Wnt Signaling and Dupuytren's Disease

Balaji, Kithiganahalli Narayanaswamy; Kaveri, Srini V.; Bayry, Jagadeesh

doi:10.1056/nejmoa1101029

Cited by 207 publications

(210 citation statements)

References 32 publications

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“…1 Most patients diagnosed with DD are over age 60, and men are affected 3 to 5 times more often than women. [1][2][3] Currently, there is no cure for DD, and treatment options include open excision of the diseased fascia, percutaneous needle fasciotomy, and injections with steroids or collagenase. 1,3 However, these treatment options are associated with risk of neurovascular injury and have recurrence rates between 8%-66%, depending on the treatment and severity of disease.…”

Section: Dupuyt Ren Disease (Dd) Is a Progressive And Irreversiblementioning

confidence: 99%

“…[1][2][3] Currently, there is no cure for DD, and treatment options include open excision of the diseased fascia, percutaneous needle fasciotomy, and injections with steroids or collagenase. 1,3 However, these treatment options are associated with risk of neurovascular injury and have recurrence rates between 8%-66%, depending on the treatment and severity of disease. 3 The potential for recurrence underscores the inability of current treatments to target the underlying pathology as the etiology of disease is not completely understood.…”

Section: Dupuyt Ren Disease (Dd) Is a Progressive And Irreversiblementioning

confidence: 99%

“…1,3 However, these treatment options are associated with risk of neurovascular injury and have recurrence rates between 8%-66%, depending on the treatment and severity of disease. 3 The potential for recurrence underscores the inability of current treatments to target the underlying pathology as the etiology of disease is not completely understood.…”

Section: Dupuyt Ren Disease (Dd) Is a Progressive And Irreversiblementioning

confidence: 99%

“…[1][2][3] These factors are thought to play a role in the cellular trauma and ischemia that result in tissue inflammation and fibrosis seen in DD. The process by which cellular transformation occurs, and to what degree, remains unknown.…”

Section: Dupuyt Ren Disease (Dd) Is a Progressive And Irreversiblementioning

confidence: 99%

“…4 The genetic mode of DD inheritance appears to be heterogeneous, and mostly autosomal dominant with variable penetrance. 2,3,6 Numerous genetic studies have been performed in order to more clearly understand the genetic basis of disease. These studies have shown an association of DD with regions of chromosomes 6, 11, and 16, alterations in copy number and structure of chromosomes, and a possible linkage with the DUPC1 locus at 16q.…”

Section: Dupuyt Ren Disease (Dd) Is a Progressive And Irreversiblementioning

confidence: 99%

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Evaluation of a Mitochondrial DNA Mutation in Maternally Inherited and Sporadic Cases of Dupuytren Disease

Anderson

Burmester

Caldwell

2012

Clinical Medicine & Research

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Objective:The purpose was to test the hypothesis that Dupuytren disease (DD) is associated with a previously reported mutation in mitochondrial DNA at position 2839. Methods:Two hundred sixty-nine cases of DD and an equal number of matched controls were identified in Marshfield Clinic's Personalized Medicine Research Project (PMRP). Clinical data used to describe the cohort were abstracted from the electronic medical records of the population. Genetic analysis of all the cases and controls was done using a custom synthesis TaqMan assay, while genetic analysis of sixteen of the above cases with a familial history of DD was performed by mitochondrial DNA sequencing at position C2839A.Results: Cases and controls were evenly distributed with 167 (62%) men and 102 (38%) women. The majority, 264 (98%) of the cases and controls were white non-Hispanic. Of the 269 cases, 16 were found to have a familial history of DD. Two cases had a maternal history, eight a paternal history, five an affected sibling, and one a paternal grandfather. All cases and controls were found to have only the C allele at the site of the reported mitochondrial C2839A polymorphism. Conclusions:The previously reported mitochondrial mutation was not present in our small, maternally inherited cohort or in the total population of 538 cases and controls. This finding does not support the reported incidence of this polymorphism in 90% of the affected population with a maternal inheritance, and calls into question the role of the C2839A mitochondrial DNA polymorphism in familial or sporadic cases of DD. Dupuyt ren disease (DD) is a progressive and irreversible fibrosis of the palmar fascia of the hand. The fibrotic process begins with palmar nodules followed by rope-like cord formation that over time produces progressive contraction of the digits at the metacarpalphalangeal and proximal interphalangeal joints. The ring finger is most frequently affected, followed by the small, thumb, long, and index fingers. The symptoms are usually unilateral but may progress to bilateral disease. 1,2 In some patients, the subsequent flexion deformities of the hand severely limit the ability to perform normal activities and negatively impact quality of life.In Caucasians, DD is considered one of the most common hereditary connective tissue disorders, predominantly affecting individuals of Northern European descent. Approximately 40% of DD patients have an affected relative based on several familial aggregation studies.2 Prevalence of DD in the United States ranges from 0.5% to 11%, with the annual number of new cases of physician-diagnosed DD in the year 2007 estimated at 3 per 10,000.1 Most patients diagnosed with DD are over age 60, and men are affected 3 to 5 times more often than women.

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Section: Dupuyt Ren Disease (Dd) Is a Progressive And Irreversiblementioning

confidence: 99%

Section: Dupuyt Ren Disease (Dd) Is a Progressive And Irreversiblementioning

confidence: 99%

Section: Dupuyt Ren Disease (Dd) Is a Progressive And Irreversiblementioning

confidence: 99%

Section: Dupuyt Ren Disease (Dd) Is a Progressive And Irreversiblementioning

confidence: 99%

Section: Dupuyt Ren Disease (Dd) Is a Progressive And Irreversiblementioning

confidence: 99%

See 3 more Smart Citations

Evaluation of a Mitochondrial DNA Mutation in Maternally Inherited and Sporadic Cases of Dupuytren Disease

Anderson

Burmester

Caldwell

2012

Clinical Medicine & Research

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Dupuytren disease

Werker

2015

Plastic and Reconstructive Surgery

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Arthropathy, osteolysis, keloids, relapsing conjunctival pannus and gingival overgrowth: A variant of polyfibromatosis?

Cinotti

Ferrero

Paparo

et al. 2013

American J of Med Genetics Pt A

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Polyfibromatosis is a rare fibrosing condition characterized by fibromatosis in different body areas and by keloid formation, and which can be associated with arthropathy and osteolysis. Familial occurrence has been described, but the cause remains unknown. Here, we describe a patient with characteristics of polyfibromatosis with arthropathy who had in addition severe conjunctival fibrosis, distinctive face, gingival overgrowth, and pigmented keloids. We discuss the resemblances and differences with polyfibromatosis and descriptions of other, similar patients. We conclude that at present it remains uncertain whether the patient has a variant of polyfibromatosis or a separate entity.

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Wnt Signaling and Dupuytren's Disease

Cited by 207 publications

References 32 publications

Evaluation of a Mitochondrial DNA Mutation in Maternally Inherited and Sporadic Cases of Dupuytren Disease

Evaluation of a Mitochondrial DNA Mutation in Maternally Inherited and Sporadic Cases of Dupuytren Disease

Dupuytren disease

Arthropathy, osteolysis, keloids, relapsing conjunctival pannus and gingival overgrowth: A variant of polyfibromatosis?

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