Engelmann's disease Osteopathia hyperostotica (sclerotisans) multiplex infantilis; progressive diaphysial dysplasia

Bingold, A. C.

doi:10.1002/bjs.18003714703

Cited by 14 publications

(9 citation statements)

References 9 publications

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“…Two patients were described as having small testes [Engelmann, 1929;Bingold, 1950]. Cryptorchidism was reported in one male in addition to our propositus.…”

Section: Discussion Clinical Findings In Pddmentioning

confidence: 65%

“…The differential diagnosis for PDD has been extensively discussed [Bingold, 1950;Jackson et al, 1954;Smith et al, 1977;Jacobson, 1985;Naveh et al, 1985]. However, few disorders closely resemble the clinical presentation and radiographic findings.…”

Section: Discussion Clinical Findings In Pddmentioning

confidence: 94%

“…Musculoskeletal involvement can lead to varying degrees of lumbar lordosis, kyphosis, scoliosis, coxae valga, genua valga, pes planus, and frontal bossing. Short stature was reported in 16 cases, but 14 individuals were Data are compiled from 199 cases reported in the literature including data from this family: [Cockayne, 1920;Camurati, 1922;Engelmann, 1929;Lauterberg, 1931;Fritsch, 1932;Neuhauser et al, 1948;Sear, 1948;Wiedemann, 1948;Michaelis, 1949;Ribbing, 1949;Bingold, 1950;Gvozdanovic, 1950;Stronge and McDowell, 1950;Fairbanks, 1951;Gillespie and Mussey, 1951;Gulledge and White, 1951;Lavine and Koven, 1952;Lima and Rocha, 1952;Anderson, 1953;Jammes et al, 1953;Ortolani and Castagnari, 1953;Paul, 1953;Chipps et al, 1954;Farreras Valenti et al, 1954;Jackson et al, 1954;Perassi, 1954;Weingraber, 1954;Cohen and States, 1956;Griffiths, 1956;Jammes et al, 1956;Singleton et al, 1956;Stewart and Cole, 1956;Roth, 1957;Stegman and Peterson, 1957;Mikity and Jacobson, 1958;Girdany, 1959;Battaglia and Venturi, 1960;Goerke, 1960;Viviani, 1960;…”

Section: Discussion Clinical Findings In Pddmentioning

confidence: 99%

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Marked phenotypic variability in progressive diaphyseal dysplasia (Camurati–Engelmann disease): Report of a four‐generation pedigree, identification of a mutation in TGFB1, and review

Wallace

Lachman

Mekikian

et al. 2004

American J of Med Genetics Pt A

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Progressive diaphyseal dysplasia (PDD) (Camurati-Engelmann disease) is an autosomal dominant craniotubular dysplasia characterized by hyperostosis and sclerosis of the diaphyses of the long bones and the skull. Mutations in transforming growth factor beta-1 (TGFB1) were recently found in patients with PDD. We report on a four-generation pedigree with seven individuals affected by PDD, linkage and mutational analysis results, and review the literature. This pedigree demonstrates the autosomal dominant inheritance pattern, remarkable variation in expressivity, and reduced penetrance. The most severely affected individual had progression of mild skull hyperostosis to severe skull thickening and cranial nerve compression over 30 years. His carrier father remained asymptomatic into his ninth decade and had no radiographic hyperostosis or sclerosis of the bones. Symptomatic relatives presented with lower limb pain and weakness. They were initially diagnosed with a variety of other conditions. Two of the symptomatic individuals were treated successfully with prednisone. We genotyped 7 markers from chromosome region 19q13.1-13.3 in 15 relatives and confirmed linkage to this region in this family. We screened the TGFB1 gene for mutations and identified a missense mutation resulting in an R218H substitution in the affected individuals, the asymptomatic obligate carrier, and another unaffected relative. We genotyped the family for seven known TGFB1 polymorphisms and a novel TAAA tetranucleotide repeat in intron 1. These polymorphisms did not appear to account for the variability in disease severity in this family. Our review illustrates how the disorder can significantly compromise health. Cranial involvement, which occurs in 61% of patients, can be severe, entrapping cranial nerves or causing increased intracranial pressure. Therapy with corticosteroids should be attempted in all symptomatic patients.

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“…Two patients were described as having small testes [Engelmann, 1929;Bingold, 1950]. Cryptorchidism was reported in one male in addition to our propositus.…”

Section: Discussion Clinical Findings In Pddmentioning

confidence: 65%

Section: Discussion Clinical Findings In Pddmentioning

confidence: 94%

Section: Discussion Clinical Findings In Pddmentioning

confidence: 99%

See 1 more Smart Citation

Marked phenotypic variability in progressive diaphyseal dysplasia (Camurati–Engelmann disease): Report of a four‐generation pedigree, identification of a mutation in TGFB1, and review

Wallace

Lachman

Mekikian

et al. 2004

American J of Med Genetics Pt A

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“…Delayed puberty was reported in eight males in addition to our propositus. Two patients were described as having small testes [Engelmann, 1929; Bingold, 1950]. Cryptorchidism was reported in one male [Singleton et al, 1956] in addition to our propositus.…”

Section: Discussionmentioning

confidence: 68%

Thermoreversible hydrogel scaffolds for articular cartilage engineering

Fisher¹,

Jo²,

Mikos³

et al. 2004

J Biomedical Materials Res

116

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Articular cartilage has limited potential for repair. Current clinical treatments for articular cartilage damage often result in fibrocartilage and are associated with joint pain and stiffness. To address these concerns, researchers have turned to the engineering of cartilage grafts. Tissue engineering, an emerging field for the functional restoration of articular cartilage and other tissues, is based on the utilization of morphogens, scaffolds, and responding progenitor/stem cells. Because articular cartilage is a water-laden tissue and contains within its matrix hydrophilic proteoglycans, an engineered cartilage graft may be based on synthetic hydrogels to mimic these properties. To this end, we have developed a polymer system based on the hydrophilic copolymer poly(propylene fumarate-co-ethylene glycol) [P(PF-co-EG)]. Solutions of this polymer are liquid below 25°C and gel above 35°C, allowing an aqueous solution containing cells at room temperature to form a hydrogel with encapsulated cells at physiological body temperature. The objective of this work was to determine the effects of the hydrogel components on the phenotype of encapsulated chondrocytes. Bovine articular chondrocytes were used as an experimental model. Results demonstrated that the components required for hydrogel fabrication did not significantly reduce the proteoglycan synthesis of chondrocytes, a phenotypic marker of chondrocyte function. In addition, chondrocyte viability, proteoglycan synthesis, and type II collagen synthesis within P(PF-co-EG) hydrogels were investigated. The addition of bone morphogenetic protein-7 increased chondrocyte proliferation with the P(PF-co-EG) hydrogels, but did not increase proteoglycan synthesis by the chondrocytes. These results indicate that the temperatureresponsive P(PF-co-EG) hydrogels are suitable for chondrocyte delivery for articular cartilage repair.

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“…Bone biopsies all appear to show essentially the same changes, which include an altered cortex with progressive active bone resorption as well as deposition. The changes are generally considered to be nonspecific and result from resorption with subsequent remodelling of the bone (Riley and Schwachman, 1943;Ribbing, 1949;Bingold, 1950;Gulledge and White, 1951;Paul, 1953;Chipps et al, 1954;Griffiths, 1956;Singleton et al, 1956;Mikity and Jacobson, 1958;Rubin, 1964;Trunk et al, 1969). However, Allen et al (1970) were particularly impressed by the apparent absence of osteoclasts with definite evidence of decreased bone resorption; in one patient a good clinical response to steroid treatment was associated with increased bone resorption and histological evidence of osteon formation with secondary remodelling.…”

Section: Discussionmentioning

confidence: 99%

Camurati-Engelmann disease. Genetics and clinical manifestations with a review of the literature.

Rs¹,

Graham²

1972

Journal of Medical Genetics

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Engelmann's disease Osteopathia hyperostotica (sclerotisans) multiplex infantilis; progressive diaphysial dysplasia

Cited by 14 publications

References 9 publications

Marked phenotypic variability in progressive diaphyseal dysplasia (Camurati–Engelmann disease): Report of a four‐generation pedigree, identification of a mutation in TGFB1, and review

Marked phenotypic variability in progressive diaphyseal dysplasia (Camurati–Engelmann disease): Report of a four‐generation pedigree, identification of a mutation in TGFB1, and review

Thermoreversible hydrogel scaffolds for articular cartilage engineering

Camurati-Engelmann disease. Genetics and clinical manifestations with a review of the literature.

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