MON-375 A Sporadic Case of Camurati-Engelmann Disease: A Rare Sclerosing Bone Disorder

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Angioid streaks in a case of Camurati–Engelmann disease

Camurati-Engelmann disease (CED) is a rare autosomal dominant disease with various phenotypic expressions. The hallmark of the disease is bilateral symmetric diaphyseal hyperostosis of the long bones with progressive involvement of the metaphysis. Ocular manifestations occur rarely and mainly result from bony overgrowth of the orbit and optic canal stenosis. We report a case of CED showing angi...

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[Camurati-Engelmann disease].

1Senior Registrar, Endocrinology, 2Consultant Endocrinologist, 3Consultant Radiologist, 4Senior Registrar, Orthopedic, 5Consultant Orthopedic Surgeon, 6Consultant Histo Pathologist, National Hospital of Sri Lanka. Figure 1. Xray skull – lateral. Figure 2. Histology of the bone biopsy shows mature thick cortical lamellar bone with regular prominent cement lines (thick arrow) with prominent osteo...

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Camurati–Engelmann disease-a rare cause of tetany identified on bone scintigraphy

RATIONALE Camurati-Engelmann disease (i.e., progressive diaphyseal dysplasia) is an extremely rare autosomal dominant bone disorder. The most common clinical manifestations were chronic skeletal pain, waddling gait, muscular weakness. PATIENT CONCERNS We described that a 27-year-old male with a 1-year history of intermittent tetany was referred for bone scintigraphy. The whole body bone scan ...

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Regarding Camurati-Engelmann Disease: In Reply

Alisher J. Yuldashev, Chang Ho Shin, Yong Sung Kim, Woo Young Jang, Moon Seok Park, Jong Hee Chae, Won Joon Yoo, In Ho Choi, Ok Hwa Kim, Tae-Joon Cho, Reply: We thank Dr. Viana and colleagues for the interest in our study. It was interesting to know about four Brazilian patients with Camurati-Engelmann disease (CED). Making a timely and correct diagnosis is still important to avoid unnecessary ...

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Skull base manifestations of Camurati-Engelmann disease.

OBJECTIVE To describe presenting symptoms, evaluation findings, and surgical management of cranial base hyperostosis in patients with Camurati-Engelmann disease (CED). DESIGN Retrospective study and literature review. SETTING The Mayo Clinic, Rochester, Minnesota. PATIENTS A total of 306 patients diagnosed as having CED, including 12 primarily evaluated at our institution between 1968 and...

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ژورنال

عنوان ژورنال: Journal of the Endocrine Society

سال: 2020

ISSN: 2472-1972

DOI: 10.1210/jendso/bvaa046.723