Dupuytren contracture

What it is, symptoms and effects

From: MedlinePlus Genetics, National Library of Medicine

Dupuytren contracture is characterized by a deformity of the hand in which the joints of one or more fingers cannot be fully straightened (extended); their mobility is limited to a range of bent (flexed) positions. The condition is a disorder of connective tissue, which supports the body's muscles, joints, organs, and skin and provides strength and flexibility to structures throughout the body. In particular, Dupuytren contracture results from shortening and thickening of connective tissues in the hand, including fat and bands of fibrous tissue called fascia; the skin is also involved.

In men, Dupuytren contracture most often occurs after age 50. In women, it tends to appear later and be less severe. However, Dupuytren contracture can occur at any time of life, including childhood. The disorder can make it more difficult or impossible for affected individuals to perform manual tasks such as preparing food, writing, or playing musical instruments.

Dupuytren contracture often first occurs in only one hand, affecting the right hand twice as often as the left. About 80 percent of affected individuals eventually develop features of the condition in both hands.

Dupuytren contracture typically first appears as one or more small hard nodules that can be seen and felt under the skin of the palm. In some affected individuals the nodules remain the only sign of the disorder, and occasionally even go away without treatment, but in most cases the condition gradually gets worse. Over months or years, tight bands of tissue called cords develop. These cords gradually draw the affected fingers downward so that they curl toward the palm. As the condition worsens, it becomes difficult or impossible to extend the affected fingers. The fourth (ring) finger is most often involved, followed by the fifth (little), third (middle), and second (index) fingers. Occasionally the thumb is involved. The condition is also known as Dupuytren disease, and "Dupuytren contracture" most accurately refers to later stages when finger mobility is affected; however, the term is also commonly used as a general name for the condition.

About one-quarter of people with Dupuytren contracture experience uncomfortable inflammation or sensations of tenderness, burning, or itching in the affected hand. They may also feel pressure or tension, especially when attempting to straighten affected joints.

People with Dupuytren contracture are at increased risk of developing other disorders in which similar connective tissue abnormalities affect other parts of the body. These include Garrod pads, which are nodules that develop on the knuckles; Ledderhose disease, also called plantar fibromatosis, which affects the feet; scar tissue in the shoulder that causes pain and stiffness (adhesive capsulitis or frozen shoulder); and, in males, Peyronie disease, which causes abnormal curvature of the penis.

Causes and biological mechanisms

From: MedlinePlus Genetics, National Library of Medicine

While the cause of Dupuytren contracture is unknown, changes in one or more genes are thought to affect the risk of developing this disorder. Some of the genes associated with the disorder are involved in a biological process called the Wnt signaling pathway. This pathway promotes the growth and division (proliferation) of cells and is involved in determining the specialized functions a cell will have (differentiation).

Abnormal proliferation and differentiation of connective tissue cells called fibroblasts are important in the development of Dupuytren contracture. The fascia of people with this disorder has an excess of myofibroblasts, which are a type of fibroblast containing protein strands called myofibrils. Myofibrils normally form the basic unit of muscle fibers, allowing them to contract. The increased number of myofibroblasts in this disorder cause abnormal contraction of the fascia and produce excess amounts of a connective tissue protein called type III collagen. The combination of abnormal contraction and excess type III collagen likely results in the changes in connective tissue that occurs in Dupuytren contracture. However, it is unknown how changes in genes that affect the Wnt signaling pathway are related to these abnormalities and how they contribute to the risk of developing this disorder.

Other risk factors for developing Dupuytren contracture may include smoking; extreme alcohol use; liver disease; diabetes; high cholesterol; thyroid problems; certain medications, such as those used to treat epilepsy (anticonvulsants); and previous injury to the hand.

Inheritance and family implications

From: MedlinePlus Genetics, National Library of Medicine

Dupuytren contracture is usually passed down through generations in families and is the most common inherited disorder of connective tissue. The inheritance pattern is often unclear. Some people who inherit gene changes associated with Dupuytren contracture never develop the condition.

In some cases, Dupuytren contracture is not inherited and occurs in people with no history of the condition in their family. These sporadic cases tend to begin later and be less severe than familial cases.

How common is it?

From: MedlinePlus Genetics, National Library of Medicine

Dupuytren contracture occurs in about 5 percent of people in the United States. The condition is 3 to 10 times more common in people of European descent than in those of non-European descent.

Which doctor should you see?

The suggested department for discussing Dupuytren contracture is Clinical Genetics, with a clinical geneticist as the relevant type of clinician. Paediatrician (children) or physician (adults), with clinical geneticist referral.

This is an editorial referral starting point. The appropriate clinic depends on the person’s age, symptoms, previous diagnosis and local services. The first clinician can decide whether another specialty or a team is needed; a department label does not confirm the diagnosis.

How to prepare for an assessment

Bring a short timeline of the main symptoms: when they first appeared, whether they are constant or episodic, what seems to change them, and how they affect daily activities. Include previous reports, discharge summaries, current medicines and supplements, allergies, and any relevant family history. A dated record is more useful than trying to match every feature in an online article.

Ask the clinician what is already established and what remains uncertain. If a test is suggested, ask what question it answers, what its limitations are and how the result would change the next step. The information here is not an instruction to arrange every possible test. In children, bring growth, developmental and school information if it is relevant to the concern.

• Does the exact genetic or chromosome finding explain the observed features?
• Would a genetic counsellor help the family understand the result?
• Which organ-specific assessments are appropriate for this particular diagnosis?

Treatment discussions and follow-up

Where the source describes treatments, these are an overview of possible care, not a prescription for an individual. Ask which option applies to the confirmed diagnosis, what benefit is expected, what adverse effects to watch for and how progress will be assessed. Availability, approvals and local practice can differ from the country described in the source.

Before leaving the appointment, clarify the next review date, who will communicate results, and whom to contact if the situation changes. Discuss difficulties with sleep, work, school, mobility, eating or emotional wellbeing when these are relevant. Practical support may require coordination between the treating clinician and other services.

The collected references do not establish a complete prevention or long-term outlook section for this entry. Missing information should not be interpreted as proof that prevention is impossible or that a particular outcome is inevitable. Ask what is known for the exact subtype, stage and personal circumstances, and which uncertainties remain.

When to seek emergency help

Severe breathing difficulty, collapse, new stroke-like symptoms, a seizure that is prolonged or repeated without recovery, uncontrolled major bleeding, or an immediate risk of self-harm require emergency help. In India, call 112 or reach the nearest emergency department. This is a general, non-exhaustive warning list; it is not a condition-specific triage tool.