Download Dupuytren`s Disease Edits

Date: 02-Apr-2014 09:47
Version: 15
Author: Joseph Bernstein
Musculoskeletal
Medicine for Medical
Students
Dupuytren Disease
Table of Contents
1 Description 3
2 Structure and function 4
3 Clinical manifestations 6
4 Diagnosis 7
5 Epidemiology 8
6 Differential diagnosis 9
7 Treatment options and outcomes 10
8 Risk factors and prevention 12
9 Miscellany 13
10 Key terms 14
11 Skills and competencies 15Dupuytren Disease
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1 Description
Dupuytren Disease is a progressive disorder characterized by fibrosis of the palmar fascia (also
known as the palmar aponeurosis) and
is associated with the formation of palpable nodules and cords in the palm and fingers. In its
later stages it causes fixed digital flexion contractures. Although the disease process spares the
tendons deep to the fascia, because the contractures place the finger in flexion (as shown in the
figure) the tendons cannot function normally. Dupuytren Disease typically involves the 4th finger
but may include others (5th next-most likely; thumb least likely). The disease interferes with
grasp primarily; it is not a painful condition.Dupuytren Disease
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2 Structure and function
Dupuytren’s disease is due to abnormal thickening and contracture of the palmar fascia (also
known as the palmar aponeurosis).
The palmar fascia complex is a fibrous structure that lies below the dermis and above the flexor
tendons and muscles of the hand. It anchors the palmar skin and protects deeper neurovascular
structures. It extends from the wrist across the palm (where it is continuous with the transverse
carpal ligament); the tendon of the palmaris longus, if present, attaches to it. Distally, it courses
into the fingers to become the digital fascia. The fibers of the fascia are architecturally complex,
with transverse, longitudinal, or vertical orientations.
source: WIKIPEDIADupuytren Disease
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In Dupuytren disease, these fibers contract to form nodules and then cords. The fascia
becomes focally adherent to the overlying skin, causing pitting, and the cords contract, causing
fixed flexion deformities of the digits.
The abnormal proliferation of myofibroblasts (specialized fibroblast-like cells that are vital for
wound healing) is critical to the pathogenesis of Dupuytren disease.
Myofibroblasts, unlike regular fibroblasts, are capable of contracting, and they are responsible
for the fascial contraction that is seen in Dupuytren Disease. The fascia in Dupuytren is
characterized by increased numbers of myofibroblasts and inflammatory cells and disorderly
collagen deposition. There is increased expression of growth factors within the fascia and an
increase in the ratio of type III to type I collagen.
The underlying cause of Dupuytren remains obscure, but ischemic, autoimmune, and
inflammatory mechanisms have all been suggested.
The cause of Dupuytren disease remains elusive. It is likely multifactorial. Certain environmental
factors are thought to play a role, including smoking, alcohol use, and diabetes. However, these
do not account for all cases of Dupuytren’s. In fact, patients with diabetes tend to have milder
disease. Some authors have also proposed that the use of anti-epileptic medication may be
causative, but this is controversial. Another controversial suggestion is that in some cases the
use of vibrating machinery may lead to Dupuytren’s. Rheumatoid arthritis, on the other hand, seems
to be
protective, perhaps because of the use of anti-inflammatory medications.
In addition to environmental factors, there seems to be a genetic basis to at least some cases of
Dupuytren’s. This is supported by the large number of patients with a family history of the
disorder and by the high prevalence of Dupuytren’s in patients of Northern European descent.
An autosomal dominant mode of inheritance with incomplete penetrance has been postulated,
but a single gene responsible for the disease has yet to be identified.
Patient presentationDupuytren Disease
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3 Clinical Manifestations
The initial manifestations of Dupuytren Disease includes thickening of the skin of the hand, and
loss of normal skin mobility.
The skin changes are followed by the development of palpable nodules and cords in the palm and
fingers. The nodules may or may not be painful and are usually located near the distal
palmar crease, near the base of the finger, or adjacent to the PIP joint.
As the disease progresses, often over a period of several years, flexion contractures of the MCP
and PIP joints can develop, most commonly affecting the ring and small fingers.
The “tabletop test” can determine if the patient has a flexion contracture. As shown, the patient
here is attempting to lay the hand palm-side down, flat on a surface. This test is more sensitive
than specific; that is, patients who can lay their hands down do not have a contracture,
whereas an inability to do so may have other causes
In most cases, both hands are involved, although one is often more advanced than the other.
Patients may also experience ectopic manifestations, such as fibrosis on the dorsum of the PIP
joints (Garrod’s knuckle pads), plantar fibromatosis (Ledderhose disease), penile fibromatosis
(Peyronie’s disease), and frozen shoulder. Dupuytren Disease
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4 Diagnosis
In general, Dupuytren’s disease is a clinical diagnosis. Hand x-rays will demonstrate flexion
contractures and can be used to rule out other causes of deformity. Nodules and cords will not
be seen, as they are radiolucent. While hand x-rays should be obtained at the time of initial
evaluation, there is no role for routinely obtaining any other imaging or laboratory
studies.Dupuytren Disease
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5 Epidemiology
Typical patients are of Northern European descent, with fair skin and blonde hair. Dark skinned
people are not usually affected. It has been suggested that the disease is of Viking origin,
although this has not been substantiated. Onset is usually in middle to late life. Dupuytren’s
disease is much more common in men than women; and when it is found in women, the onset is
later and the disease is less severe.
The prevalence of Dupuytren’s Disease varies dramatically by region. It is highest in northern
Scotland, Ireland, Norway, and Australia, where as many as 40% of elderly men may be
affected. In the United States the prevalence is less than 5%.
Regardless, the implications of the disease can be severe, and patients with advanced disease
have difficulty with everyday activities like washing their hands or putting their hands in their
pockets.Dupuytren Disease
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6 Differential diagnosis
While Dupuytren disease causes flexion contractures of the digits, a number of other disorders
can present in a similar fashion, including stenosing tenosynovitis (or “trigger finger”), ulnar
nerve palsy, and camptodactyly.
The thickened skin, nodules, and cords may be confused with scars, calluses, tophi, ganglion
cysts, prolapsed flexor tendons (as can be seen in rheumatoid arthritis), or soft tissue tumors
such as giant cell tumors or even (rarely) epithelioid sarcomas.
Plantar fibromatosis (Ledderhose disease) and penile fibromatosis (Peyronie’s disease) are
sometimes seen in conjunction with Dupuytren disease, making thorough history-taking
important.
Red flags for Dupuytren’s
Although the signs of early Dupuytren’s can be subtle, pitting of the palmar skin can be one of
the first findings and is a relatively specific marker of the disease.
Males with early onset, a family history of Dupuytren’s, ectopic involvement, and bilateral
disease have the worst prognosis.
Aggressive intervention should be considered when there is a MCP joint contracture of thirty
degrees or
more or for any degree of PIP joint contracture.Dupuytren Disease
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7 Treatment options and
outcomes
Patients with limited functional impairment and no evidence of disease progression can be
educated regarding the diagnosis and observed over time. When the disease progresses and
symptoms become more severe, however, intervention is warranted.
There is no cure for Dupuytren’s disease, but many options for mitigating its effects exist.
Radiotherapy is used in the early stages of disease and is best able to prevent progression.
Indications for more aggressive treatment include metacarpophalangeal flexion contractures of
more than thirty degrees or any proximal interphalangeal flexion contracture. Once this degree
of contracture is present, treatment involves removing or breaking apart the cords that pull the
fingers into flexion.
One method for removing or breaking apart the cords that pull the fingers into flexion is to cut
them with a scalpel or percutaneously with a needle. This latter technique is called “needle
aponeurotomy” or “needling”. The scalpel or needle disrupts or “breaks” the cord of tissue that is
contracting the finger. The advantages of this technique are that there is a small or no incision, it
can be performed on multiple fingers at the same setting, and usually requires little therapy after
the procedure. The primary risk is accidental injury to nerves or tendons.
PHOTO how to inject Dupuytren’s disease
Another treatment option for breaking apart the cords is the injection of collagenase clostridium
histolyticum, an enzyme that weakens the Dupuytren’s cord. This injection is performed in the
office and then the day following the injection, the physician will manipulate the contracted finger
in an attempt to break the cord and straighten the finger. Currently, the collagenase injection
can be used only on one joint in one finger at a time and additional injections must be spaced at
least one month apart. Otherwise, the risks and benefits are similar to those for needling.
Limited fasciectomy, in which the involved fascia is excised, may be performed, and is often
considered for more advanced cases. The principle advantage to fasciectomy is a more
complete and reliable joint release than that with the needle or enzyme techniques.
Disadvantages include the need for hand therapy postoperatively and longer recovery time.
For the most severe and for recurrent cases, the overlying skin must be excised as well and the
area skin grafted (a so-called dermo-fasciectomy). Patients are often especially stiff after
dermo-fasciectomy. To assist in regaining range of motion, patients are prescribed hand therapy
and often thermoplast splints. For more severe stiffness, temporary placement of skeletal
traction devices, surgical release of joint contractures, or even joint fusions can be
utilized.Dupuytren Disease
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About 10% of patients regress without treatment. However, patients with progressive or
debilitating disease require intervention, and, following surgery, recurrence rates are high, ranging
from 2% to 60% (average 33%) . Recurrence may be due to local recurrence of disease or
extension of disease to areas outside the surgical site. Small finger involvement and
involvement of more than one digit are both associated with higher recurrence rates.
Potential complications of surgery include skin necrosis, infection, nerve or vascular injury,
reflex sympathetic dystrophy, loss of the involved digit, and stiffness.
The outcomes of collagenase injections have been less well studied. They seem to be effective
in the short term and appear relatively safe, although some cases of iatrogenic tendon ruptures
have been observed and long-term follow-up is not yet available .
“Dupuytren’s diathesis” is used to describe a constellation of factors associated with a poor
prognosis: Young age, male sex, a family history of the disease, bilateral disease, and the
presence of ectopic manifestations. Interestingly, diabetics tend to have a more favorable
prognosis.Dupuytren Disease
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8 Risk factors and prevention
Risk factors include a family history, male sex, smoking, alcohol intake, and diabetes. Epilepsy,
anticonvulsant use, hand trauma, and the use of vibrating machinery may also put patients at
higher risk, although this is controversial.Dupuytren Disease
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9 Miscellany
Among bagpipe players, Dupuytren’s Disease is known as the “Curse of the MacCrimmons”,
after a family of preeminent bagpipe players in 16 century Scotland. When affected by the
Curse, a player’s small finger becomes bent, making bagpipe playing impossible.
Famous sufferers of Dupuytren’s disease include Ronald Reagan, Bob Dole, and Samuel
Beckett.
The increased numbers of myofibroblasts, disorderly collagen deposition and increased
expression of growth factors seen in Dupuytren disease are found in penile fibromatosis,
suggesting a common underlying condition.
According to Stigler’s (tongue in cheek) Law of Eponymy, "No scientific discovery is named after
its original discoverer" (a phenomenon first described by Merton, Stigler points out). Dupuytren’s
Disease is no exception: Baron Guillaume Dupuytren's 1831 lecture associated his name with a
condition Henry Cline characterized in 1808.Dupuytren Disease
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10 Key terms
Dupuytren’s disease, palmar fascia, Dupuytren’s diathesisDupuytren Disease
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11 Skills and competencies
Recognize the presenting features of Dupuytren’s disease; Understand the underlying
pathophysiology; Identify risk factors for the development of Dupuytren’s disease; Describe the
various treatment options and prognosis.