Camurati–Engelmann Disease (Progressive Diaphyseal Dysplasia): Reports of an Indian Kindred

Bhadada, Sanjay Kumar; Sivasubbu, Sridhar; Steenackers, Ellen; Dhiman, Vandana; Bhansali, Anil; Hul, Wim Van

doi:10.1007/s00223-013-9804-9

Cited by 10 publications

(15 citation statements)

References 16 publications

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“…This is best assessed by skeletal scintigraphy, which is a test that primarily reflects physiological or pathological increases in bone turnover . Information on skeletal scintigraphy is absent or patchy in the great majority of reports of large CED kindreds with proven TGFB1 gene mutations …”

Section: Introductionmentioning

confidence: 99%

“…(6) Information on skeletal scintigraphy is absent or patchy in the great majority of reports of large CED kindreds with proven TGFB1 gene mutations. (7)(8)(9)(10)(11)(12)(13)(14)(15)(16)(17) In an extended kindred affected with CED we have attempted to clarify the extent of phenotypic variability and the natural history of the disease, through detailed individual histories of symptoms, and skeletal imaging by both radiography and scintigraphy.…”

Section: Introductionmentioning

confidence: 99%

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Observations on the Natural History of Camurati-Engelmann Disease

Hughes

Hassan

Que

et al. 2019

Journal of Bone and Mineral Research

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Camurati‐Engelmann disease (OMIM 31300) is a rare cranio‐tubular bone dysplasia characterized by osteosclerosis of the long bones and skull caused by dominantly‐inherited mutations in the transforming growth factor beta 1 (TGFB1) gene. A wide variation in phenotype has been recognized, even within families carrying the same mutation. In addition, aspects of the natural history of the disorder, in particular whether it is always progressive or can remit spontaneously, remain uncertain. In a large kindred carrying a TGFB1 gene mutation (c.653G > A; p.R218H) we have attempted to clarify the extent of phenotypic variability and the natural history of the disease through detailed individual histories of symptoms, and skeletal imaging by both radiography and scintigraphy. Only one subject had the classical childhood onset with bone pain in the legs and gait disturbance. Eight subjects reported the onset of leg pain in their teenage years that, by their early 20s, had either resolved or persisted at a low level. Two of these eight later developed cranial nerve palsies. There was a wide variation in the radiographic appearance in adults, but disease extent and activity in long bones, as assessed by scintigraphy, was inversely correlated with age (p < 0.025). In younger subjects the radiographic and scintigraphic appearances were concordant, but in older subjects the scintigram could be quiescent despite florid radiographic changes. Sequential scintigrams in two subjects showed reduced activity in the later scan. One subject had suffered meningoencephalitis in early childhood that resulted in paresis of one arm. The affected arm showed markedly less disease involvement, implicating mechanical or growth factors in its etiology. Our data suggest that the natural history of Camurati‐Engelmann disease can be benign, and that disease activity commonly attenuates in adulthood. Severe cases of childhood onset and/or with cranial nerve involvement, may occur only in a minority of mutation carriers. © 2019 American Society for Bone and Mineral Research.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Observations on the Natural History of Camurati-Engelmann Disease

Hughes

Hassan

Que

et al. 2019

Journal of Bone and Mineral Research

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“…Alongside occasional fatigability, nonspecific limb pain, and mild or moderate hyperostosis of long bones, the present patient appeared to suffer from mild CED. Furthermore, some unaffected patients have been reported within the investigated cases of the R218 mutation (4,7,(28)(29)(30), further indicating the extreme phenotypic variability in CED.…”

Section: Discussionmentioning

confidence: 82%

“…The present study provides strong evidence of variable penetrance for CED. The majority of typical patients with CED, including several cases with the same R218H mutation (4,7,(27)(28)(29)(30), initially present with limb pain and a waddling gait. The patient described in the present study is the first case, to the best of our knowledge, to initially present with only exophthalmos.…”

Section: Discussionmentioning

confidence: 99%

Mild Camurati-Engelamann disease presenting with exophthalmos as the first and only manifestation: A case report

Jiajue

Jiang

et al. 2016

Molecular Medicine Reports

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Camurati-Engelmann disease (CED; MIM 131300), or progressive diaphyseal dysplasia, is a rare autosomal dominant bone disease, which is caused by mutations in the transforming growth factor‑β1 (TGFβ1) gene on chromosome 19q13.1‑13.3. Extremely variable penetrance has been reported to be associated with CED, the most common features of which are limb pain, waddling gait and muscle weakness. The present study reported on a consanguineous Chinese family with one affected individual that initially presented with exophthalmos, which has not previously been reported as an initial manifestation of CED. The proband was a 22-year-old woman that presented with progressive proptosis. Except for increased serum levels of alkaline phosphatase and C‑terminal telopeptide of type I collagen, no other biochemical abnormalities were detected. Whole‑body radiological and bone scintigraphic investigations revealed that hyperostosis and sclerosis predominantly affected the cranial bones, including the skull base, and only mildly affected the long bones. A heterozygous mutation involving a G to A transition at the cDNA position +653 of TGFβ1 was detected in the patient only, but not in her family members, by automated DNA sequencing using an ABI DNA sequencer (Model 377). Based on the clinical, biochemical, radiological and genetic findings, a diagnosis of CED was confirmed. Considering the phenotypic variability associated with CED and the unique manifestations of the patient described in the present study, CED should be taken into account regarding the differential diagnosis of exophthalmos.

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“…Although the majority of CED is diagnosed before the age of 30 years, 3 19) the asymptomatic course of the disease might contribute to delayed diagnosis. Patient 8 was categorized into a separate group (group III) due to the absence of pain at the time of diagnosis, however he experienced pain for some period in adulthood.…”

Section: Discussionmentioning

confidence: 99%

Orthopedic Manifestations of Type I Camurati-Engelmann Disease

et al. 2017

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BackgroundCamurati-Engelmann disease (CED) is a rare genetic skeletal disorder characterized by limb pain, muscle emaciation and weakness, and cortical thickening of the diaphysis of long bones. It is caused by mutations in the transforming growth factor beta 1 (TGFB1) (type I) or other unknown gene(s) (type II). We present 8 consecutive patients with type I CED.MethodsWe retrospectively reviewed medical records and radiographs of type I CED patients with special reference to the mode of presentation, process of diagnostic work-up, and disease course. They were 4 sporadic patients, and two pairs of mother and son.ResultsWe categorized the mode of presentation into three groups. Group I had 4 patients who mainly presented with motor disturbances in young age. They drew medical attention for waddling gait, awkward ambulation or running, difficulty in going upstairs, or a positive Gower's sign at age 4 to 6 years. Subsequent development of limb pain and radiographic abnormality led to the diagnosis of CED at age 6 to 29 years. Group II had 3 patients who mainly presented with limb pain at age 15, 20, and 54 years, respectively. Radiographic evaluation and molecular genetic test led to the diagnosis of CED. The remaining 1 patient (group III) was asymptomatic until age 9 years when bony lesions at the tibiae were found incidentally. For the last 10 years, he intermittently complained of leg pain in the morning or after sports activities, which did not interfere with daily life. All the patients in group I showed a body mass index in the underweight range (< 18.4 kg/m2). At the latest follow-up, 4 patients in groups I and II required medication for the limb pain.ConclusionsCED presents with a wide range of severity. Awareness of this rare disease entity may be the key to timely correct diagnosis. This disease entity should be considered in the differential diagnosis of limb pain or motor disturbance in children to avoid unnecessary diagnostic work-up.

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Camurati–Engelmann Disease (Progressive Diaphyseal Dysplasia): Reports of an Indian Kindred

Cited by 10 publications

References 16 publications

Observations on the Natural History of Camurati-Engelmann Disease

Observations on the Natural History of Camurati-Engelmann Disease

Mild Camurati-Engelamann disease presenting with exophthalmos as the first and only manifestation: A case report

Orthopedic Manifestations of Type I Camurati-Engelmann Disease

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