By. Adrian E. Flatt, MD

(From the George Truett James Orthopaedics Institute, Baylor University Medical

Center, Dallas, Texas.) Corresponding author: Adrian E. Flatt, MD, George Truett James Orthopaedics Institute, Baylor University Medical Center, 3500 Gaston Avenue, Dallas, Texas

(BUMC PROCEEDINGS 2001;14:378û384)

Dupuytren’s disease (DD) is an ancient affliction of unknown origin. It is defined by Dorland as shortening, thickening, and fibrosis of the palmar fascia producing a flexion deformity of a finger. Tradition has it that the disease originated with the Vikings, who spread it throughout Northern Europe and beyond as they traveled and intermarried. After being present for hundreds of years, DD was named in the 19th century after a famous French surgeon, who was not the first to describe it. This article reviews the history of DD and describes its incidence, clinical manifestations, and treatment.

THE VIKINGS

In the year 865, a great heathen army of Vikings landed on England’s east coast; an earlier raid on the monastery of Lindisfarne prompted a cleric of the times to say, "Never before has such terror appeared in Britain as we have now suffered from a pagan race." By the 10th century, three of England’s four kingdoms were dominated by the Vikings, who gradually converted to Christianity and settled in the conquered territories. The Viking age of exploration, trading, and colonization lasted nearly 300 years. They raided as far as Newfoundland to the west, the Mediterranean and its many ports to the south, and the Caspian Sea by way of the rivers of Eastern Europe, such as the Volga and Dneiperùto the east. The areas bordering the North Sea were significantly colonized, with Scotland, Ireland, England, France, Holland, and Belgium being principally involved. Vikings were present in Scotland for nearly 500 years. They left behind many Scandinavian family and place names that replaced the original Gaelic.

They also left behind DD, which has persisted in some areas to this day; in Scotland, for example, since the 15th century the flexed fingers of adult male bagpipers have been known as the curse of the MacCrimmons. In England, the Vikings who settled in the area of East Anglia became farmers, and to this day surnames derived from Scandinavian roots are common. My family name, Flatt, referred to those who settled on the flat lands of East Anglia. Like the Vikings, Flatt children were born with ash-blond hair, and many were blue eyed. This held true until ships of the Spanish Armada wrecked off the English coast in 1598. Survivors swam ashore and joined the local farmers; as a result, subsequent Flatt children were blond at birth but had jet-black hair by their teenaged years as did I. The Flatts must have had strong genes, since neither my father nor I have had DD despite our Viking roots.

INCIDENCE OF DD BY ANCESTRY

In his 1963 book, the Australian hand surgeon John Hueston wrote, "Dupuytren’s contracture is virtually confined to people of European descent." Its highest incidence is recorded in Iceland. As expected, the incidence is also high in Scandinavia: In a Norwegian study of 15,950 citizens, DD was present in 10.5% of men and in 3.2% of women. In a large 1962 review of published figures, P. F. Early arrayed the countries of European stock in order of incidence of DD: Denmark, Australia, New Zealand, Canada, United Kingdom, Germany, and the United States. He also commented that the incidence in Australia, Canada, England, and Wales was similar since their populations are of basically English stock, which may itself represent a diluted strain of Danish (Viking) stock. The incidence in Sweden is matched in Edinburg. Two different studies by James and Ling in Scotland showed such a high family incidence that DD was described as inherited through a single autosomal-dominant gene of variable penetrance. In a study in the French port of Toulon, 60% of the general population had brown eyes and 40% had blue eyes, but 80% of

inhabitants with DD had blue eyes. The latter individuals were traced to the families of Breton and Norman sailors in the city’s history.

DD is relatively uncommon in Spain, Greece, and Italy, except for Greece and Italy’s northern Adriatic Coast, which was penetrated by a northern genetic invasion during the Austro- Hungarian Empire.

In 1985, Robert McFarlane of Canada published a preliminary report of the activities of the committee on DD of the International Federation of Societies for Surgery of the Hand. In

812 patients, the family origin was Northern European in 68%, Southern European in 3%, black African and American Indian in 0.2%, Chinese in 2%, and Japanese in 16%. Northern European

ancestry can hardly apply to Japan, where DD appears to be a different condition; 95% of cases occur in men and only 6% of cases occur in families with a history of DD compared with 26% in other countries. I understand that an update of this massive study will be published shortly.

More recently, Hueston has modified his earlier views. He now states that an autosomal- dominant trait explains a little of the etiology of DD, but that much work remains to explain the

clear-cut preference for races of Northern European origin. Quoting his own experience of often seeing 40 cases of DD each week in consultation in Melbourne, he comments: "DD may

now be claimed by enthusiasts to have penetrated all five major races of the world. But what is the significance of these reports of infinitesimal incidence in such enormously populous races?

Some interpret this wide occurrence as denying a European genetic origin. However, these reports of an exotic case or two in populations of hundreds of millions can scarcely be taken seriously .

EARLY HISTORY

Greek and Roman literature contain no record of anything resembling DD. The Icelandic sagas of the 12th and 13th centuries describe a number of "miracle cures" recently discussed by Whaley and Elliot. Four cases are considered in detail, two of which could well have been DD.

Whaley and Elliot found no evidence of DD in early Anglo-Saxon and Gaelic medical literature.

In addition, the more extensive medical literature of medieval Europe before 1614 shows no evidence of the condition.

On December 5, 1831, Baron Guillaume Dupuytren delivered a lecture on permanent retractions of the flexed fingers which was published under the title "Lecton sur la retraction permanente des doigts." To this day, the condition bears his name, despite the fact that history shows that Felix Platter in 1680, Henry Cline, Jr., of St. Thomas’ Hospital in 1808, and Sir Astley Cooper in 1818 had already described a similar condition, with Cline specifically noting the involvement of the palmar fascia. Cooper and Dupuytren knew each other and communicated on several occasions before Dupuytren’s famous lecture in December 1831.

THE BARON GUILLAUME DUPUYTREN

Born in 1777, Guillaume Dupuytren was generally acknowledged as the greatest French surgeon of the 19th century; the English journal, The Lancet, named him in his lifetime "the most erudite and accomplished surgeon in Europe." An ambitious man, he came from relatively humble origins and in his later years was created baron by Louis XVIII. He would now be called a draft

dodger since his colleagues on the faculty of medicine in Paris arranged his deferment from the draft for Napoleon’s armies. In a fiercely competitive system, he rose in 20 years from a prosector of anatomy to chief surgeon of the Hotel de Dieu in Paris.

Oliver Wendell Holmes described Dupuytren as "a square solid man with a high domed head, oracular in his utterance, indifferent to those around him, sometimes, it is said, very rough with them." Critical of all those about him, he had few friends among his medical colleagues. Considerable adverse comments are recorded by his contemporaries: he was called "the greatest

of surgeons, the meanest of men"; it was noted, "With absolute faith in his own abilities he made work his religion"; and his colleague stated, "If I could have avoided speaking of M. Dupuytren, it would have been a great relief to me, for I find myself in a very great embarrassment. I am almost sure to have all parties dissatisfied".

Dupuytren’s name has been applied as an eponym to at least 12 diseases, fractures, operations, and instruments. He hated to write, and all his "literature" was recorded and published by his

students in the local medical journals as "Lectons orales de clinique chirurgicale de Dupuytren." For his time, he had a scientific and inquiring mind and was a caring physician who visited his patients every day. On ward rounds, he dressed distinctively in a green coat, white vest, blue trousers, and a small green cloth cap, which he had designed himself. The picture of this domineering, all-confident surgeon was marred by his almost constant "nervous habit of gnawing the nails of his left thumb and index finger" (13). His assistants were in awe of him. He has

been described as "ôplying his whip unceasingly on the backs of his jaded horses,": a description that could apply to some clinical rounds in this 21st century. Dupuytren developed pleurisy at

the age of 68 and died while his colleagues debated whether to drain the empyema, no doubt influenced by Dupuytren’s opinion that "it is better to die of the disease than of the operation."

CLINICAL CONDITION

DD usually presents with a palmar nodule on the line of the ring or small finger. One hand, not necessarily the dominant, is affected first and later the other may show the characteristic nodule and finger contracture. The metacarpophalangeal joint is usually involved first and later the proximal interphalangeal joint.

DD is usually painless at onset and insidious in its progress. However, I am constantly amazed at how patients will tolerate significant degrees of contracture and appear for advice only when they start to poke themselves in the eye when washing their face. Erik Moberg of Sweden contends that men are frequently sent for treatment by their wives, who are bothered by the clawlike manipulation with the hand.

A multitude of causes have been suggested for DD, but only heredity has general acceptance. Despite positive family histories, however, about 30% of cases are sporadic. DD is relatively rare, occurring in 1% to 2% of the population. The disease is more common in men; the incidence in women is approximately 15% of those requiring surgical care but becomes higher in those who require nonsurgical treatment. There is a progressive rise in incidence with age. DD usually occurs in the fifth, sixth, and seventh decades; the peak age in men is 40 to 59, and in women, 40 to 69. The expression of the disease gene is almost complete in men over the age of 75 but is of much lower penetrance in women, unless it arises from both parents. In those with family histories of DD, the onset occurs earlier and leads to more marked contractures. An early nodular involvement on the line of the ring finger.

DUPUYTREN’S DIATHESIS

In a group of patients, DD presents more aggressively. Hueston has named this more aggressive form Dupuytren’s diathesis. (Diathesis is the variable penetration of an autosomaldominant gene.) In these patients, there is an early onset of disease, a positive family history, bilaterality, and involvement of areas other than the hand. When data from 736 international patients were reviewed, researchers found that when all factors contributing to the diathesis were present, the rate of recurrence or extension was 78%, whereas when all factors were absent, the rate was only 17%.

Dupuytren’s diathesis is present in every member of a family but may show varying degrees in different members. However, each family member is ôborn to get it.ö This constitutional tendency for the onset of DD in the hands is closely related to tissue depositions elsewhere.

The "strength" of the diathesis varies. When low, there are no clinical signs of DD. When high, early recurrence may require radical secondary surgery. Clinical grading of this diathesis is an

inexact science and requires great experience in diagnosis and treatment selection on the part of the surgeon.

Hueston records seeing a case of proven Dupuytren’s contracture in a 12-year-old boy. A similar-aged boy was sent to me for leg amputation because of a mass on the sole of his foot. Based on a biopsy, sarcoma had been diagnosed. (Pathologists who are not told of a physical examination or a family history often are forced to suggest fibrosarcoma because of the cellular activity seen in the slide.) The boyÆs hands showed no real involvement, but his father and grandfather both showed marked bilateral involvement. I did not amputate his leg, and the boy was alive and well a number of years later.

In 1981, Brickley-Parsons et al showed that the fundamental cause of the finger contractures in DD is an active cellular process that progressively draws the distal extremities of the affected

tissue closer together at the same time that the original tissue is being replaced. The result of these two processes is simply a shorter, smaller piece of tissue fabric containing collagen molecules, fibrils, and fibers of normal length and organization. The development of DD is always along anatomically identifiable connective tissue structures. This logical explanation of the mechanism, but not the cause, of the contractures gave further stimulus to the search for nonsurgical methods of contracture release.

ASSOCIATED CONDITIONS

A great variety of conditions have been associated with DD. Some are tenuous relationships; others are more marked. The rate of extension and/or recurrence in Dupuytren’s diathesis. When all factors are present, the extension or recurrence rate is 78%, but when all factors are absent, the rate is only 17%. Reprinted with permission from McFarlane RM. Some observations on the epidemiology of Dupuytren’s disease. In Hueston JT, Tubiana R, eds. Dupuytren’s Disease. London: Churchill Livingstone, 1985:123.

It is generally conceded that individuals with diabetes, epilepsy, chronic alcoholism, and pulmonary tuberculosis have an increased incidence and earlier onset of DD. However, Fisk has

pointed out that no variety of disease, injury, activity, or occupation could induce DD in someone who was not genetically so determined.

Among other medical conditions that have been said to be associated with DD are arthritis, diabetes mellitus, myocardial disease, reflex sympathetic dystrophy, hepatic disease, alcoholism,

barbiturate ingestion, peptic ulcers, fibromatosis, compulsive personality, carpal tunnel syndrome, trigger fingers, HIV, and smoking. DD is essentially a condition of middle and later

ages, and its association with many common and chronic diseases is probably more coincidental than causative.

Fibromatosis In DD, fibromatosis can occur in areas other than the palm and fingers. The most common site is as knuckle pads, followed by the sole of the foot. Peyronie’s disease (penile deposits) is not common but is, in fact, associated with DD. Histological and biochemical studies show these tissues to be identical to those in the palm and digits. Knuckle pads When looking at the dorsum of one’s proximal interphalangeal finger joints, the skin is seen to be wrinkled in full joint extension. The pattern of wrinkles varies in each individual but will disappear on full flexion of the joint. Normally the skin over the joint is not tethered. In some patients, the skin over the joints thickens into nodules, which often are tethered to deeper structures. These nodules are usually free of pain and rarely noticed by the patient. Occasional burning pain has been reported, and they are tender when knocked. These nodules are said to be present in >80% of patients with DD; observation over time shows that they may develop, regress, or show little change. Knuckle changes can be present even before the palmar disease causes finger contractures. They are considered a warning sign that the patient may be prone to developing the typical palmar signs. McIndoe was so certain of this predisposition that he stated, "The clinician who observes a patient to have knuckle pads may be quite sure that the patient either has a Dupuytren’s contracture or that one will develop in the future. This is particularly likely in patients subject to Dupuytren’s diathesis.

Dupuytren’s involvement of the sole of the foot. The involvement arises within the plantar fascia. It need only be removed if discomfort hinders walking.

Plantar nodules : Involvement of the sole of the foot frequently presents on the medial border of the sole near the highest point of the arch. The lump is painless; it is fixed within the plantar aponeurosis while the overlying skin is freely movable. Contracture of the toes does not occur. Hueston reported that in 224 patients, 20% had plantar nodules, but when the nodule was associated with recurrence or extension of the disease, the incidence rose to 75%. The biopsy is predominantly cellular and frequently misdiagnosed as fibrosarcoma. These plantar nodules occur most commonly in patients with epilepsy.

Epilepsy : In Sweden, Skoog examined the hands of 207 patients with epilepsy and found that 42% had palmar involvement, 26% had knuckle pads, and 8% had plantar involvement (18). He suggested that the use of barbiturates was associated with the occurrence of DD. But Thieme compared 351 patients with epilepsy who had DD with 408 controls and found that in those with a history of barbiturate intake the number of patients with or without DD was identical. Even in patients who had taken barbiturates for >5 years, there was no significant difference between the 2 groups.

Diabetes : The association between diabetes and DD is well known, but the DD contractures are usually mild and curiously affect the long and ring fingers most frequently; the small finger is rarely affected. Some physicians believe that early contractures should be considered a warning sign of diabetes development. The association is almost always with nonûinsulin-dependent diabetes, but cases associated with insulin-dependent diabetes have been reported. Some suggest that the pattern of inheritance predisposes patients to both DD and diabetes mellitus. The true incidence of DD in proven diabetes probably approaches 40%, but it has been variously quoted as varying between 1.6% and 32%.

HIV: In the United Kingdom, the prevalence of DD is about 5.5%, but in 50 patients with HIV, it was found to be 36%. According to one theory, DD may be caused by oxidation by free radicals, and it is known that an increase in the production of free radicals occurs in HIV.