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Camurati-Engelmann disease

Orpha number ORPHA1328
Synonym(s) Progressive diaphyseal dysplasia
Prevalence Unknown
Inheritance Autosomal dominant
Age of onset All ages
ICD-10
  • Q78.3
ICD-O -
OMIM
UMLS
  • C0011989
MeSH
  • D003966
MedDRA -
SNOMED CT -

Summary

Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability.

The prevalence is unknown but more than 300 cases have been reported to date. CED has been described in various ethnic groups, and males and females are affected equally.

Most of the clinical signs are related to hyperostosis and sclerosis. The age of onset and severity are highly variable, even within the same family. The average age of onset is about 13 years and almost always before 30 years. Patients generally present with pain in the extremities, waddling gait, easy fatigability, and muscle weakness. Pain may be severe, constant and aching and is exacerbated by cold weather and physical activity. Other signs include decreased muscle mass, joint contractures, and sometimes marfanoid body habitus. Later in life, severely affected individuals may present facial abnormalities such as frontal bossing and enlarged mandible, as well as facial paralysis. Other signs of musculoskeletal involvement include lumbar lordosis, kyphosis, scoliosis, coxa valga, genu valgum, and flat feet. Involvement of the orbit may lead to proptosis, papilledema, epiphora, glaucoma, and subluxation of the globe. Conductive and/or sensorineural hearing loss is found in less than 20% of patients. Occasional associated systemic features include anemia, leukocytopenia, and hepatosplenomegaly. Rare signs include sensory loss, slurred speech, dysphagia, cerebellar ataxia, anorexia, decreased subcutaneous tissue, hyperhidrosis of the extremities, delayed dentition, extensive dental caries, delayed puberty, hypogonadism and bladder incontinence.

In more than 90% of patients, mutations in the transforming growth factor TGFB1 gene (19q13.1) are detected.

Diagnosis of CED is based on the clinical and radiographic signs and can be confirmed by molecular genetic testing. CED should be suspected in patients with proximal muscle weakness and hyperostosis of one or more of the long bones on radiographic imaging. The radiographic hallmark of the disorder is bilateral, sometimes symmetrical, periosteal and endosteal bony sclerosis of the diaphyses of long bones resulting in cortical thickening. Skull, spine and pelvic involvement may be found on radiographic examination.

Camurati-Engelmann disease has characteristic clinical and radiological findings, reducing the need for extensive differential diagnosis. Disorders to consider include craniodiaphyseal dysplasia, autosomal dominant Kenny-Caffey syndrome, juvenile Paget disease, Ghosal hematodiaphyseal dysplasia, Worth type autosomal dominant osteosclerosis, sclerosteosis and hyperostosis corticalis generalisata (see these terms).

Prenatal diagnosis for at-risk pregnancies is possible when the disease-causing mutation has been identified in a family.

CED is inherited as an autosomal dominant trait with reduced penetrance. The number of cases caused by de novo mutations is not known. Reduced penetrance complicates genetic counseling.

No disease-modifying treatment is available. Corticosteroids are reported to relieve the symptoms of CED. Analgesics and non-pharmacological methods can be used to treat pain. NSAIDs and bisphosphonates have been found to be ineffective.

CED is a progressive disorder and prognosis is poor. Depending on the severity, quality of life is impaired by pain and reduced mobility.

Expert reviewer(s)

  • Pr Wim VAN HUL

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Detailed information

Clinical genetics review
  • EN (2012)
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