Camurati-engelmann disease: Review of radioclinical features

Fm, Vanhoenacker; Janssens, Katleen; Hul, Wim Van; Gershoni‐Baruch, Ruth; Brik, Riva; Schepper, A. M. De

doi:10.1080/j.1600-0455.2003.00088.x

Cited by 23 publications

(25 citation statements)

References 6 publications

(14 reference statements)

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“…Devido a isso, alguns autores especulam a possibilidade de existirem duas formas de DDP, uma pura, na qual apenas a ossificação intramembranosa é afetada, e outra mista, na qual também há um componente endocondral (1) . A sua fisiopatologia ainda não é totalmente compreendida, no entanto, as alterações patológicas parecem ser causadas da doença varia de 3 meses até 50 anos de idade (2) . Os sintomas mais freqüentemente encontrados são dores nos membros inferiores, fraqueza muscular e marcha cambaleante.…”

Section: Introductionunclassified

Doença de Camurati-Engelmann: relato de caso com acometimento ósseo grave

et al. 2005

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Neste artigo é descrito um caso da doença de Camurati-Engelmann em um paciente do sexo masculino, com 32 anos de idade, que foi submetido a avaliação radiológica por radiografias simples, cintilografia ós-sea e tomografia computadorizada, as quais mostraram achados clássicos dessa síndrome e alguns aspectos incomuns vistos somente em casos com acometimento ósseo grave. Unitermos: Doença de Camurati-Engelmann; Displasia diafisária progressiva.Camurati-Engelmann disease: a case report of a patient with severe bone involvement. We report a case of Camurati-Engelmann disease in a 32-year-old male patient. This patient was submitted to radiological evaluation including plain X-rays, bone scintigraphy and computed tomography, which showed typical findings of this syndrome and uncommon aspects seen only in cases of severe bone involvement.

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Section: Introductionunclassified

Doença de Camurati-Engelmann: relato de caso com acometimento ósseo grave

et al. 2005

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“…These patients may present with increased fatigability (due to narrowing of the medullary cavity), as well as leg pain and a waddling gait (due to sclerotic expansion of diaphyseal segments), in the setting of normal laboratory studies [4]. The definitive diagnosis is made on the basis of radiographic findings: fusiform cortical thickening in the diaphyseal portions of tubular bones, occurring in a symmetrical distribution [30]. Although sporadic cases have been described, patients usually have a positive family history.…”

Section: Discussion and Treatmentmentioning

confidence: 99%

“…Camurati-Engelmann disease, also known as progressive diaphyseal dysplasia, is a rare autosomal dominant disorder of intramembranous ossification [4,30]. The pathophysiology of this disease process is based in aberrant endosteal and periosteal bone formation, producing hyperostosis of the cranial and tubular bones [4].…”

Section: Discussion and Treatmentmentioning

confidence: 99%

Chronic Bilateral Thigh and Knee Discomfort in an 18-year-old Man

Templeton

Bauer

Lietman

2008

Clinical Orthopaedics &Amp; Related Research

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An 18-year-old man presented with severe, intermittent bilateral thigh and knee pain of approximately 6 months' duration. His symptoms had initially manifested as localized anterior left knee pain 2 years earlier, and he had been treated with high-dose ibuprofen and physical therapy for the presumptive diagnosis of patellofemoral syndrome. Despite attempts at nonoperative management, he had experienced progressive discomfort involving the left thigh, right knee, and right thigh. At the time of presentation, he described pain principally in the left thigh, characterized as self-remitting and without clear antecedent. He also noted long-standing night pain interfering with sleep but denied any fevers, chills, rigors, weight loss, or other constitutional symptoms. A review of systems was otherwise negative, and medical history was unremarkable.Physical examination revealed mildly shortened stance phase with respect to the left lower extremity; the patient noted his limp had been more pronounced during the preceding month. Pelvic compression and palpation along the spinal column and long bones of the lower extremities elicited no focal tenderness. No visible lesions or palpable masses were observed in the trunk or upper or lower extremities. Active and passive range of motion of the hips and knees were full and well tolerated. The patient was neurologically intact with normal sensation to light touch and full motor strength in all muscle groups.Laboratory studies revealed normal white blood cell count Plain radiographs of the left femur (Fig. 1), computerized tomography (CT) scan of the pelvis and bilateral femora, radionuclide scan (Fig. 2), and magnetic resonance imaging (MRI) of the right acetabulum and bilateral femora (Fig. 3) were obtained.Based on the history, physical examination, and imaging studies, what is the differential diagnosis? Imaging InterpretationRadiographs of the left femur (Fig. 1) revealed an osteolytic lesion extending from the intertrochanteric region to the middiaphysis. The lesion demonstrated mild bony remodeling and cortical thickening most evident in the diaphysis with a well-defined proximal margin.A noncontrast CT scan performed through the pelvis and bilateral femora demonstrated multifocal osteolytic lesions in the left femur, right femur, and superior right Each author certifies that he or she has no commercial associations (e.g., consultancies, stock ownership, equity interest, patent/licensing arrangements, etc.) that might pose a conflict of interest in connection with the submitted article. Each author certifies that his or her institution has approved or waived approval for the reporting of this case and that all investigations were conducted in conformity with ethical principles of research.

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“…However, absence of mutations in the coding region of TGF-ß1 was described, indicating the existence of at least one other form 14 . Based on the existence of mutation in the TGF-ß1 or exclusion of the TGF-ß1 gene as the site of mutation, CED is classified as type I 15 or type II 14 , respectively.Bone pain in the extremities was reported to be the most common clinical symptom (68%); other important features were waddling gait (48%), easy fatigability (44%), and generalized muscle weakness (39%), or an asymptomatic presentation 5,6 . Campos-Xavier, et al 10 found no obvious The radiological changes include symmetrical endosteal and subperiosteal cortical thickening, and involve primarily the diaphyses, and may extend to the metaphysis but spare the epiphyses 5,6 .…”

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confidence: 99%

“…The disease begins in an age span between 3 months and 50 years old, with higher prevalence in males. It is characterized by progressive cortical expansion, sclerosis, and symmetrical hyperostosis affecting the diaphyses of the long bones 4,5 . We describe a case of CED in a female patient with lower limb pain with progressive worsening and difficult diagnosis.…”

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confidence: 99%

Painful Lower Extremities Related to Diaphyseal Dysplasia: Genetic Diagnosis and Treatment

Ribeiro¹,

Guedes²,

Prazeres³

et al. 2009

J Rheumatol

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Camurati-Engelmann disease (CED) is an autosomal-dominant condition, initially described by Cockayne in 1920 1 . Camurati was the first to suggest the hereditary component in 1922, when he reported a rare symmetrical osteitis of lower limbs in a father and son and several others in a total of 4 generations 2 . Later, Engelmann reported a case with muscular wasting and important bone involvement 3 . The disease begins in an age span between 3 months and 50 years old, with higher prevalence in males. It is characterized by progressive cortical expansion, sclerosis, and symmetrical hyperostosis affecting the diaphyses of the long bones 4,5 . We describe a case of CED in a female patient with lower limb pain with progressive worsening and difficult diagnosis.A 37-year-old woman from Manaus, Brazil, was referred for investigation of a 5-year history of fatigue, headache, and pain in both legs, worsening over the preceding year, that had not responded to a variety of analgesics. The initial investigation included the following: normal blood count, erythrocyte sedimentation rate 15 mm/h (ESR; normal 0 to 20); rheumatoid factor 47 II/ml (normal 10 IU/ml), C-reactive protein 10.3 mg/dl (normal < 8 mg/dl), a negative antinuclear factor, alkaline phosphatase 111 U/l (normal 38-126 U/l); serum calcium was 8.7 mg/dl (normal 8.4-10.6), ionized calcium 1.42 (normal 1.2-1.6), urinary calcium 421 mg/24 h (normal 200), inorganic phosphorus 2.8 mg/dl (normal 2.5-4.5), parathyroid hormone 62 pg/ml (normal 7-53); and negative Bence-Jones proteins and normal urinary sediment.Radiographs of both lower limbs showed cortical thickening at the diaphyses, the medium third of the tibias, and distal third of the right and left middle femur causing obliteration of the medullary cavity ( Figure 1); these alterations were confirmed by computed tomography (CT; Figure 2). Radiographs of the forearms were normal. Bone scintigraphy revealed asymmetrical increased uptake in the tibias, femurs, and humerals ( Figure 3A, 3B). Biopsy of the tibias and right femur revealed typical osteoclasts, and osteoblasts distributed in a circle, compatible with hyperostosis and absence of malignancy. Examination revealed proximal muscle weakness in her lower limbs, with absence of muscular atrophy. Her gait was normal. The neurological and systemic examinations were normal and musculoskeletal examination confirmed pain at legs and knees, without arthritis. She had used nonsteroidal antiinflammatory drugs (NSAID), with improvement of clinical symptoms. Repeated laboratory tests were normal. Ophthalmological examination and audiometry were normal. Chest radiograph, head CT, and abdominal ultrasound scans were unremarkable. The clinical findings and characteristic radiological appearance led to the diagnosis of CED. It was decided to initiate prednisone 40 mg/day and maintain symptomatic medications. The molecular genetic investigation showed G653A; R218H mutations in exon-4 of the ß-TGF1 gene, located in chromosome 19q13, confirmed the diagnosis of CED. The symptom...

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Camurati-engelmann disease: Review of radioclinical features

Cited by 23 publications

References 6 publications

Doença de Camurati-Engelmann: relato de caso com acometimento ósseo grave

Doença de Camurati-Engelmann: relato de caso com acometimento ósseo grave

Chronic Bilateral Thigh and Knee Discomfort in an 18-year-old Man

Painful Lower Extremities Related to Diaphyseal Dysplasia: Genetic Diagnosis and Treatment

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