study aimed to identify a Chinese family with suspected CED based on the clinical symptoms, including pain in extremities, waddling gait, muscle weakness, cortical thickening of the diaphysis of the long bones, and sclerosis of the skull, facial bone, and pelvis. Molecular analysis revealed the presence of the p.Glu169Lys (E169K) mutation in exon 2 of TGFβ1 in patients when compared with the controls. Therefore, the Chinese family was diagnosed with CED due to the presence of the E169K mutation. The present study emphasized the importance of clinical and genetic evidence for the diagnosis of CED. The data presented in the present study are of significance to clinicians, as well as genetic counselors, in the prenatal screening of CED.

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Section: Discussionmentioning

confidence: 99%

“…Sclerotic changes at the base of the skull and pelvis are also frequently observed in the patients (3,4). The genetic cause of CED has been identified as a mutation in the transforming growth factor β1 ( TGFβ1 ) gene (5,6).…”

Section: Introductionmentioning

confidence: 97%

Clinical diagnosis and mutation analysis of a Chinese family with Camurati-Engelmann disease

Chen¹,

Xie²,

et al. 2016

Molecular Medicine Reports

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“…Vertebrae are usually unaffected by CED, as found in our probands. In any case, thickened vertebral body margins have been observed in some patients [Bartuseviciene et al, 2009]. In both probands, the evidence of normal quantitative ultrasound measurements suggested that phalanges of the hand were not affected by the disease, as this usually occurs in patients with CED [Bartuseviciene et al, 2009].…”

mentioning

confidence: 84%

“…graphic hallmarks of the disease, or may show mild to severe disabling symptoms including waddling gait, diffuse and localized bone pain, muscular weakness up to severe hypotrophy, easy fatigability, and a marfanoid body habitus [Janssens et al, 2006;Bartuseviciene et al, 2009]. Bone lesions and bone marrow edema are likely main causes of bone pain in patients with CED [Ziran et al, 2002;Janssens et al, 2006].…”

mentioning

confidence: 99%

Significant Improvement of Clinical Symptoms, Bone Lesions, and Bone Turnover after Long-Term Zoledronic Acid Treatment in Patients with a Severe Form of Camurati-Engelmann Disease

et al. 2017

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Camurati-Engelmann disease (CED) is an ultrarare autosomal dominant bone dysplasia. Cortical thickening of the diaphyses of the long bones with narrowing of the medullary cavity are associated with bone pain, waddling gait, muscular weakness, easy fatigability, and a marfanoid body habitus. There is no specific treatment for CED. Nonsteroidal anti-inflammatory drugs or glucocorticoids are ineffective in improving bone lesions. A family with a mild to severe form of CED is described. Two patients received long-term bisphosphonate treatment: the 19-year-old female proband was treated with zoledronic acid for 2.2 years; the 4-year-old male proband was treated with neridronic acid for 16 months and with zoledronic acid for an additional 18 months. In both probands, zoledronic acid treatment significantly improved the clinical symptoms, bone lesions, ambulation, and body habitus. Before treatment, both probands showed a marked increase in serum levels of osteocalcin, procollagen type I N-terminal propeptide, and cross-linked carboxyterminal telopeptide of type I collagen, reflecting an increased bone turnover. Bone marker levels returned to their normal values during treatment. Zoledronic acid treatment may be an important therapeutic option in patients with severe CED. Biochemical markers of bone turnover could be considered as surrogate indexes of CED activity.

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“…In pediatric patients, sclerosing bone dysplasias (e.g., Ribbing disease, Camurati-Engelmann, etc.) should be primarily excluded [58].…”

Section: Magnetic Resonance Imagingmentioning

confidence: 99%

Advanced imaging of skeletal manifestations of systemic mastocytosis

et al. 2012

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Camurati–Engelmann disease: imaging, clinical features and differential diagnosis

Cited by 27 publications

References 25 publications

Clinical diagnosis and mutation analysis of a Chinese family with Camurati-Engelmann disease

Clinical diagnosis and mutation analysis of a Chinese family with Camurati-Engelmann disease

Significant Improvement of Clinical Symptoms, Bone Lesions, and Bone Turnover after Long-Term Zoledronic Acid Treatment in Patients with a Severe Form of Camurati-Engelmann Disease

Advanced imaging of skeletal manifestations of systemic mastocytosis

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