Ribbing disease: radiographic and biochemical characterization, lack of response to pamidronate

Ziran, Navid; Hill, Suvimol; Wright, Mary E.; Kovacs, Joseph A.; Robey, Pamela Gehron; Wientroub, Shlomo; Collins, Michael T.

doi:10.1007/s00256-002-0552-6

Cited by 33 publications

(23 citation statements)

References 17 publications

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“…Ribbing disease is a rare autosomal recessive bony dysplasia with clinical manifestations similar to CED. Nonetheless, ribbing disease presents in adults with unilateral or asymmetric bilateral long bone involvement (11). No skull involvement, neurological deficit, abnormal gait, or anemia is seen in ribbing disease.…”

Section: Discussionmentioning

confidence: 99%

Camurati-Engelmann Disease Association With Hypogonadism and Primary Hypothyroidism

Low

Bakar

Soon

2014

Iran Red Crescent Med J

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Introduction:Camurati-Engelmann disease (CED) is a rare autosomal dominant disease with various phenotypic expressions. The symptoms usually develop during childhood. The hallmark of the disease is bilateral symmetric diaphyseal hyperostosis of the long bones with progressive involvement of the metaphysis. The epiphysis is strictly spared. The common clinical symptoms are pain of the extremities, muscle wasting, waddling gait, and lethargy. CED is rarely seen in conjunction with hypogonadism. CED-associated hypothyroidism has not been reported yet. Clinical assessment and skeletal survey are important to make the diagnosis.Case Presentation:Hereby we reported a case of CED with concomitant hypogonadism and hypothyroidism. Serial plain radiographs of the patient showed classic and progressive diaphyseal cortical hyperostosis of the long bone.Conclusions:Hyperostosis of the skull was observed in the present case. The characteristic osseous changes of CED were highlighted and the differential diagnoses were discussed.

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Section: Discussionmentioning

confidence: 99%

Camurati-Engelmann Disease Association With Hypogonadism and Primary Hypothyroidism

Low

Bakar

Soon

2014

Iran Red Crescent Med J

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“…The medullary canals may be narrowed. On MR images, the intramedullary and bone marrow edema are characteristic of Ribbing disease [12,21]. Histologically, the most commonly described findings are increased cortical thickness and Haversian canal narrowing [3,8,10,11,14], but the histologic findings of Ribbing disease are not pathognomonic [3].…”

Section: Discussion and Treatmentmentioning

confidence: 99%

“…Given the absence of known etiology but based on the belief that bone marrow edema causes pain, many authors have advocated intramedullary decompression, whether by reaming, curettage, or by making a window at the lesion, for pain relief [3,4,7,9,10,15,21].…”

Section: Discussion and Treatmentmentioning

confidence: 99%

Orthopaedic Case of the Month: Lower Leg Pain in a 41-year-old Woman

Kang

Han

Shin

et al. 2012

Clinical Orthopaedics &Amp; Related Research

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A 41-year-old-woman presented with a 10-year history of left lower leg pain distributed from the midportion of the lower leg to the foot and ankle. She had no history of relevant trauma or constitutional symptoms suggesting systemic illness. Shortly after the pain began she was seen at another hospital; no radiographs were taken but she had an MR scan (Fig. 1). The MR scan showed cortical thickening and bone marrow edema, suggesting chronic inflammation. The patient experienced little relief of her leg pain with 4 weeks of rest. The patient tolerated the pain for 8 years, then her leg pain worsened and she underwent an open biopsy of the bone at the midshaft of the left tibia at another hospital. The bone biopsy reportedly revealed chronic inflammation and osteoporosis. She was diagnosed as having low-grade osteomyelitis at the time. After biopsy the pain immediately subsided. However, the pain recurred 1 year after the biopsy and subsequently progressed. She presented to us 1 year later (2 years after the initial biopsy). There was no relevant familial history. A physical examination showed no swelling, redness, or warmth. There was localized tenderness over the anterior midshaft of the left tibia. The ranges of motion of bilateral hips, knees, and ankles were full.Other than a hemoglobin level of 10.6 g/dL, she had normal laboratory findings. No leukocytosis was evident, and the erythrocyte sedimentation rate (ESR) was 20 mm/ hour (normal range, 0-20 mm/hour), C-reactive protein was 0.01 mg/dL (normal range, 0-0.5 mg/dL), and serum alkaline phosphatase (ALP) was 41 IU/L (normal range, 30-115 IU/L).Plain radiographs, MRI, and technetium-99 bone scan (Tc-99 MDP bone scan) were obtained (Figs.

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“…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%

“…Some studies showed that alendronate, clodronate, pamidronate, and risedronate were ineffective on bone pain relief in patients with CED [Inaoka et al, 2001;Ziran et al, 2002;Castro et al, 2005;Janssens et al, 2006]. By contrast, bone pain relief was reported in 2 adult patients with CED receiving oral pamidronate [de , and carboxyterminal telopeptide of type I collagen (ICTP) ( c ) before (0) and during bisphosphonate treatment.…”

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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Ribbing disease: radiographic and biochemical characterization, lack of response to pamidronate

Cited by 33 publications

References 17 publications

Camurati-Engelmann Disease Association With Hypogonadism and Primary Hypothyroidism

Camurati-Engelmann Disease Association With Hypogonadism and Primary Hypothyroidism

Orthopaedic Case of the Month: Lower Leg Pain in a 41-year-old Woman

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

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